Ciliary Dyskinesia, Primary, 1; Cild1

Description

Primary ciliary dyskinesia is a genetically heterogeneous autosomal recessive disorder resulting from loss of function of different parts of the primary ciliary apparatus, most often dynein arms. Kartagener (pronounced KART-agayner) syndrome is characterized by the combination of primary ciliary dyskinesia and situs inversus (OMIM ), and occurs in approximately half of patients with ciliary dyskinesia. Since normal nodal ciliary movement in the embryo is required for normal visceral asymmetry, absence of normal ciliary movement results in a lack of definitive patterning; thus, random chance alone appears to determine whether the viscera take up the normal or reversed left-right position during embryogenesis. This explains why approximately 50% of patients, even within the same family, have situs inversus (Afzelius, 1976; El Zein et al., 2003). Genetic Heterogeneity of Primary Ciliary DyskinesiaOther forms of primary ciliary dyskinesia include CILD2 (OMIM ), caused by mutation in the DNAAF3 gene (OMIM ) on chromosome 19q13; CILD3 (OMIM ), caused by mutation in the DNAH5 gene (OMIM ) on 5p15; CILD4 (OMIM ) on 15q13; CILD5 (OMIM ), caused by mutation in the HYDIN gene (OMIM ) on 16q22; CILD6 (OMIM ), caused by mutation in the TXNDC3 gene (OMIM ) on 7p14; CILD7 (OMIM ), caused by mutation in the DNAH11 gene (OMIM ) on 7p15; CILD8 (OMIM ) on 15q24-q25; CILD9 (OMIM ), caused by mutation in the DNAI2 gene (OMIM ) on 17q25; CILD10 (OMIM ), caused by mutation in the DNAAF2 gene (OMIM ) on 14q21; CILD11 (OMIM ), caused by mutation in the RSPH4A gene (OMIM ) on 6q22; CILD12 (OMIM ), caused by mutation in the RSPH9 gene (OMIM ) on 6p21; CILD13 (OMIM ), caused by mutation in the DNAAF1 gene (OMIM ) on 16q24; CILD14 (OMIM ), caused by mutation in the CCDC39 gene (OMIM ) gene on 3q26; CILD15 (OMIM ), caused by mutation in the CCDC40 gene (OMIM ) on 17q25; CILD16 (OMIM ), caused by mutation in the DNAL1 gene (OMIM ) on 14q24; CILD17 (OMIM ), caused by mutation in the CCDC103 gene (OMIM ) on 17q21; CILD18 (OMIM ), caused by mutation in the DNAAF5 gene (OMIM ) on 7p22; CILD19 (OMIM ), caused by mutation in the LRRC6 gene (OMIM ) on 8q24; CILD20 (OMIM ), caused by mutation in the CCDC114 gene (OMIM ) on 19q13; CILD21 (OMIM ), caused by mutation in the DRC1 gene (OMIM ) on 2p23; CILD22 (OMIM ), caused by mutation in the ZMYND10 gene (OMIM ) on 3p21; CILD23 (OMIM ), caused by mutation in the ARMC4 gene (OMIM ) on 10p; CILD24 (OMIM ), caused by mutation in the RSPH1 gene (OMIM ) on 21q22; CILD25 (OMIM ), caused by mutation in the DYX1C1 gene (OMIM ) on 15q21; CILD26 (OMIM ), caused by mutation in the C21ORF59 gene (OMIM ) on 21q22; CILD27 (OMIM ), caused by mutation in the CCDC65 gene (OMIM ) on 12q13; CILD28 (OMIM ), caused by mutation in the SPAG1 gene (OMIM ) on 8q22; CILD29 (OMIM ), caused by mutation in the CCNO gene (OMIM ) on 5q11; CILD30 (OMIM ), caused by mutation in the CCDC151 gene (OMIM ) on 19p13; CILD32 (OMIM ), caused by mutation in the RSPH3 gene (OMIM ) on 6q25; CILD33 (OMIM ), caused by mutation in the GAS8 gene (OMIM ) on 16q24; CILD34 (OMIM ), caused by mutation in the DNAJB13 gene (OMIM ) on 11q13; CILD35 (OMIM ), caused by mutation in the TTC25 gene (OMIM ) on 17q21; CILD36 (OMIM ), caused by mutation in the PIH1D3 gene (OMIM ) on Xq22, and CILD37 (OMIM ), caused by mutation in the DNAH1 gene (OMIM ) on 3p21.Ciliary abnormalities have also been reported in association with both X-linked and autosomal forms of retinitis pigmentosa. Mutations in the RPGR gene (OMIM ), which underlie X-linked retinitis pigmentosa (RP3 ), are in some instances (e.g., {312610.0016}) associated with recurrent respiratory infections indistinguishable from immotile cilia syndrome; see {300455}.Afzelius (1979) gave an extensive review of cilia and their disorders. There are also several possibly distinct CILDs described based on the electron microscopic appearance of abnormal cilia, including CILD with transposition of the microtubules (OMIM ), CILD with excessively long cilia (OMIM ), and CILD with defective radial spokes (OMIM ).

Genes related to Ciliary Dyskinesia, Primary, 1; Cild1

RPGR
DNAAF2
RSPH4A
RSPH9
DNAAF1
CCDC40
DNAL1
CCDC103
LRRC6
POLR2K
CCDC151
CCNO
ZMYND10
MCIDAS
CCDC114
DNAH1
RSPH3
DNAH8
HYDIN
CFAP298
DNAI2
CCDC65
DNAH5
DRC1
DNAI1
ARMC4
RSPH1
SPAG1
DNAAF3
TTC25
NME8
DNAAF5
CCDC39
PIH1D3
OFD1
STK36
DNAAF4
GAS8
DNAJB13
DNAH11

Clinical Features

Top most frequent phenotypes and symptoms related to Ciliary Dyskinesia, Primary, 1; Cild1

Pica
Milia
Ventriculomegaly
Hydrocephalus
Respiratory distress
Pneumonia
Recurrent respiratory infections
Recurrent infections
Rod-cone dystrophy
Headache

And another 32 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available Ciliary Dyskinesia, Primary, 1; Cild1 have a estimated birth prevalence of 5 per 100k worldwide.

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Ciliary Dyskinesia, Primary, 1; Cild1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis. By Baylor Miraca Genetics Laboratories in United States. GSN, NEFH, SOD1, TEAD1, PHB, PLA2G2A, AKAP10, PNKD, PAX2, CPOX, ABCB7, TAZ, TIMM8A, GK, PDHA1, HCCS, NYX, FRMD7, OTC, RP2 , (...) View the complete list with 617 more genes Panel GTR000508280 complete gene list GSN, NEFH, SOD1, TEAD1, PHB, PLA2G2A, AKAP10, PNKD, PAX2, CPOX, ABCB7, TAZ, TIMM8A, GK, PDHA1, HCCS, NYX, FRMD7, OTC, RP2, PRPF8, AGPS, PRPF31, PUS1, D2HGDH, CA4, PITPNM3, ALG3, STRA6, MYO7A, RNASEL, PPARGC1B, UCP3, UCP1, GJA3, PHOX2A, SQSTM1, GUCA1A, ETHE1, MPI, EYS, TYMP, ALG6, GAD1, SLC35A1, RIMS1, SCO2, LCA5, TAP1, CISD2, C1QTNF5, DMGDH, AMT, GLDC, GCSH, PINK1, HMGCS2, PCCA, PCCB, PARK7, GLUD1, B4GALT1, ALG12, SPG7, COQ2, UCP2, NDUFA13, GRN, ALG2, FSCN2, ALG8, UNG, AP3B1, MEF2A, CERKL, RGS9, ALG1, ATIC, ALG9, COG7, PDP1, DPM1, HADHB, FLVCR1, GFM1, MPDU1, PLOD2, IQCB1, SLC25A22, TK2, SECISBP2, TOPORS, ACADSB, CTSD, POLG2, DNAJC19, REEP1, ALDH2, SEMA4A, HTRA2, KCNV2, SNRNP200, CABP4, GNAT1, CACNA2D4, MRPS16, TSFM, PRCD, RD3, TUFM, CRTAP, PNPLA2, HAX1, SLC25A3, P3H1, TUSC3, DARS2, COG8, COG1, ACAD8, RARS2, GYS1, TUBA1A, MRPS22, CYCS, RFT1, COQ8A, SUCLA2, STXBP1, SLC9A3R1, SLC39A13, SDHB, PLOD3, RPL35A, AK1, SOD2, RDH12, COX4I2, SPR, GATM, GAMT, ADAM9, ENO3, LDHA, PGM1, DPM3, KLHL7, SLC25A12, TMEM126A, TLR3, PHKG2, GFER, PDE6C, ABAT, TRPM1, TSPAN12, CAVIN1, LRAT, GRK1, PCARE, GCKR, GPI, IMPG2, CNGA1, CYP24A1, G6PC, PYGL, NUBPL, NDUFA10, TAT, FAM161A, FYCO1, XPNPEP3, MTPAP, MSRB3, GNAT2, TTC19, HSD3B2, CCDC28B, HMGCL, NDUFAF1, PCK2, FAH, PHKA2, RS1, NFU1, CNGB1, RGR, CCDC39, PDE6A, GUCA1B, SLC24A1, SARS2, SP7, DHDDS, MERTK, SERPINF1, PRPF6, HAGH, TMEM70, ACAT2, HPS3, HPS4, HPS5, HPS6, BLOC1S3, HP, CAT, ALDH6A1, PDHB, LDHB, DIABLO, GPX1, ACSF3, BOLA3, DGUOK, DNM1L, HPS1, GOT1, ALDH18A1, AGK, COX14, NDUFA9, GPD1, NDUFB3, LIAS, C8orf37, HARS, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, CYP4V2, PPP2R1B, PRKN, PMM2, MGAT2, SLC25A20, SLC22A5, SIX6, CYP27A1, ASS1, CNGA3, SLC3A1, COX6B1, FASTKD2, LRPPRC, GLYCTK, FXN, GALK1, GALE, GALT, GCDH, ETFDH, ETFA, ETFB, GBE1, PYGM, PFKM, CYBA, HK1, CBS, L2HGDH, NAGS, SLC25A15, TNFRSF11B, ALDH4A1, IVD, OXCT1, GALC, DLAT, SUCLG1, MLYCD, MAN2B1, MANBA, DBT, HIBCH, CYB5A, CYB5R3, MUT, MMAA, MMAB, MCEE, NDUFAF5, NDUFS2, NDUFS6, NDUFV2, NDUFV1, NDUFS1, NDUFAF4, NDUFA11, NDUFA1, NDUFAF3, SDHAF1, MOCS1, MOCS2, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, CHAT, CPT1A, ISCU, NDUFAF6, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, CTSA, NME1, MPV17, GRM6, OAT, PPIB, TCIRG1, TNFSF11, OSTM1, CA2, FAM20C, AGXT, GIF, CUBN, PAH, QDPR, PTS, PGAM2, PHKB, ACOX1, CYP27B1, CTSK, ALDH7A1, NT5C3A, SLC35C1, PHYH, AK2, LPIN1, HEXB, SARDH, ALDH3A2, ALDH5A1, SUOX, GM2A, HEXA, TCN2, ABHD5, LMBRD1, MMADHC, XDH, ABCD1, BCOR, SLC9A6, AMER1, ACSL4, PHKA1, MAOA, AIFM1, DDOST, DHODH, IDH3B, NDUFA12, ACO2, MRPL3, COQ6, PDSS1, PDSS2, COQ9, CDH23, MTO1, WHRN, SLC26A4, FBN1, CYP11B2, MECP2, SMPD1, CRB1, CRX, GUCY2D, IMPDH1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, RPGRIP1, SAG, TULP1, VCP, FH, OPA3, RAF1, HADHA, PANK2, SDHC, CRYAB, MFN2, SLC25A13, ALAS2, KIF1B, NDUFAF2, RRM2B, FOXRED1, CYP11B1, AFG3L2, GARS, GCK, SLC25A4, SLC25A19, HSPD1, NDUFS4, POLG, DLD, AASS, DSP, PRPH2, ME2, SHH, PCDH15, NPHP4, USH2A, TRIM32, TTC8, CLRN1, CEP290, ADGRV1, MKKS, NPHP1, NPHP3, ARL6, KCNJ13, TMEM67, NHS, HPRT1, CNGB3, CYP1B1, OTX2, NDP, MFRP, CACNA1F, JAG1, ABCA4, PITX2, ELOVL4, FOXC1, OCRL, HSD17B10, GNE, SRD5A3, ATP6V0A2, PRODH, CC2D2A, GLB1, GNPTAB, PSAP, COMT, WFS1, DTNBP1, CLCN7, PYCR1, CASP8, TRMU, ABCB6, KRT5, OPA1, CPT2, CPS1, HSD17B4, AMACR, MTRR, SLC16A1, ABCA12, INPP5E, TNFRSF11A, GPR143, OPTN, RP1, EYA4, PDZD7, SLC37A4, ELN, TYR, MC1R, RET, MTR, HNF1B, LEMD3, SDHAF2, TUBB3, PITX3, TGFBI, RILP, PSEN1, RB1, CHM, TLR4, ELAC2, ZEB1, TGFB1, PAX6, WT1, SLC45A2, AMN, SOST, APP, SLC34A1, VSX1, OCA2, PRKCG, STAT1, STAR, KRT3, KRT12, GPD2, EFEMP1, SNCB, COL5A2, COL5A1, MEN1, WWOX, FZD4, KIF21A, RDH5, TIMP3, MYOC, OGG1, STAT3, RPS14, LMX1B, SEPT9, TMEM127, PPOX, ZFHX3, FECH, RP9, SLC22A4, HESX1, ANKRD26, NCOA4, CYP17A1, OGDH, ALMS1, CLN3, TPP1, GLRX5, SLC25A38, SOX2, ASL, APTX, BBS2, PDE6G, RP1L1, SPTLC2, KARS, IDH2, CDHR1, SCP2, CYP11A1, NRL, COL3A1, COL1A2, COL1A1, COL2A1, LRP5, PPARG, EYA1, FBLN5, TYRP1, RAX, MMACHC, SPATA7, NEUROD1, OPN1LW, HBB, HNF1A, OPN1MW, INVS, FOXL2, ADSL, GAA, C12orf65, TWNK, BEST1, BCS1L, BCKDHB, BCKDHA, B4GALT7, AUH, ATPAF2, ATP8B1, ATP7B, BTD, ATP7A, FKBP10, ATP5F1E, TYROBP, HLCS, UQCRB, ANKH, ARG1, UQCRQ, USH1C, GYS2, PC, FBP1, USH1G, ALDOB, ALDOA, YARS2, AIPL1, ZNF513, ACAT1, ACADVL, AGL, ACADS, ACADM, ACAD9, ACACA, ABHD12, ABCB4, ABCB11, AARS2, MCCC2, MCCC1, TP53, MUTYH, VHL, UBE3A, MTHFR, BRCA1 Specificity 1 % Genes 5 %
RPGR Sequence Analysis. By Baylor Miraca Genetics Laboratories in United States. RPGR Specificity 100 % Genes 3 %
Cone-Rod Dystrophy Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. CNNM4, PDE6H, RAX2, RAB28, TTLL5, POC1B, ATF6, CFAP410, UNC119, RDH5, CNGA3, PITPNM3, GUCA1A, EYS, RIMS1, CERKL, SEMA4A, KCNV2, CACNA2D4, ADAM9 , (...) View the complete list with 17 more genes Panel GTR000558965 complete gene list CNNM4, PDE6H, RAX2, RAB28, TTLL5, POC1B, ATF6, CFAP410, UNC119, RDH5, CNGA3, PITPNM3, GUCA1A, EYS, RIMS1, CERKL, SEMA4A, KCNV2, CACNA2D4, ADAM9, PDE6C, CDHR1, GNAT2, C8orf37, CRB1, CRX, GUCY2D, PROM1, RPGR, RPGRIP1, TULP1, PRPH2, CNGB3, CACNA1F, ABCA4, BEST1, AIPL1 Specificity 3 % Genes 3 %
Primary Ciliary Dyskinesia and Cystic Fibrosis Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, DRC1, ZMYND10, ARMC4, RSPH1 , (...) View the complete list with 22 more genes Panel GTR000556372 complete gene list DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, DRC1, ZMYND10, ARMC4, RSPH1, DNAAF4, CFAP298, CCDC65, SPAG1, CCNO, CCDC151, CENPF, RSPH3, GAS8, DNAJB13, TTC25, MCIDAS, DNAH1, DNAH8, OFD1, SCNN1B, SCNN1G, SCNN1A, CFTR, CCDC39, RPGR, INVS Specificity 86 % Genes 90 %
Ciliopathies. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. EVC2, EVC, ARL13B, GLIS2, IFT80, CPLANE1, CEP41, GATA4, GDF1, IFT43, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, ZIC3, B9D1 , (...) View the complete list with 73 more genes Panel GTR000552165 complete gene list EVC2, EVC, ARL13B, GLIS2, IFT80, CPLANE1, CEP41, GATA4, GDF1, IFT43, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, ZIC3, B9D1, SDCCAG8, WDPCP, WDR19, NKX2-5, DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, NODAL, WDR35, OFD1, PKD2, TMEM216, PKHD1, TSC1, TSC2, CFTR, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, MYO7A, LCA5, IQCB1, TOPORS, RD3, RDH12, LRAT, XPNPEP3, CCDC28B, CCDC39, CDH23, WHRN, CRB1, CRX, GUCY2D, IMPDH1, RPE65, RPGR, RPGRIP1, TULP1, PCDH15, NPHP4, USH2A, TRIM32, TTC8, CLRN1, CEP290, ADGRV1, MKKS, NPHP1, NPHP3, KCNJ13, TMEM67, CC2D2A, SPATA7, INVS, USH1C, USH1G, VHL Specificity 17 % Genes 38 %
PulmoGene Panel (64 Genes). By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States. GDNF, ASCL1, BDNF, SFTPA1, SFTPA2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, SFTPC, ABCA3, NKX2-1, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, LTBP4, DNAAF1 , (...) View the complete list with 44 more genes Panel GTR000509127 complete gene list GDNF, ASCL1, BDNF, SFTPA1, SFTPA2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, SFTPC, ABCA3, NKX2-1, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, LTBP4, DNAAF1, MUC5B, CCDC40, DNAL1, CSF2RB, EFEMP2, CSF2RA, SMAD9, RSPH1, DOCK8, SFTPD, TERT, ELMOD2, ACVRL1, TERC, BLOC1S6, EDN3, SCNN1B, SCNN1G, SCNN1A, NF1, SERPINA1, ENG, FLCN, PHOX2B, TSC1, TSC2, HRAS, FOXF1, CFTR, STAT3, AP3B1, CCDC39, HPS3, HPS4, HPS5, HPS6, BLOC1S3, HPS1, FBN1, RPGR, DTNBP1, ELN, RET, FBLN5 Specificity 22 % Genes 35 %
Retinitis Pigmentosa/Leber Congenital Amaurosis Panel, Sequencing and Deletion/Duplication, 53 Genes. By ARUP Laboratories, Molecular Genetics and Genomics in United States. ROM1, PRPF3, NR2E3, RP9, RP2, PRPF8, PRPF31, CA4, EYS, LCA5, FSCN2, CERKL, TOPORS, SEMA4A, SNRNP200, PRCD, RD3, RDH12, KLHL7, LRAT , (...) View the complete list with 33 more genes Panel GTR000501118 complete gene list ROM1, PRPF3, NR2E3, RP9, RP2, PRPF8, PRPF31, CA4, EYS, LCA5, FSCN2, CERKL, TOPORS, SEMA4A, SNRNP200, PRCD, RD3, RDH12, KLHL7, LRAT, PCARE, CDHR1, NRL, CNGA1, CNGB1, RGR, PDE6A, GUCA1B, DHDDS, MERTK, IDH3B, CRB1, CRX, GUCY2D, IMPDH1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, RPGRIP1, SAG, TULP1, PRPH2, USH2A, TTC8, CEP290, ABCA4, RP1, SPATA7, BEST1, AIPL1 Specificity 2 % Genes 3 %
RPGR. Sequencing of the exons 1-15. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. RPGR Specificity 100 % Genes 3 %
Primary Ciliary Dyskinesia Seq + Del/Dup Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. HYDIN, DNAH6, DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, DRC1, ZMYND10 , (...) View the complete list with 17 more genes Panel GTR000553461 complete gene list HYDIN, DNAH6, DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, DRC1, ZMYND10, ARMC4, RSPH1, DNAAF4, CCDC65, SPAG1, CCNO, CCDC151, RSPH3, GAS8, MCIDAS, DNAH1, DNAH8, OFD1, CFTR, CCDC39, RPGR, INVS Specificity 92 % Genes 85 %
Comprehensive Pulmonary-Vascular Del/Dup Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. HYDIN, DNAH6, COPA, EIF2AK4, NOTCH2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, ABCA3, NKX2-1, DNAH11, KCNA5, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40 , (...) View the complete list with 44 more genes Panel GTR000553479 complete gene list HYDIN, DNAH6, COPA, EIF2AK4, NOTCH2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, ABCA3, NKX2-1, DNAH11, KCNA5, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, CSF2RB, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, CSF2RA, DRC1, SMAD9, CAV1, KCNK3, ARMC4, RSPH1, DNAAF4, CCDC65, SPAG1, GDF2, CCNO, CCDC151, RSPH3, GAS8, TERT, MCIDAS, DNAH1, DNAH8, BMPR1B, ACVRL1, TERC, MARS, DKC1, RASA1, OFD1, FLNA, SLC7A7, ENG, GATA2, SMAD4, FOXF1, CFTR, CCDC39, RPGR, JAG1, INVS Specificity 52 % Genes 83 %
Primary Ciliary Dyskinesia Del/Dup Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. HYDIN, DNAH6, DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, DRC1, ZMYND10 , (...) View the complete list with 17 more genes Panel GTR000553487 complete gene list HYDIN, DNAH6, DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, DRC1, ZMYND10, ARMC4, RSPH1, DNAAF4, CCDC65, SPAG1, CCNO, CCDC151, RSPH3, GAS8, MCIDAS, DNAH1, DNAH8, OFD1, CFTR, CCDC39, RPGR, INVS Specificity 92 % Genes 85 %
Comprehensive Pulmonary-Vascular Seq + Del/Dup Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. HYDIN, DNAH6, COPA, EIF2AK4, NOTCH2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, ABCA3, NKX2-1, DNAH11, KCNA5, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40 , (...) View the complete list with 44 more genes Panel GTR000553502 complete gene list HYDIN, DNAH6, COPA, EIF2AK4, NOTCH2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, ABCA3, NKX2-1, DNAH11, KCNA5, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, CSF2RB, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, CSF2RA, DRC1, SMAD9, CAV1, KCNK3, ARMC4, RSPH1, DNAAF4, CCDC65, SPAG1, GDF2, CCNO, CCDC151, RSPH3, GAS8, TERT, MCIDAS, DNAH1, DNAH8, BMPR1B, ACVRL1, TERC, MARS, DKC1, RASA1, OFD1, FLNA, SLC7A7, ENG, GATA2, SMAD4, FOXF1, CFTR, CCDC39, RPGR, JAG1, INVS Specificity 52 % Genes 83 %
Cone-rod dystrophy, X-linked (sequence analysis of exon 15a of RPGR gene). By CGC Genetics in Portugal. RPGR Specificity 100 % Genes 3 %
Retinitis pigmentosa 3 (sequence analysis of RPGR gene). By CGC Genetics in Portugal. RPGR Specificity 100 % Genes 3 %
Retinitis pigmentosa (NGS panel for 72 genes). By CGC Genetics in Portugal. RDH11, TUB, ECM1, KIAA1549, ADGRA3, ARL2BP, NEK2, PRPF4, RBP4, DHX38, GNPTG, NMNAT1, ROM1, RBP3, PRPF3, NR2E3, MAK, RP9, BBS1, CYP4V2 , (...) View the complete list with 52 more genes Panel GTR000525246 complete gene list RDH11, TUB, ECM1, KIAA1549, ADGRA3, ARL2BP, NEK2, PRPF4, RBP4, DHX38, GNPTG, NMNAT1, ROM1, RBP3, PRPF3, NR2E3, MAK, RP9, BBS1, CYP4V2, RP2, PRPF8, PRPF31, CA4, EYS, FSCN2, CERKL, FLVCR1, TOPORS, SEMA4A, SNRNP200, PRCD, RDH12, KLHL7, LRAT, PCARE, IMPG2, PDE6G, RP1L1, NRL, CNGA1, FAM161A, CNGB1, RGR, PDE6A, GUCA1B, DHDDS, MERTK, PRPF6, C8orf37, IDH3B, CRB1, CRX, IMPDH1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, SAG, TULP1, PRPH2, USH2A, TTC8, CLRN1, ARL6, ABCA4, RP1, SPATA7, BEST1, ZNF513 Specificity 2 % Genes 3 %
Retinitis pigmentosa, AR and X-linked (NGS panel for 53 genes). By CGC Genetics in Portugal. RDH11, TUB, KIAA1549, ADGRA3, ARL2BP, NEK2, EMC1, RBP4, DHX38, GNPTG, NMNAT1, RBP3, NR2E3, MAK, BBS1, CYP4V2, RP2, EYS, CERKL, FLVCR1 , (...) View the complete list with 33 more genes Panel GTR000525283 complete gene list RDH11, TUB, KIAA1549, ADGRA3, ARL2BP, NEK2, EMC1, RBP4, DHX38, GNPTG, NMNAT1, RBP3, NR2E3, MAK, BBS1, CYP4V2, RP2, EYS, CERKL, FLVCR1, PRCD, RDH12, LRAT, PCARE, IMPG2, PDE6G, RP1L1, NRL, CNGA1, FAM161A, CNGB1, RGR, PDE6A, DHDDS, MERTK, C8orf37, IDH3B, CRB1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, SAG, TULP1, USH2A, TTC8, ABCA4, RP1, SPATA7, BEST1, ZNF513 Specificity 2 % Genes 3 %
Retinitis pigmentosa, AD and X-linked (NGS panel for 27 genes). By CGC Genetics in Portugal. PRPF4, ROM1, PRPF3, NR2E3, RP9, RP2, PRPF8, PRPF31, CA4, FSCN2, TOPORS, SEMA4A, SNRNP200, RDH12, KLHL7, NRL, RGR, GUCA1B, PRPF6, CRX , (...) View the complete list with 7 more genes Panel GTR000525285 complete gene list PRPF4, ROM1, PRPF3, NR2E3, RP9, RP2, PRPF8, PRPF31, CA4, FSCN2, TOPORS, SEMA4A, SNRNP200, RDH12, KLHL7, NRL, RGR, GUCA1B, PRPF6, CRX, IMPDH1, RHO, RPE65, RPGR, PRPH2, RP1, BEST1 Specificity 4 % Genes 3 %
X-linked Retinitis Pigmentosa (XLRP) via the RPGR (includes ORF15) Gene. By PreventionGenetics PreventionGenetics in United States. RPGR Specificity 100 % Genes 3 %
X-linked Retinitis Pigmentosa (XLRP) (includes RPGR ORF15) and Choroideremia Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. OFD1, RP2, RPGR, CHM Specificity 50 % Genes 5 %
Retinitis Pigmentosa (includes RPGR ORF15) Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. PLA2G5, KIAA1549, ADGRA3, ARL2BP, SLC7A14, EMC1, OFD1, ROM1, RBP3, PRPF3, NR2E3, MAK, CLN3, RP2, PRPF8, PRPF31, CA4, PITPNM3, EYS, LCA5 , (...) View the complete list with 60 more genes Panel GTR000531410 complete gene list PLA2G5, KIAA1549, ADGRA3, ARL2BP, SLC7A14, EMC1, OFD1, ROM1, RBP3, PRPF3, NR2E3, MAK, CLN3, RP2, PRPF8, PRPF31, CA4, PITPNM3, EYS, LCA5, C1QTNF5, FSCN2, CERKL, FLVCR1, TOPORS, SEMA4A, SNRNP200, PRCD, RD3, RDH12, KLHL7, LRAT, PCARE, IMPG2, PDE6G, CDHR1, NRL, CNGA1, FAM161A, CNGB1, RGR, PDE6A, GUCA1B, DHDDS, MERTK, PRPF6, C8orf37, IDH3B, CRB1, CRX, GUCY2D, IMPDH1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, RPGRIP1, SAG, TULP1, PRPH2, USH2A, TTC8, CLRN1, CEP290, ARL6, MFRP, CACNA1F, ABCA4, INPP5E, RP1, CHM, PRKCG, SPATA7, NEUROD1, BEST1, AIPL1, ZNF513, ABHD12 Specificity 3 % Genes 5 %
Primary Ciliary Dyskinesia (PCD)/Immotile Cilia Syndrome and Cystic Fibrosis Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. PIH1D3, AK7, DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, DRC1, ZMYND10 , (...) View the complete list with 20 more genes Panel GTR000505674 complete gene list PIH1D3, AK7, DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, DRC1, ZMYND10, ARMC4, RSPH1, DNAAF4, CFAP298, CCDC65, SPAG1, CCNO, CCDC151, RSPH3, GAS8, DNAJB13, TTC25, MCIDAS, DNAH1, DNAH8, OFD1, CFTR, CCDC39, RPGR, INVS Specificity 93 % Genes 93 %
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. ACBD5, OR2W3, CFAP57, CEP250, SLC4A7, REEP6, NXNL1, MIR204, IFT81, PRDM13, IFT88, CAPN5, HMX1, ADAMTS18, RDH11, TUB, PCYT1A, RGS9BP, PLA2G5, VCAN , (...) View the complete list with 285 more genes Panel GTR000552334 complete gene list ACBD5, OR2W3, CFAP57, CEP250, SLC4A7, REEP6, NXNL1, MIR204, IFT81, PRDM13, IFT88, CAPN5, HMX1, ADAMTS18, RDH11, TUB, PCYT1A, RGS9BP, PLA2G5, VCAN, PEX11B, CEP78, KIAA1549, RCBTB1, ADGRA3, TRNT1, ITM2B, RTN4IP1, LAMA1, COL18A1, TUBGCP6, TUBGCP4, PLK4, LRP2, CEP83, ZNF423, CEP164, CSPP1, PDE6D, TMEM107, IFT172, TCTN3, SLC25A46, VSX2, B9D2, ARL13B, IFT80, CPLANE1, CEP41, IFT43, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, CFH, PGK1, KIF11, SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, ADIPOR1, ARL2BP, NEK2, SLC7A14, KIZ, PRPF4, WDR19, ZNF408, EMC1, AGBL5, RBP4, ARL3, SPP2, DHX38, HMCN1, CDH3, IMPG1, DRAM2, CTNNA1, IFT140, GDF6, DTHD1, GPR179, LRIT3, CNNM4, PDE6H, RAX2, RAB28, TTLL5, POC1B, ATF6, CFAP410, UNC119, GNPTG, ABCC6, PEX6, PRPS1, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, CIB2, VPS13B, TREX1, OFD1, NR2F1, MFSD8, DNAJC5, HCN1, LARGE1, ISPD, PNPLA6, AHI1, TMEM216, CLN5, TTPA, PEX1, PEX7, PPT1, PEX2, MTTP, CLN8, CLN6, GJB6, GJB2, NMNAT1, ROM1, RBP3, PRPF3, NR2E3, MAK, TEAD1, PAX2, EFEMP1, FZD4, RDH5, TIMP3, RP9, ALMS1, CLN3, TPP1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, CYP4V2, CNGA3, HK1, HGSNAT, GRM6, OAT, PHYH, ABCD1, TIMM8A, NYX, FRMD7, RP2, PRPF8, PRPF31, CA4, PITPNM3, MYO7A, GUCA1A, EYS, RIMS1, LCA5, CISD2, C1QTNF5, GRN, FSCN2, CERKL, RGS9, FLVCR1, IQCB1, TOPORS, CTSD, SEMA4A, KCNV2, SNRNP200, CABP4, GNAT1, CACNA2D4, PRCD, MVK, WDR35, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, KIAA0586, CTNNB1, TMEM231, RD3, RDH12, ADAM9, KLHL7, TMEM126A, PDE6C, TRPM1, TSPAN12, LRAT, GRK1, PCARE, IMPG2, PDE6G, RP1L1, CDHR1, NRL, CNGA1, FAM161A, GNAT2, RS1, CNGB1, RGR, PDE6A, GUCA1B, SLC24A1, DHDDS, MERTK, PRPF6, C8orf37, HARS, IDH3B, ACO2, CDH23, WHRN, CRB1, CRX, GUCY2D, IMPDH1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, RPGRIP1, SAG, TULP1, OPA3, PANK2, MFN2, PRPH2, PCDH15, NPHP4, USH2A, TRIM32, TTC8, CLRN1, CEP290, ADGRV1, MKKS, NPHP1, NPHP3, ARL6, KCNJ13, TMEM67, CNGB3, OTX2, NDP, MFRP, CACNA1F, JAG1, ABCA4, ELOVL4, CC2D2A, WFS1, OPA1, AMACR, INPP5E, RP1, PDZD7, CHM, PRKCG, COL2A1, LRP5, FBLN5, MMACHC, SPATA7, NEUROD1, INVS, C12orf65, BEST1, USH1C, USH1G, AIPL1, ZNF513, ABHD12 Specificity 1 % Genes 5 %
Ciliopathy Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. ANKS6, CEP83, ZNF423, CEP164, CSPP1, PDE6D, KIF14, TCTN3, CFAP53, B9D2, ACVR2B, LEFTY2, ARL13B, GLIS2, CPLANE1, CEP41, GDF1, KIF7, NEK8, RPGRIP1L , (...) View the complete list with 73 more genes Panel GTR000505776 complete gene list ANKS6, CEP83, ZNF423, CEP164, CSPP1, PDE6D, KIF14, TCTN3, CFAP53, B9D2, ACVR2B, LEFTY2, ARL13B, GLIS2, CPLANE1, CEP41, GDF1, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, ZIC3, B9D1, SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, WDR19, NKX2-5, DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, DRC1, ZMYND10, ARMC4, RSPH1, DNAAF4, CFAP298, CCDC65, SPAG1, CCNO, CCDC151, DNAH8, FOXH1, NODAL, TMEM231, DCDC2, OFD1, AHI1, TMEM216, CFTR, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, IQCB1, CCDC39, RPGR, NPHP4, TRIM32, TTC8, CEP290, MKKS, NPHP1, NPHP3, ARL6, TMEM67, CC2D2A, INPP5E, INVS Specificity 33 % Genes 75 %
Primary Ciliary Dyskinesia Panel. By CeGaT GmbH in Germany. HYDIN, DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, DRC1, ZMYND10, ARMC4 , (...) View the complete list with 14 more genes Panel GTR000522398 complete gene list HYDIN, DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, DRC1, ZMYND10, ARMC4, RSPH1, DNAAF4, CFAP298, CCDC65, SPAG1, CCNO, CCDC151, CENPF, RSPH3, GAS8, DNAH8, OFD1, CCDC39, RPGR Specificity 98 % Genes 83 %
X-Linked Retinitis Pigmentosa (includes RPGR ORF15). By Asper Biogene Asper Biogene LLC in Estonia. OFD1, RP2, RPGR Specificity 67 % Genes 5 %
Cone-Rod Dystrophy. By Asper Biogene Asper Biogene LLC in Estonia. CNNM4, PDE6H, RAX2, RAB28, UNC119, RDH5, PITPNM3, GUCA1A, RIMS1, CERKL, SEMA4A, KCNV2, CABP4, CACNA2D4, ADAM9, PDE6C, CDHR1, GNAT2, C8orf37, CRX , (...) View the complete list with 10 more genes Panel GTR000520060 complete gene list CNNM4, PDE6H, RAX2, RAB28, UNC119, RDH5, PITPNM3, GUCA1A, RIMS1, CERKL, SEMA4A, KCNV2, CABP4, CACNA2D4, ADAM9, PDE6C, CDHR1, GNAT2, C8orf37, CRX, GUCY2D, PROM1, RPGR, RPGRIP1, PRPH2, CNGB3, CACNA1F, ABCA4, BEST1, AIPL1 Specificity 4 % Genes 3 %
Eye diseases comprehensive panel. By Asper Biogene Asper Biogene LLC in Estonia. ZNF644, YAP1, JAM3, HMX1, ADAMTS18, SMOC1, CRYGS, HSF4, VIM, EPHA2, CRYGB, CRYGC, CRYBB2, MIP, CRYBA1, BFSP2, CHMP4B, CRYGD, RGS9BP, PLA2G5 , (...) View the complete list with 255 more genes Panel GTR000553865 complete gene list ZNF644, YAP1, JAM3, HMX1, ADAMTS18, SMOC1, CRYGS, HSF4, VIM, EPHA2, CRYGB, CRYGC, CRYBB2, MIP, CRYBA1, BFSP2, CHMP4B, CRYGD, RGS9BP, PLA2G5, VCAN, CRYAA, LIM2, TDRD7, CRYBB3, CRYBB1, TACSTD2, UBIAD1, PIKFYVE, DCN, COL8A2, ITM2B, LAMA1, FRAS1, FREM2, GRIP1, B3GLCT, PRSS56, GDF3, BMP4, CRYBA4, VSX2, FREM1, VAX1, ARL13B, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, FTL, GJA1, CFH, CTDP1, KIF11, C19orf12, SDCCAG8, WDPCP, LZTFL1, WDR19, RBP4, CHST6, CDH3, IFT140, GDF6, GPR179, CNNM4, PDE6H, RAX2, RAB28, UNC119, GNPTG, ZNF469, ABCC6, PRDM5, NAA10, MVK, SLC4A11, COL11A2, COL11A1, COL9A2, GIPC3, COL9A1, CIB2, VPS13B, TREX1, OFD1, MFSD8, COL4A1, AHI1, TMEM216, CLN5, PEX7, PPT1, MTTP, CLN8, CLN6, NMNAT1, ROM1, RBP3, PRPF3, NR2E3, MAK, GSN, TEAD1, PAX2, KRT3, KRT12, EFEMP1, FZD4, RDH5, TIMP3, MYOC, RP9, ALMS1, CLN3, TPP1, SOX2, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, CYP4V2, SIX6, CNGA3, GALK1, GALT, GRM6, OAT, PHYH, BCOR, TIMM8A, HCCS, NYX, RP2, PRPF8, PRPF31, CA4, PITPNM3, STRA6, MYO7A, GJA3, GUCA1A, EYS, RIMS1, LCA5, C1QTNF5, GRN, FSCN2, CERKL, RGS9, FLVCR1, IQCB1, TOPORS, CTSD, SEMA4A, SNRNP200, CABP4, GNAT1, CACNA2D4, PRCD, RD3, RDH12, ADAM9, KLHL7, TMEM126A, GFER, PDE6C, TRPM1, TSPAN12, LRAT, GRK1, PCARE, IMPG2, PDE6G, RP1L1, CDHR1, NRL, CNGA1, FAM161A, FYCO1, GNAT2, RS1, CNGB1, RGR, PDE6A, GUCA1B, SLC24A1, DHDDS, MERTK, PRPF6, AGK, C8orf37, HARS, IDH3B, CDH23, WHRN, CRB1, CRX, GUCY2D, IMPDH1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, RPGRIP1, SAG, TULP1, OPA3, PANK2, CRYAB, MFN2, PRPH2, PCDH15, NPHP4, USH2A, TRIM32, TTC8, CLRN1, CEP290, ADGRV1, MKKS, NPHP1, NPHP3, ARL6, KCNJ13, TMEM67, NHS, CNGB3, CYP1B1, OTX2, NDP, MFRP, CACNA1F, JAG1, ABCA4, PITX2, ELOVL4, CC2D2A, WFS1, ABCB6, OPA1, GPR143, RP1, PDZD7, TYR, PITX3, TGFBI, CHM, ZEB1, PAX6, SLC45A2, VSX1, COL2A1, LRP5, TYRP1, SPATA7, OPN1MW, INVS, BEST1, USH1C, USH1G, AIPL1, ZNF513, ABHD12 Specificity 1 % Genes 5 %
Retinal Dystrophy Panel. By Molecular Vision Laboratory in United States. CKAP4, DGKQ, RHEX, ACBD5, OR2W3, CEP250, SLC4A7, MIR204, IFT81, HMX1, ADAMTS18, RDH11, TUB, RGS9BP, PLA2G5, VCAN, PEX11B, KIAA1549, ADGRA3, TRNT1 , (...) View the complete list with 267 more genes Panel GTR000522537 complete gene list CKAP4, DGKQ, RHEX, ACBD5, OR2W3, CEP250, SLC4A7, MIR204, IFT81, HMX1, ADAMTS18, RDH11, TUB, RGS9BP, PLA2G5, VCAN, PEX11B, KIAA1549, ADGRA3, TRNT1, ITM2B, RTN4IP1, LAMA1, TUBGCP6, TUBGCP4, PLK4, ZNF423, CEP164, CSPP1, PDE6D, IFT172, TCTN3, SLC25A46, B9D2, MT-TV, MT-TH, MT-ND4L, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, CFH, MT-ND5, PGK1, KIF11, SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, ARL2BP, NEK2, SLC7A14, KIZ, PRPF4, WDR19, ZNF408, EMC1, RBP4, ARL3, SPP2, DHX38, HMCN1, CDH3, IMPG1, DRAM2, CTNNA1, IFT140, GDF6, DTHD1, GPR179, LRIT3, CNNM4, PDE6H, RAX2, RAB28, TTLL5, POC1B, ATF6, CFAP410, UNC119, ABCC6, MVK, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, TMEM231, PRPS1, CIB2, VPS13B, TREX1, OFD1, NR2F1, MFSD8, DNAJC5, CTSF, HCN1, KCTD7, PNPLA6, MT-ND4, MT-ND6, MT-ND1, AHI1, MT-TL1, TMEM216, CLN5, TTPA, PEX1, PEX7, PPT1, PEX2, MTTP, CLN8, CLN6, GJB6, GJB2, NMNAT1, ROM1, RBP3, PRPF3, NR2E3, MAK, TEAD1, PAX2, EFEMP1, FZD4, RDH5, TIMP3, RP9, ALMS1, CLN3, TPP1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, CYP4V2, CNGA3, HK1, HGSNAT, GRM6, OAT, PHYH, ABCD1, TIMM8A, NYX, RP2, PRPF8, PRPF31, PEX6, CA4, PITPNM3, MYO7A, GUCA1A, EYS, RIMS1, LCA5, CISD2, C1QTNF5, GRN, FSCN2, CERKL, RGS9, FLVCR1, IQCB1, TOPORS, CTSD, SEMA4A, KCNV2, SNRNP200, CABP4, GNAT1, CACNA2D4, PRCD, RD3, RDH12, ADAM9, KLHL7, TMEM126A, PDE6C, TRPM1, TSPAN12, LRAT, GRK1, PCARE, IMPG2, PDE6G, RP1L1, CDHR1, NRL, CNGA1, FAM161A, GNAT2, RS1, CNGB1, RGR, PDE6A, GUCA1B, SLC24A1, DHDDS, MERTK, PRPF6, C8orf37, HARS, IDH3B, ACO2, CDH23, WHRN, CRB1, CRX, GUCY2D, IMPDH1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, RPGRIP1, SAG, TULP1, OPA3, PANK2, MFN2, PRPH2, PCDH15, NPHP4, USH2A, TRIM32, TTC8, CLRN1, CEP290, ADGRV1, MKKS, NPHP1, NPHP3, ARL6, KCNJ13, TMEM67, CNGB3, OTX2, NDP, MFRP, CACNA1F, JAG1, ABCA4, ELOVL4, CC2D2A, WFS1, OPA1, AMACR, INPP5E, RP1, PDZD7, CHM, LRP5, MMACHC, SPATA7, NEUROD1, OPN1LW, OPN1MW, INVS, C12orf65, BEST1, USH1C, USH1G, AIPL1, ZNF513, ABHD12 Specificity 1 % Genes 5 %
Cone Rod Dystrophy panel. By Molecular Vision Laboratory in United States. CNNM4, PDE6H, RAX2, RAB28, TTLL5, POC1B, ATF6, CFAP410, UNC119, RDH5, CNGA3, PITPNM3, GUCA1A, RIMS1, CERKL, SEMA4A, KCNV2, CACNA2D4, ADAM9, PDE6C , (...) View the complete list with 13 more genes Panel GTR000523346 complete gene list CNNM4, PDE6H, RAX2, RAB28, TTLL5, POC1B, ATF6, CFAP410, UNC119, RDH5, CNGA3, PITPNM3, GUCA1A, RIMS1, CERKL, SEMA4A, KCNV2, CACNA2D4, ADAM9, PDE6C, CDHR1, GNAT2, C8orf37, CRX, GUCY2D, PROM1, RPGR, RPGRIP1, PRPH2, CNGB3, CACNA1F, ABCA4, AIPL1 Specificity 4 % Genes 3 %
MVL Vision Panel. By Molecular Vision Laboratory in United States. CKAP4, DGKQ, RHEX, OR2W3, CEP250, SLC4A7, MIR204, IFT81, HMX1, RDH11, TUB, RGS9BP, PLA2G5, VCAN, PEX11B, KIAA1549, ADGRA3, TRNT1, ITM2B, RTN4IP1 , (...) View the complete list with 248 more genes Panel GTR000559625 complete gene list CKAP4, DGKQ, RHEX, OR2W3, CEP250, SLC4A7, MIR204, IFT81, HMX1, RDH11, TUB, RGS9BP, PLA2G5, VCAN, PEX11B, KIAA1549, ADGRA3, TRNT1, ITM2B, RTN4IP1, LAMA1, TUBGCP6, TUBGCP4, PLK4, ZNF423, CEP164, CSPP1, PDE6D, IFT172, TCTN3, SLC25A46, MT-TV, MT-TH, MT-ND4L, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, CFH, MT-ND5, PGK1, KIF11, SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, NEK2, SLC7A14, KIZ, PRPF4, WDR19, ZNF408, EMC1, RBP4, SPP2, DHX38, HMCN1, CDH3, IMPG1, DRAM2, CTNNA1, IFT140, GDF6, DTHD1, GPR179, LRIT3, CNNM4, PDE6H, RAX2, RAB28, TTLL5, POC1B, CFAP410, UNC119, MVK, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, TMEM231, PEX6, PRPS1, CIB2, VPS13B, TREX1, OFD1, NR2F1, MFSD8, DNAJC5, CTSF, HCN1, KCTD7, PNPLA6, MT-ND4, MT-ND6, MT-ND1, MT-TL1, TMEM216, CLN5, TTPA, PEX1, PEX7, PPT1, PEX2, MTTP, CLN8, CLN6, GJB6, GJB2, NMNAT1, ROM1, RBP3, PRPF3, NR2E3, MAK, TEAD1, PAX2, EFEMP1, FZD4, RDH5, TIMP3, RP9, CLN3, TPP1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, CYP4V2, CNGA3, HK1, HGSNAT, GRM6, OAT, PHYH, TIMM8A, NYX, RP2, PRPF8, PRPF31, CA4, PITPNM3, MYO7A, GUCA1A, EYS, RIMS1, LCA5, CISD2, C1QTNF5, GRN, FSCN2, CERKL, RGS9, FLVCR1, IQCB1, TOPORS, CTSD, SEMA4A, KCNV2, SNRNP200, CABP4, GNAT1, CACNA2D4, PRCD, RD3, RDH12, KLHL7, TMEM126A, PDE6C, TRPM1, TSPAN12, LRAT, GRK1, PCARE, IMPG2, PDE6G, RP1L1, CDHR1, NRL, CNGA1, FAM161A, GNAT2, RS1, CNGB1, RGR, PDE6A, GUCA1B, SLC24A1, DHDDS, MERTK, PRPF6, C8orf37, HARS, IDH3B, CDH23, WHRN, CRB1, CRX, GUCY2D, IMPDH1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, RPGRIP1, SAG, TULP1, OPA3, PANK2, MFN2, PRPH2, PCDH15, NPHP4, USH2A, TRIM32, TTC8, CLRN1, CEP290, ADGRV1, MKKS, NPHP1, NPHP3, KCNJ13, TMEM67, CNGB3, OTX2, NDP, MFRP, CACNA1F, JAG1, ELOVL4, CC2D2A, WFS1, OPA1, INPP5E, RP1, PDZD7, CHM, LRP5, MMACHC, SPATA7, NEUROD1, OPN1LW, OPN1MW, INVS, C12orf65, BEST1, USH1C, USH1G, ZNF513 Specificity 1 % Genes 5 %
Retinitis pigmentosa 3. By Praxis fuer Humangenetik Wien in Austria. RPGR Specificity 100 % Genes 3 %
qCarrier Plus. By Quantitative Genomic Medicine Laboratories, SL in Spain. MPP3, FTCD, ADK, CTH, HAL, HGD, WNT10A, SLC6A19, TPO, SLC5A5, DUOX2, DUOXA2, PAX8, HJV, HOGA1, TFR2, COL7A1, SLC39A4, ARL13B, FANCA , (...) View the complete list with 280 more genes Panel GTR000552567 complete gene list MPP3, FTCD, ADK, CTH, HAL, HGD, WNT10A, SLC6A19, TPO, SLC5A5, DUOX2, DUOXA2, PAX8, HJV, HOGA1, TFR2, COL7A1, SLC39A4, ARL13B, FANCA, F8, F9, JAK3, THRB, F11, PGK1, DNAH5, CHST6, CASQ2, TRDN, THOC2, IL1RAPL1, SLC16A2, BRWD3, RPS6KA3, FTSJ1, GDI1, USP9X, UPF3B, AFF2, HUWE1, PHF8, MVK, PEX10, NLGN4X, AP1S2, TPRN, TRIOBP, TMIE, PEX6, GJB3, TMC1, PRPS1, TMPRSS3, SLC4A11, STRC, POLR1C, OTOF, CUL4B, CASK, OPHN1, SYN1, KDM5C, PAK3, GRIA3, FGD1, IQSEC2, ATRX, MFSD8, PQBP1, DCX, POMT1, POMT2, TNNT1, SPART, L1CAM, BSND, COL4A4, CYP21A2, GNRHR, KCNJ11, DYSF, FKRP, CLCN1, AHI1, SPG11, ZFYVE26, GDAP1, MTMR2, SH3TC2, NDRG1, TMEM216, PKHD1, LAMC2, CLN5, CAPN3, TTPA, PEX1, MPL, MCOLN1, GRHPR, TH, UGT1A1, SLC26A2, SACS, SERPINA1, SGCB, SGCA, PEX7, PPT1, NPHS1, PROP1, CTNS, NEB, G6PD, FKTN, LAMB3, HBA1, CLN8, CLN6, NBN, ATM, SMN1, RMRP, POU3F4, PLP1, PLOD1, NPC2, NPC1, LIPA, LDLR, IDUA, IDS, GLA, GJB2, DMD, DHCR7, GBA, FANCC, CFTR, ARX, ASPA, ARSA, AR, AIRE, IL2RG, GNMT, ARSB, AHCY, AGA, ADA, ABCD4, NR2E3, SLC6A8, CYP17A1, CLN3, TPP1, ASL, BBS2, BBS1, BBS10, MKS1, PMM2, SLC25A20, SLC22A5, CYP27A1, ASS1, SLC3A1, LRPPRC, FXN, GALK1, GALE, GALT, GCDH, ETFDH, ETFA, ETFB, GBE1, ALDH4A1, IVD, GALC, SUCLG1, MLYCD, MAN2B1, DBT, MUT, MMAB, MCEE, SGSH, NAGLU, HGSNAT, GNS, GALNS, CPT1A, SURF1, AGXT, PAH, PTS, ACOX1, HEXB, HEXA, LMBRD1, MMADHC, ABCD1, ACSL4, OTC, RP2, AGPS, MYO7A, ETHE1, EYS, AMT, GLDC, PCCB, SPG7, CERKL, ACADSB, CTSD, TSFM, TUFM, HAX1, P3H1, SUCLA2, RDH12, CNGA1, G6PC, TAT, HMGCL, FAH, RS1, CNGB1, PDE6A, DHDDS, PDHB, ACSF3, IDH3B, CDH23, WHRN, SLC26A4, MECP2, CRB1, GUCY2D, RPE65, RPGR, TULP1, FH, HADHA, PANK2, SLC25A13, DLD, PCDH15, USH2A, CLRN1, CEP290, NPHP1, TMEM67, CNGB3, NDP, ABCA4, OCRL, GLB1, GNPTAB, CPT2, CPS1, MTRR, GPR143, TYR, SLC45A2, TYRP1, RAX, HBB, GAA, BCKDHB, BCKDHA, ATP7B, BTD, HLCS, ARG1, USH1C, PC, USH1G, ALDOB, AIPL1, ACAT1, ACADVL, AGL, ACADS, ACADM, CD40LG, LDLRAP1, PCBD1, SLC46A1, EVC2, ABCB11, MCCC2, MCCC1, MTHFR, FMR1, F5, F2 Specificity 1 % Genes 5 %
Retinitis pigmentosa 3. By MedGene in Slovakia. RPGR Specificity 100 % Genes 3 %
Invitae Congenital Heart Defects and Heterotaxy Panel. By Invitae in United States. MEIS2, NKX2-6, NR2F2, MED13L, ANKS6, ZNF423, NOTCH2, CFAP53, ACVR2B, LEFTY2, GATA4, GDF1, NEK8, ZIC3, GJA1, TBX5, NKX2-5, ACTC1, DNAI1, DNAH5 , (...) View the complete list with 62 more genes Panel GTR000528542 complete gene list MEIS2, NKX2-6, NR2F2, MED13L, ANKS6, ZNF423, NOTCH2, CFAP53, ACVR2B, LEFTY2, GATA4, GDF1, NEK8, ZIC3, GJA1, TBX5, NKX2-5, ACTC1, DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, DRC1, ZMYND10, ARMC4, RSPH1, DNAAF4, CFAP298, CCDC65, SPAG1, CCNO, CCDC151, RSPH3, GAS8, MCIDAS, DNAH1, DNAH8, NOTCH1, FOXH1, NODAL, TBX1, OFD1, NF1, GPC3, NSD1, CBL, MAP2K2, RIT1, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, CHD7, BRAF, ALMS1, BBS10, MKS1, BCOR, CCDC39, RPGR, RAF1, TTC8, CEP290, NPHP3, JAG1, ELN, INVS Specificity 42 % Genes 85 %
RETINITIS PIGMENTOSA. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. GNPTG, ROM1, RBP3, PRPF3, NR2E3, MAK, RP9, BBS1, RP2, PRPF8, PRPF31, CA4, EYS, FSCN2, CERKL, FLVCR1, TOPORS, SEMA4A, SNRNP200, PRCD , (...) View the complete list with 37 more genes Panel GTR000531585 complete gene list GNPTG, ROM1, RBP3, PRPF3, NR2E3, MAK, RP9, BBS1, RP2, PRPF8, PRPF31, CA4, EYS, FSCN2, CERKL, FLVCR1, TOPORS, SEMA4A, SNRNP200, PRCD, RDH12, KLHL7, LRAT, PCARE, IMPG2, PDE6G, NRL, CNGA1, FAM161A, CNGB1, RGR, PDE6A, GUCA1B, DHDDS, MERTK, PRPF6, C8orf37, IDH3B, CRB1, CRX, IMPDH1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, SAG, TULP1, PRPH2, USH2A, TTC8, ABCA4, RP1, SPATA7, BEST1, ZNF513 Specificity 2 % Genes 3 %
Cone rod dystrophy. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. RGS9BP, CNNM4, PDE6H, RAX2, UNC119, RDH5, PITPNM3, GUCA1A, RIMS1, CERKL, RGS9, SEMA4A, KCNV2, CABP4, CACNA2D4, ADAM9, PDE6C, CDHR1, C8orf37, CRX , (...) View the complete list with 10 more genes Panel GTR000531637 complete gene list RGS9BP, CNNM4, PDE6H, RAX2, UNC119, RDH5, PITPNM3, GUCA1A, RIMS1, CERKL, RGS9, SEMA4A, KCNV2, CABP4, CACNA2D4, ADAM9, PDE6C, CDHR1, C8orf37, CRX, GUCY2D, PROM1, RPGR, RPGRIP1, PRPH2, CNGB3, CACNA1F, ABCA4, BEST1, AIPL1 Specificity 4 % Genes 3 %
Eye Disorders: Comprehensive Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. SMOC1, RGS9BP, PLA2G5, VCAN, FRAS1, FREM2, GRIP1, ZNF423, TCTN3, B3GLCT, BMP4, VSX2, FREM1, VAX1, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1 , (...) View the complete list with 190 more genes Panel GTR000512373 complete gene list SMOC1, RGS9BP, PLA2G5, VCAN, FRAS1, FREM2, GRIP1, ZNF423, TCTN3, B3GLCT, BMP4, VSX2, FREM1, VAX1, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM237, TTC21B, SDCCAG8, WDPCP, LZTFL1, RBP4, FOXE3, CDH3, LRMDA, SLC24A5, GPR179, LRIT3, CNNM4, PDE6H, RAX2, UNC119, COL11A2, COL11A1, COL9A2, COL9A1, CIB2, OFD1, ATP13A2, MFSD8, COL4A1, KCTD7, AHI1, TMEM216, CLN5, PEX7, PPT1, MTTP, CLN8, CLN6, ROM1, RBP3, PRPF3, NR2E3, MAK, EFEMP1, FZD4, RDH5, TIMP3, MYOC, RP9, ALMS1, CLN3, TPP1, SOX2, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, CYP4V2, CYP27A1, CNGA3, GRM6, OAT, PHYH, BCOR, TIMM8A, HCCS, NYX, RP2, PRPF8, PRPF31, CA4, PITPNM3, STRA6, MYO7A, GUCA1A, EYS, RIMS1, LCA5, C1QTNF5, GRN, FSCN2, CERKL, RGS9, FLVCR1, IQCB1, TOPORS, CTSD, SEMA4A, KCNV2, SNRNP200, CABP4, GNAT1, CACNA2D4, PRCD, RD3, RDH12, ADAM9, KLHL7, TMEM126A, PDE6C, TRPM1, TSPAN12, LRAT, PCARE, IMPG2, PDE6G, CDHR1, NRL, CNGA1, FAM161A, GNAT2, RS1, CNGB1, RGR, PDE6A, GUCA1B, SLC24A1, DHDDS, MERTK, PRPF6, C8orf37, HARS, IDH3B, CDH23, WHRN, CRB1, CRX, GUCY2D, IMPDH1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, RPGRIP1, SAG, TULP1, OPA3, MFN2, PRPH2, PCDH15, NPHP4, USH2A, TRIM32, TTC8, CLRN1, CEP290, ADGRV1, MKKS, NPHP1, NPHP3, ARL6, KCNJ13, TMEM67, CNGB3, CYP1B1, OTX2, NDP, MFRP, CACNA1F, ABCA4, PITX2, ELOVL4, FOXC1, CC2D2A, WFS1, OPA1, GPR143, RP1, TYR, PITX3, CHM, PAX6, WT1, SLC45A2, OCA2, COL2A1, LRP5, TYRP1, SPATA7, INVS, BEST1, USH1C, USH1G, AIPL1, ZNF513, ABHD12 Specificity 1 % Genes 5 %
Macular Dystrophy / Degeneration / Stargardt Disease: Sequencing and Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. RBP4, CDH3, EFEMP1, TIMP3, FSCN2, RDH12, GUCA1B, PROM1, RPGR, RPGRIP1, PRPH2, CNGB3, ABCA4, ELOVL4, BEST1 Specificity 7 % Genes 3 %
Retinitis Pigmentosa: Sequencing and Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. RBP4, OFD1, ROM1, RBP3, PRPF3, NR2E3, MAK, RP9, CLN3, BBS1, RP2, PRPF8, PRPF31, CA4, EYS, C1QTNF5, FSCN2, CERKL, FLVCR1, TOPORS , (...) View the complete list with 44 more genes Panel GTR000512407 complete gene list RBP4, OFD1, ROM1, RBP3, PRPF3, NR2E3, MAK, RP9, CLN3, BBS1, RP2, PRPF8, PRPF31, CA4, EYS, C1QTNF5, FSCN2, CERKL, FLVCR1, TOPORS, SEMA4A, SNRNP200, PRCD, RDH12, KLHL7, LRAT, PCARE, IMPG2, PDE6G, NRL, CNGA1, FAM161A, CNGB1, RGR, PDE6A, GUCA1B, DHDDS, MERTK, PRPF6, C8orf37, IDH3B, CRB1, CRX, GUCY2D, IMPDH1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, RPGRIP1, SAG, TULP1, PRPH2, USH2A, TTC8, CLRN1, ABCA4, RP1, SPATA7, BEST1, AIPL1, ZNF513 Specificity 4 % Genes 5 %
Achromatopsia, Cone, and Cone-rod Dystrophy: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. RGS9BP, RBP4, CNNM4, PDE6H, RAX2, UNC119, RDH5, CNGA3, PITPNM3, GUCA1A, RIMS1, CERKL, RGS9, SEMA4A, KCNV2, CABP4, CACNA2D4, ADAM9, PDE6C, CDHR1 , (...) View the complete list with 16 more genes Panel GTR000558528 complete gene list RGS9BP, RBP4, CNNM4, PDE6H, RAX2, UNC119, RDH5, CNGA3, PITPNM3, GUCA1A, RIMS1, CERKL, RGS9, SEMA4A, KCNV2, CABP4, CACNA2D4, ADAM9, PDE6C, CDHR1, GNAT2, GUCA1B, C8orf37, CRX, GUCY2D, PROM1, RPGR, RPGRIP1, PRPH2, CEP290, CNGB3, CACNA1F, ABCA4, PAX6, BEST1, AIPL1 Specificity 3 % Genes 3 %
Eye Disorders: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. SMOC1, RGS9BP, PLA2G5, VCAN, FRAS1, FREM2, GRIP1, ZNF423, TCTN3, B3GLCT, BMP4, VSX2, FREM1, VAX1, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1 , (...) View the complete list with 187 more genes Panel GTR000559618 complete gene list SMOC1, RGS9BP, PLA2G5, VCAN, FRAS1, FREM2, GRIP1, ZNF423, TCTN3, B3GLCT, BMP4, VSX2, FREM1, VAX1, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM237, TTC21B, SDCCAG8, WDPCP, LZTFL1, RBP4, FOXE3, CDH3, GPR179, LRIT3, CNNM4, PDE6H, RAX2, UNC119, COL11A2, COL11A1, COL9A2, COL9A1, CIB2, OFD1, MFSD8, COL4A1, KCTD7, AHI1, TMEM216, CLN5, PEX7, PPT1, MTTP, CLN8, CLN6, ROM1, RBP3, PRPF3, NR2E3, MAK, EFEMP1, FZD4, RDH5, TIMP3, MYOC, RP9, ALMS1, CLN3, TPP1, SOX2, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, CYP4V2, CNGA3, GRM6, OAT, PHYH, BCOR, TIMM8A, HCCS, NYX, RP2, PRPF8, PRPF31, CA4, PITPNM3, STRA6, MYO7A, GUCA1A, EYS, RIMS1, LCA5, C1QTNF5, GRN, FSCN2, CERKL, RGS9, FLVCR1, IQCB1, TOPORS, CTSD, SEMA4A, KCNV2, SNRNP200, CABP4, GNAT1, CACNA2D4, PRCD, RD3, RDH12, ADAM9, KLHL7, TMEM126A, PDE6C, TRPM1, TSPAN12, LRAT, PCARE, IMPG2, PDE6G, CDHR1, NRL, CNGA1, FAM161A, GNAT2, RS1, CNGB1, RGR, PDE6A, GUCA1B, SLC24A1, DHDDS, MERTK, PRPF6, C8orf37, HARS, IDH3B, CDH23, WHRN, CRB1, CRX, GUCY2D, IMPDH1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, RPGRIP1, SAG, TULP1, OPA3, MFN2, PRPH2, PCDH15, NPHP4, USH2A, TRIM32, TTC8, CLRN1, CEP290, ADGRV1, MKKS, NPHP1, NPHP3, ARL6, KCNJ13, TMEM67, CNGB3, CYP1B1, OTX2, NDP, MFRP, CACNA1F, ABCA4, PITX2, ELOVL4, FOXC1, CC2D2A, WFS1, OPA1, GPR143, RP1, PDZD7, TYR, PITX3, CHM, PAX6, WT1, SLC45A2, OCA2, COL2A1, LRP5, TYRP1, SPATA7, INVS, BEST1, USH1C, USH1G, AIPL1, ZNF513, ABHD12 Specificity 1 % Genes 5 %
Ciliopathies NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. HYLS1, NEK1, DYNC2H1, B9D2, EVC2, EVC, ARL13B, GLIS2, IFT80, IFT43, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TTC21B, ZIC3, B9D1, SDCCAG8, WDPCP , (...) View the complete list with 75 more genes Panel GTR000505731 complete gene list HYLS1, NEK1, DYNC2H1, B9D2, EVC2, EVC, ARL13B, GLIS2, IFT80, IFT43, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TTC21B, ZIC3, B9D1, SDCCAG8, WDPCP, WDR19, NKX2-5, DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, NODAL, WDR35, OFD1, PKD2, UMOD, ATXN10, AHI1, TMEM216, PKHD1, CFTR, ALMS1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, MYO7A, LCA5, IQCB1, TOPORS, RD3, RDH12, LRAT, PCARE, XPNPEP3, CCDC28B, CCDC39, CDH23, WHRN, CRB1, CRX, GUCY2D, IMPDH1, RPE65, RPGR, RPGRIP1, TULP1, PCDH15, NPHP4, USH2A, TRIM32, TTC8, CLRN1, CEP290, ADGRV1, MKKS, NPHP1, NPHP3, ARL6, KCNJ13, TMEM67, CC2D2A, SPATA7, INVS, USH1C, USH1G, AIPL1, VHL Specificity 15 % Genes 35 %
Eye Disorders NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. RGS9BP, VCAN, VSX2, RPGRIP1L, RBP4, HMCN1, CDH3, CNNM4, RAX2, UNC119, COL11A1, COL9A1, TREX1, AHI1, TTPA, PEX1, PEX7, PEX2, MTTP, ROM1 , (...) View the complete list with 118 more genes Panel GTR000506412 complete gene list RGS9BP, VCAN, VSX2, RPGRIP1L, RBP4, HMCN1, CDH3, CNNM4, RAX2, UNC119, COL11A1, COL9A1, TREX1, AHI1, TTPA, PEX1, PEX7, PEX2, MTTP, ROM1, RBP3, PRPF3, NR2E3, PAX2, EFEMP1, TIMP3, MYOC, RP9, CLN3, SOX2, BBS2, BBS1, BBS4, BBS10, BBS9, BBS12, BBS5, BBS7, CYP4V2, GRM6, OAT, PHYH, BCOR, TIMM8A, RP2, PRPF8, PRPF31, CA4, PITPNM3, GUCA1A, EYS, RIMS1, LCA5, FSCN2, CERKL, RGS9, IQCB1, TOPORS, SEMA4A, KCNV2, SNRNP200, CABP4, GNAT1, CACNA2D4, PRCD, RD3, RDH12, ADAM9, KLHL7, TMEM126A, PDE6C, TRPM1, LRAT, PCARE, IMPG2, PDE6G, RP1L1, NRL, CNGA1, FAM161A, CNGB1, RGR, PDE6A, GUCA1B, MERTK, IDH3B, CDH23, WHRN, CRB1, CRX, GUCY2D, IMPDH1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, RPGRIP1, SAG, TULP1, OPA3, PANK2, PRPH2, PCDH15, NPHP4, TRIM32, CEP290, MKKS, NPHP1, NPHP3, KCNJ13, CNGB3, CYP1B1, OTX2, NDP, MFRP, CACNA1F, JAG1, ABCA4, PITX2, ELOVL4, FOXC1, CC2D2A, WFS1, OPA1, OPTN, RP1, RB1, CHM, PAX6, COL2A1, SPATA7, INVS, BEST1, USH1C, AIPL1, ZNF513 Specificity 1 % Genes 3 %
Macular Degeneration NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. CX3CR1, CST3, C2, C3, CFH, CFI, CFB, ERCC6, HMCN1, RAX2, HTRA1, EFEMP1, RLBP1, RPGR, PRPH2, CNGB3, ABCA4, ELOVL4, TLR4, FBLN5 Specificity 5 % Genes 3 %
X-chromosome High Resolution microarray analysis. By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center in United States. SERPINA7, SAT1, SLC6A14, TBX22, COX7B, CHRDL1, VMA21, TRAPPC2, AMELX, CFP, POLA1, STS, ATP2B3, CLCN5, IGSF1, ZNF674, MAMLD1, ARSE, CCNQ, EDA , (...) View the complete list with 140 more genes Panel GTR000507942 complete gene list SERPINA7, SAT1, SLC6A14, TBX22, COX7B, CHRDL1, VMA21, TRAPPC2, AMELX, CFP, POLA1, STS, ATP2B3, CLCN5, IGSF1, ZNF674, MAMLD1, ARSE, CCNQ, EDA, XK, XIAP, ZIC3, F8, F9, EFNB1, SH2D1A, PGK1, CSF2RA, KDM6A, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SOX3, SLC16A2, TAF1, CLIC2, BRWD3, ZDHHC9, RAB40AL, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, ZC4H2, UPF3B, UBE2A, TSPAN7, EBP, DLG3, DKC1, FANCB, ZNF41, ZNF711, MAGT1, LAMP2, MBTPS2, AFF2, AGTR2, HCFC1, IGBP1, PHF8, GATA1, NLGN3, NLGN4X, AP1S2, MED12, MID1, SMPX, PRPS1, RAB39B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, ATRX, SMS, OFD1, PIGA, WDR45, SRPX2, FLNA, PQBP1, DCX, ALG13, SLC35A2, EMD, MTM1, UBQLN2, FHL1, L1CAM, COL4A5, AVPR2, ANOS1, SHOX, NR0B1, UBA1, GJB1, BTK, WAS, CYBB, G6PD, HDAC8, SRY, POU3F4, PORCN, PLP1, PCDH19, IKBKG, IDS, GLA, DMD, CDKL5, ARX, AR, IL2RG, SLC6A8, TMLHE, ABCD1, BCOR, SLC9A6, AMER1, ACSL4, PHKA1, MAOA, AIFM1, ABCB7, TAZ, TIMM8A, GK, PDHA1, HCCS, OTC, RP2, PHKA2, RS1, MECP2, RPGR, ALAS2, NHS, HPRT1, NDP, CACNA1F, OCRL, HSD17B10, GPR143, CHM, OPN1MW, ATP7A Specificity 2 % Genes 5 %
Retinal Dystrophy Panel. By Blueprint Genetics in Finland. ARMC9, REEP6, IFT81, PRDM13, CAPN5, HMX1, ADAMTS18, RDH11, TUB, PCYT1A, RGS9BP, PLA2G5, ATOH7, VCAN, PEX11B, CEP78, SAMD11, ARHGEF18, CWC27, RTN4IP1 , (...) View the complete list with 240 more genes Panel GTR000552782 complete gene list ARMC9, REEP6, IFT81, PRDM13, CAPN5, HMX1, ADAMTS18, RDH11, TUB, PCYT1A, RGS9BP, PLA2G5, ATOH7, VCAN, PEX11B, CEP78, SAMD11, ARHGEF18, CWC27, RTN4IP1, COL18A1, LRP2, ZNF423, CEP164, CSPP1, PDE6D, TMEM107, CEP104, IFT172, TCTN3, SLC25A46, B9D2, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, CTC1, KIF11, SDCCAG8, WDPCP, BBIP1, LZTFL1, ADIPOR1, ARL2BP, NEK2, SLC7A14, KIZ, PRPF4, WDR19, ZNF408, EMC1, AGBL5, RBP4, SPP2, DHX38, CDH3, IMPG1, DRAM2, CTNNA1, IFT140, DTHD1, GPR179, LRIT3, GNB3, CNNM4, PDE6H, RAX2, RAB28, TTLL5, POC1B, ATF6, CFAP410, GNPTG, MVK, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, CTNNB1, TMEM231, PEX6, PRPS1, COL11A1, COL9A2, COL9A3, COL9A1, CIB2, VPS13B, TREX1, OFD1, NR2F1, MFSD8, PNPLA6, AHI1, TMEM216, TTPA, PEX1, PEX7, PEX2, MTTP, NMNAT1, ROM1, RBP3, PRPF3, NR2E3, MAK, TEAD1, PAX2, EFEMP1, FZD4, RDH5, TIMP3, ALMS1, CLN3, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, CYP4V2, CNGA3, HK1, HGSNAT, GRM6, OAT, PHYH, TIMM8A, NYX, FRMD7, RP2, PRPF8, PRPF31, CA4, PITPNM3, MYO7A, GUCA1A, EYS, RIMS1, LCA5, CISD2, C1QTNF5, CERKL, RGS9, FLVCR1, IQCB1, TOPORS, SEMA4A, KCNV2, SNRNP200, CABP4, GNAT1, CACNA2D4, PRCD, RD3, RDH12, ADAM9, KLHL7, TMEM126A, PDE6C, TRPM1, TSPAN12, LRAT, PCARE, IMPG2, PDE6G, RP1L1, CDHR1, NRL, CNGA1, FAM161A, GNAT2, RS1, CNGB1, RGR, PDE6A, SLC24A1, DHDDS, MERTK, PRPF6, C8orf37, HARS, IDH3B, ACO2, CDH23, WHRN, CRB1, CRX, GUCY2D, IMPDH1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, RPGRIP1, SAG, TULP1, OPA3, PANK2, MFN2, PRPH2, PCDH15, NPHP4, USH2A, TRIM32, TTC8, CLRN1, CEP290, ADGRV1, MKKS, KIAA0586, NPHP1, NPHP3, ARL6, KCNJ13, TMEM67, CNGB3, OTX2, NDP, MFRP, CACNA1F, JAG1, ABCA4, ELOVL4, CC2D2A, WFS1, OPA1, INPP5E, RP1, PDZD7, CHM, PRKCG, COL2A1, LRP5, MMACHC, SPATA7, INVS, BEST1, USH1C, USH1G, AIPL1, ZNF513, ABHD12 Specificity 1 % Genes 5 %
Macular Dystrophy Panel. By Blueprint Genetics in Finland. PRDM13, CDH3, IMPG1, DRAM2, CTNNA1, RAX2, MFSD8, EFEMP1, RDH5, TIMP3, C1QTNF5, CERKL, RDH12, IMPG2, RP1L1, RS1, CRB1, CRX, PROM1, RLBP1 , (...) View the complete list with 6 more genes Panel GTR000552824 complete gene list PRDM13, CDH3, IMPG1, DRAM2, CTNNA1, RAX2, MFSD8, EFEMP1, RDH5, TIMP3, C1QTNF5, CERKL, RDH12, IMPG2, RP1L1, RS1, CRB1, CRX, PROM1, RLBP1, RPGR, PRPH2, CNGB3, ABCA4, ELOVL4, BEST1 Specificity 4 % Genes 3 %
Cone Rod Dystrophy Panel. By Blueprint Genetics in Finland. ADAMTS18, RGS9BP, CEP78, ARHGEF18, CNNM4, PDE6H, RAX2, RAB28, TTLL5, POC1B, CFAP410, RDH5, CLN3, CYP4V2, CNGA3, PITPNM3, GUCA1A, RIMS1, CERKL, RGS9 , (...) View the complete list with 22 more genes Panel GTR000552737 complete gene list ADAMTS18, RGS9BP, CEP78, ARHGEF18, CNNM4, PDE6H, RAX2, RAB28, TTLL5, POC1B, CFAP410, RDH5, CLN3, CYP4V2, CNGA3, PITPNM3, GUCA1A, RIMS1, CERKL, RGS9, SEMA4A, KCNV2, CABP4, CACNA2D4, ADAM9, PDE6C, CDHR1, GNAT2, MERTK, C8orf37, CRB1, CRX, GUCY2D, PROM1, RPGR, RPGRIP1, PRPH2, CNGB3, CACNA1F, ABCA4, BEST1, AIPL1 Specificity 3 % Genes 3 %
Retinitis Pigmentosa Panel. By Blueprint Genetics in Finland. REEP6, TUB, PLA2G5, SAMD11, ARHGEF18, CWC27, ADIPOR1, ARL2BP, NEK2, SLC7A14, KIZ, PRPF4, WDR19, ZNF408, AGBL5, RBP4, SPP2, DHX38, CTNNA1, IFT140 , (...) View the complete list with 90 more genes Panel GTR000552739 complete gene list REEP6, TUB, PLA2G5, SAMD11, ARHGEF18, CWC27, ADIPOR1, ARL2BP, NEK2, SLC7A14, KIZ, PRPF4, WDR19, ZNF408, AGBL5, RBP4, SPP2, DHX38, CTNNA1, IFT140, CFAP410, GNPTG, MVK, VPS13B, OFD1, AHI1, TTPA, PEX1, PEX7, PEX2, NMNAT1, ROM1, RBP3, PRPF3, NR2E3, MAK, RDH5, CLN3, BBS2, BBS1, CYP4V2, HK1, HGSNAT, OAT, PHYH, RP2, PRPF8, PRPF31, CA4, PITPNM3, EYS, RIMS1, LCA5, C1QTNF5, CERKL, FLVCR1, TOPORS, SEMA4A, SNRNP200, PRCD, RDH12, KLHL7, LRAT, PCARE, IMPG2, PDE6G, CDHR1, NRL, CNGA1, FAM161A, RS1, CNGB1, RGR, PDE6A, DHDDS, MERTK, PRPF6, C8orf37, IDH3B, CRB1, CRX, GUCY2D, IMPDH1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, RPGRIP1, SAG, TULP1, PRPH2, USH2A, TTC8, CLRN1, CEP290, ARL6, MFRP, ABCA4, INPP5E, RP1, CHM, PRKCG, SPATA7, BEST1, USH1C, AIPL1, ZNF513, ABHD12 Specificity 2 % Genes 5 %
X-linked Retinitis pigmentosa. By Bioarray in Spain. RPGR Specificity 100 % Genes 3 %
RETINITIS PIGMENTOSA (X-LINKED). By Laboratorio de Genetica Clinica SL in Spain. RP2, RPGR Specificity 50 % Genes 3 %
Retinitis Pigmentosa, Sequencing RPGR Gene. By Reference Laboratory Genetics in Spain. RPGR Specificity 100 % Genes 3 %
Autosomal Recessive and Sporadic Retinitis Pigmentosa, Panel Massive Sequencing (NGS) 41 Genes. By Reference Laboratory Genetics in Spain. GNPTG, RBP3, NR2E3, MAK, BBS1, RP2, EYS, CERKL, FLVCR1, PRCD, RDH12, LRAT, PCARE, IMPG2, PDE6G, NRL, CNGA1, FAM161A, CNGB1, RGR , (...) View the complete list with 21 more genes Panel GTR000559529 complete gene list GNPTG, RBP3, NR2E3, MAK, BBS1, RP2, EYS, CERKL, FLVCR1, PRCD, RDH12, LRAT, PCARE, IMPG2, PDE6G, NRL, CNGA1, FAM161A, CNGB1, RGR, PDE6A, DHDDS, MERTK, C8orf37, IDH3B, CRB1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, SAG, TULP1, USH2A, TTC8, ABCA4, RP1, SPATA7, BEST1, ZNF513 Specificity 3 % Genes 3 %
RPGR Comprehensive - Sequence & Deletion/Duplication Analysis. By Baylor Miraca Genetics Laboratories in United States. RPGR Specificity 100 % Genes 3 %
RPGR Sequence Analysis (Prenatal Diagnosis). By Baylor Miraca Genetics Laboratories in United States. RPGR Specificity 100 % Genes 3 %
RPGR Deletion/Duplication Analysis. By Baylor Miraca Genetics Laboratories in United States. RPGR Specificity 100 % Genes 3 %
Macular Degeneration Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. CHST6, HMCN1, CDH3, IMPG1, DRAM2, CTNNA1, RAX2, MFSD8, EFEMP1, TIMP3, C1QTNF5, FSCN2, IMPG2, RP1L1, GUCA1B, PROM1, RPGR, PRPH2, CNGB3, OTX2 , (...) View the complete list with 4 more genes Panel GTR000558969 complete gene list CHST6, HMCN1, CDH3, IMPG1, DRAM2, CTNNA1, RAX2, MFSD8, EFEMP1, TIMP3, C1QTNF5, FSCN2, IMPG2, RP1L1, GUCA1B, PROM1, RPGR, PRPH2, CNGB3, OTX2, ABCA4, ELOVL4, FBLN5, BEST1 Specificity 5 % Genes 3 %
Comprehensive Pulmonary Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. SFTPA1, SFTPA2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, SFTPC, ABCA3, NKX2-1, DNAH11, KCNA5, DNAI2, DNAAF2, RSPH4A, RSPH9, LTBP4, DNAAF1, MUC5B, CCDC40 , (...) View the complete list with 73 more genes Panel GTR000556317 complete gene list SFTPA1, SFTPA2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, SFTPC, ABCA3, NKX2-1, DNAH11, KCNA5, DNAI2, DNAAF2, RSPH4A, RSPH9, LTBP4, DNAAF1, MUC5B, CCDC40, DNAL1, CSF2RB, EFEMP2, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, CSF2RA, DRC1, SMAD9, CAV1, KCNK3, ZMYND10, ARMC4, RSPH1, DNAAF4, CFAP298, CCDC65, SPAG1, GDF2, DOCK8, CCNO, CCDC151, CENPF, PARN, RSPH3, GAS8, DNAJB13, TTC25, SFTPD, TERT, MCIDAS, DNAH1, ELMOD2, DNAH8, BMPR1B, ACVRL1, TERC, BLOC1S6, DKC1, EDN3, OFD1, SCNN1B, SCNN1G, SCNN1A, RTEL1, SLC7A7, SERPINA1, ENG, SMAD4, FLCN, PHOX2B, TSC1, TSC2, TINF2, FOXF1, CFTR, STAT3, ALMS1, AP3B1, CCDC39, HPS3, HPS4, HPS5, HPS6, BLOC1S3, HPS1, RPGR, DTNBP1, ELN, FBLN5, INVS Specificity 39 % Genes 90 %
Retinitis Pigmentosa Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. ARL2BP, NEK2, SLC7A14, KIZ, PRPF4, WDR19, ZNF408, EMC1, AGBL5, RBP4, ARL3, SPP2, DHX38, IFT140, MVK, OFD1, POMGNT1, ROM1, PRPF3, NR2E3 , (...) View the complete list with 72 more genes Panel GTR000556332 complete gene list ARL2BP, NEK2, SLC7A14, KIZ, PRPF4, WDR19, ZNF408, EMC1, AGBL5, RBP4, ARL3, SPP2, DHX38, IFT140, MVK, OFD1, POMGNT1, ROM1, PRPF3, NR2E3, MAK, RP9, CLN3, BBS2, BBS1, CYP4V2, HK1, RP2, PRPF8, PRPF31, CA4, EYS, LCA5, C1QTNF5, FSCN2, CERKL, FLVCR1, TOPORS, SEMA4A, SNRNP200, PRCD, RD3, RDH12, KLHL7, LRAT, PCARE, IMPG2, PDE6G, RP1L1, CDHR1, NRL, CNGA1, FAM161A, CNGB1, RGR, PDE6A, GUCA1B, DHDDS, MERTK, PRPF6, C8orf37, IDH3B, CRB1, CRX, GUCY2D, IMPDH1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, RPGRIP1, SAG, TULP1, PRPH2, USH2A, TTC8, CLRN1, CEP290, ARL6, MFRP, ABCA4, RP1, CHM, PRKCG, SPATA7, NEUROD1, BEST1, AIPL1, ZNF513, ABHD12 Specificity 3 % Genes 5 %
RPGR. By Institute for Human Genetics University Clinic Freiburg in Germany. RPGR Specificity 100 % Genes 3 %
PCDNext. By Ambry Genetics in United States. DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, ARMC4, SPAG1, OFD1, CFTR, CCDC39 , (...) View the complete list with 1 more genes Panel GTR000560619 complete gene list DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, ARMC4, SPAG1, OFD1, CFTR, CCDC39, RPGR Specificity 96 % Genes 50 %
RPGR mutation analysis. By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands. RPGR Specificity 100 % Genes 3 %
RPGR. Sequencing of the exon ORF15. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. RPGR Specificity 100 % Genes 3 %
Primary Ciliary Dyskinesia Seq Analysis. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. HYDIN, DNAH6, DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, DRC1, ZMYND10 , (...) View the complete list with 17 more genes Panel GTR000553475 complete gene list HYDIN, DNAH6, DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, DRC1, ZMYND10, ARMC4, RSPH1, DNAAF4, CCDC65, SPAG1, CCNO, CCDC151, RSPH3, GAS8, MCIDAS, DNAH1, DNAH8, OFD1, CFTR, CCDC39, RPGR, INVS Specificity 92 % Genes 85 %
Comprehensive Pulmonary-Vascular Seq Analysis. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. HYDIN, DNAH6, COPA, EIF2AK4, NOTCH2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, ABCA3, NKX2-1, DNAH11, KCNA5, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40 , (...) View the complete list with 45 more genes Panel GTR000553478 complete gene list HYDIN, DNAH6, COPA, EIF2AK4, NOTCH2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, ABCA3, NKX2-1, DNAH11, KCNA5, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, CSF2RB, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, CSF2RA, DRC1, SMAD9, CAV1, KCNK3, ZMYND10, ARMC4, RSPH1, DNAAF4, CCDC65, SPAG1, GDF2, CCNO, CCDC151, RSPH3, GAS8, TERT, MCIDAS, DNAH1, DNAH8, BMPR1B, ACVRL1, TERC, MARS, DKC1, RASA1, OFD1, FLNA, SLC7A7, ENG, GATA2, SMAD4, FOXF1, CFTR, CCDC39, RPGR, JAG1, INVS Specificity 53 % Genes 85 %
Cone-rod dystrophy (NGS panel of 36 genes). By CGC Genetics in Portugal. PCYT1A, RGS9BP, CNNM4, PDE6H, RAX2, RAB28, TTLL5, POC1B, UNC119, RDH5, CNGA3, PITPNM3, GUCA1A, RIMS1, CERKL, RGS9, SEMA4A, KCNV2, CABP4, CACNA2D4 , (...) View the complete list with 16 more genes Panel GTR000523264 complete gene list PCYT1A, RGS9BP, CNNM4, PDE6H, RAX2, RAB28, TTLL5, POC1B, UNC119, RDH5, CNGA3, PITPNM3, GUCA1A, RIMS1, CERKL, RGS9, SEMA4A, KCNV2, CABP4, CACNA2D4, ADAM9, PDE6C, CDHR1, GNAT2, C8orf37, CRX, GUCY2D, PROM1, RPGR, RPGRIP1, PRPH2, CNGB3, CACNA1F, ABCA4, BEST1, AIPL1 Specificity 3 % Genes 3 %
Stargardt disease and macular distrophy (NGS panel for 14 genes). By CGC Genetics in Portugal. CDH3, IMPG1, TIMP3, C1QTNF5, FSCN2, RDH12, RP1L1, PROM1, RPGR, PRPH2, CNGB3, ABCA4, ELOVL4, BEST1 Specificity 8 % Genes 3 %
Primary Ciliary Dyskinesia (PCD) via the RPGR Gene. By PreventionGenetics PreventionGenetics in United States. RPGR Specificity 100 % Genes 3 %
Stargardt Disease (STGD) and Macular Dystrophies Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. CDH3, RBP3, EFEMP1, TIMP3, C1QTNF5, FSCN2, CERKL, RDH12, IMPG2, RP1L1, RS1, GUCA1B, CRB1, PROM1, RLBP1, RPGR, RPGRIP1, PRPH2, CNGB3, ABCA4 , (...) View the complete list with 2 more genes Panel GTR000531411 complete gene list CDH3, RBP3, EFEMP1, TIMP3, C1QTNF5, FSCN2, CERKL, RDH12, IMPG2, RP1L1, RS1, GUCA1B, CRB1, PROM1, RLBP1, RPGR, RPGRIP1, PRPH2, CNGB3, ABCA4, ELOVL4, BEST1 Specificity 5 % Genes 3 %
Cone-Rod Dystrophy Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. RGS9BP, DRAM2, CNNM4, PDE6H, RAX2, RAB28, TTLL5, POC1B, CFAP410, UNC119, RDH5, PITPNM3, GUCA1A, RIMS1, CERKL, RGS9, SEMA4A, KCNV2, CABP4, CACNA2D4 , (...) View the complete list with 15 more genes Panel GTR000509893 complete gene list RGS9BP, DRAM2, CNNM4, PDE6H, RAX2, RAB28, TTLL5, POC1B, CFAP410, UNC119, RDH5, PITPNM3, GUCA1A, RIMS1, CERKL, RGS9, SEMA4A, KCNV2, CABP4, CACNA2D4, ADAM9, PDE6C, CDHR1, C8orf37, CRX, GUCY2D, PROM1, RPGR, RPGRIP1, PRPH2, CNGB3, CACNA1F, ABCA4, BEST1, AIPL1 Specificity 3 % Genes 3 %
Primary Ciliary Dyskinesia (PCD)/Immotile Cilia Syndrome Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. PIH1D3, AK7, DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, DRC1, ZMYND10 , (...) View the complete list with 19 more genes Panel GTR000552103 complete gene list PIH1D3, AK7, DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, DRC1, ZMYND10, ARMC4, RSPH1, DNAAF4, CFAP298, CCDC65, SPAG1, CCNO, CCDC151, RSPH3, GAS8, DNAJB13, TTC25, MCIDAS, DNAH1, DNAH8, OFD1, CCDC39, RPGR, INVS Specificity 95 % Genes 93 %
Specialized Testing of the Mutational Hotspot RPGR (isoform C) ORF15 Region. By PreventionGenetics PreventionGenetics in United States. RPGR Specificity 100 % Genes 3 %
Retinitis pigmentosa type 3 X-linked. By Centogene AG - the Rare Disease Company in Germany. RPGR Specificity 100 % Genes 3 %
X-linked retinitis pigmentosa. By Genomic Diagnostics Laboratory Central Manchester NHS Foundation Trust in United Kingdom. RPGR Specificity 100 % Genes 3 %
Retinitis pigmentosa, autosomal dominant and X-linked Panel. By CeGaT GmbH in Germany. PRPF4, ARL3, SPP2, ROM1, PRPF3, NR2E3, RP9, HK1, RP2, PRPF8, PRPF31, CA4, FSCN2, TOPORS, SEMA4A, SNRNP200, RDH12, KLHL7, NRL, RGR , (...) View the complete list with 10 more genes Panel GTR000522413 complete gene list PRPF4, ARL3, SPP2, ROM1, PRPF3, NR2E3, RP9, HK1, RP2, PRPF8, PRPF31, CA4, FSCN2, TOPORS, SEMA4A, SNRNP200, RDH12, KLHL7, NRL, RGR, GUCA1B, PRPF6, CRX, IMPDH1, RHO, RPE65, RPGR, PRPH2, RP1, BEST1 Specificity 4 % Genes 3 %
Retinitis pigmentosa, autosomal recessive and X-linked Panel. By CeGaT GmbH in Germany. RDH11, TUB, KIAA1549, ADGRA3, IFT172, ARL2BP, NEK2, SLC7A14, KIZ, ZNF408, EMC1, RBP4, DHX38, GNPTG, NMNAT1, RBP3, NR2E3, MAK, BBS2, BBS1 , (...) View the complete list with 42 more genes Panel GTR000522426 complete gene list RDH11, TUB, KIAA1549, ADGRA3, IFT172, ARL2BP, NEK2, SLC7A14, KIZ, ZNF408, EMC1, RBP4, DHX38, GNPTG, NMNAT1, RBP3, NR2E3, MAK, BBS2, BBS1, CYP4V2, HGSNAT, RP2, PRPF31, EYS, CERKL, FLVCR1, PRCD, RDH12, LRAT, PCARE, IMPG2, PDE6G, RP1L1, CDHR1, NRL, CNGA1, FAM161A, CNGB1, RGR, PDE6A, DHDDS, MERTK, C8orf37, IDH3B, CRB1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, SAG, TULP1, USH2A, TTC8, CLRN1, ABCA4, RP1, SPATA7, BEST1, ZNF513 Specificity 2 % Genes 3 %
Cone Rod Dystrophies Panel. By CeGaT GmbH in Germany. ACBD5, PCYT1A, RGS9BP, CNNM4, PDE6H, RAX2, RAB28, TTLL5, POC1B, CFAP410, RDH5, CYP4V2, CNGA3, PITPNM3, GUCA1A, RIMS1, CERKL, RGS9, SEMA4A, KCNV2 , (...) View the complete list with 20 more genes Panel GTR000522433 complete gene list ACBD5, PCYT1A, RGS9BP, CNNM4, PDE6H, RAX2, RAB28, TTLL5, POC1B, CFAP410, RDH5, CYP4V2, CNGA3, PITPNM3, GUCA1A, RIMS1, CERKL, RGS9, SEMA4A, KCNV2, CABP4, CACNA2D4, ADAM9, PDE6C, PCARE, CDHR1, GNAT2, C8orf37, CRB1, CRX, GUCY2D, PROM1, RPGR, RPGRIP1, PRPH2, CEP290, CNGB3, CACNA1F, ABCA4, AIPL1 Specificity 3 % Genes 3 %
Stargardt Disease and Macular Dystrophies Panel. By CeGaT GmbH in Germany. CDH3, IMPG1, DRAM2, CTNNA1, TTLL5, MFSD8, TIMP3, CLN3, C1QTNF5, FSCN2, RDH12, IMPG2, RP1L1, CRB1, CRX, PROM1, RPGR, PRPH2, CNGB3, ABCA4 , (...) View the complete list with 2 more genes Panel GTR000522487 complete gene list CDH3, IMPG1, DRAM2, CTNNA1, TTLL5, MFSD8, TIMP3, CLN3, C1QTNF5, FSCN2, RDH12, IMPG2, RP1L1, CRB1, CRX, PROM1, RPGR, PRPH2, CNGB3, ABCA4, ELOVL4, BEST1 Specificity 5 % Genes 3 %
Single gene testing RPGR. By CeGaT GmbH in Germany. RPGR Specificity 100 % Genes 3 %
Autosomal Recessive Retinitis Pigmentosa. By Asper Biogene Asper Biogene LLC in Estonia. ROM1, RBP3, PRPF3, NR2E3, MAK, RP9, CNGA3, RP2, PRPF8, PRPF31, CA4, EYS, FSCN2, CERKL, TOPORS, SEMA4A, PRCD, RDH12, LRAT, GRK1 , (...) View the complete list with 36 more genes Panel GTR000507298 complete gene list ROM1, RBP3, PRPF3, NR2E3, MAK, RP9, CNGA3, RP2, PRPF8, PRPF31, CA4, EYS, FSCN2, CERKL, TOPORS, SEMA4A, PRCD, RDH12, LRAT, GRK1, PCARE, IMPG2, PDE6G, NRL, CNGA1, FAM161A, CNGB1, RGR, PDE6A, GUCA1B, DHDDS, MERTK, PRPF6, C8orf37, IDH3B, CRB1, CRX, IMPDH1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, SAG, TULP1, USH2A, TTC8, CLRN1, ARL6, CNGB3, ABCA4, RP1, BEST1, AIPL1, ZNF513 Specificity 2 % Genes 3 %
X-Linked RP Panel. By Molecular Vision Laboratory in United States. OFD1, RP2, RS1, RPGR, CHM Specificity 40 % Genes 5 %
VECMD. By VECMD VECMD in Mexico. RPGR Specificity 100 % Genes 3 %
RPGR. By Division Human Genetics Medical University Innsbruck in Austria. RPGR Specificity 100 % Genes 3 %
Invitae Primary Ciliary Dyskinesia Panel. By Invitae in United States. DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, DRC1, ZMYND10, ARMC4, RSPH1 , (...) View the complete list with 14 more genes Panel GTR000514953 complete gene list DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, DRC1, ZMYND10, ARMC4, RSPH1, DNAAF4, CFAP298, CCDC65, SPAG1, CCNO, CCDC151, RSPH3, GAS8, MCIDAS, DNAH1, DNAH8, OFD1, CCDC39, RPGR Specificity 100 % Genes 85 %
Invitae Ciliopathies Panel. By Invitae in United States. WDR34, WDR60, NEK1, DYNC2H1, ANKS6, CEP83, ZNF423, CEP164, CSPP1, PDE6D, CEP120, CEP104, IFT172, TCTN3, B9D2, IFT122, EVC2, EVC, ARL13B, GLIS2 , (...) View the complete list with 82 more genes Panel GTR000514989 complete gene list WDR34, WDR60, NEK1, DYNC2H1, ANKS6, CEP83, ZNF423, CEP164, CSPP1, PDE6D, CEP120, CEP104, IFT172, TCTN3, B9D2, IFT122, EVC2, EVC, ARL13B, GLIS2, IFT80, CPLANE1, CEP41, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, SDCCAG8, WDPCP, WDR19, DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, DRC1, ZMYND10, ARMC4, RSPH1, DNAAF4, CFAP298, CCDC65, SPAG1, CCNO, CCDC151, RSPH3, GAS8, MCIDAS, DNAH1, DNAH8, IFT140, WDR35, KIAA0586, TMEM231, DCDC2, OFD1, PKD2, AHI1, TMEM216, PKHD1, MRE11, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, IQCB1, XPNPEP3, CCDC39, RPGR, NPHP4, TRIM32, TTC8, CEP290, MKKS, NPHP1, NPHP3, ARL6, TMEM67, CC2D2A, INPP5E, INVS Specificity 34 % Genes 85 %
Cone-Rod dystrophy type 1: RPGR gene sequence analysis (exons 1-15 and ORF15). By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. RPGR Specificity 100 % Genes 3 %
RETINITIS PIGMENTOSA A.R.. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. GNPTG, RBP3, NR2E3, MAK, BBS1, RP2, EYS, CERKL, FLVCR1, PRCD, RDH12, LRAT, PCARE, IMPG2, PDE6G, NRL, CNGA1, FAM161A, CNGB1, RGR , (...) View the complete list with 21 more genes Panel GTR000531444 complete gene list GNPTG, RBP3, NR2E3, MAK, BBS1, RP2, EYS, CERKL, FLVCR1, PRCD, RDH12, LRAT, PCARE, IMPG2, PDE6G, NRL, CNGA1, FAM161A, CNGB1, RGR, PDE6A, DHDDS, MERTK, C8orf37, IDH3B, CRB1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, SAG, TULP1, USH2A, TTC8, ABCA4, RP1, SPATA7, BEST1, ZNF513 Specificity 3 % Genes 3 %
STARGARDT SYNDROME. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. CDH3, TIMP3, C1QTNF5, FSCN2, RDH12, RP1L1, PROM1, RPGR, PRPH2, CNGB3, ABCA4, ELOVL4, BEST1 Specificity 8 % Genes 3 %
RETINITIS PIGMENTOSA A.D. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. ROM1, PRPF3, NR2E3, RP9, RP2, PRPF8, PRPF31, CA4, FSCN2, TOPORS, SEMA4A, SNRNP200, RDH12, KLHL7, NRL, RGR, GUCA1B, PRPF6, CRX, IMPDH1 , (...) View the complete list with 7 more genes Panel GTR000531491 complete gene list ROM1, PRPF3, NR2E3, RP9, RP2, PRPF8, PRPF31, CA4, FSCN2, TOPORS, SEMA4A, SNRNP200, RDH12, KLHL7, NRL, RGR, GUCA1B, PRPF6, CRX, IMPDH1, RHO, RPE65, RPGR, PRPH2, ABCA4, RP1, BEST1 Specificity 4 % Genes 3 %
RPGR-Related X-Linked Retinitis Pigmentosa: RPGR Full Gene Sequencing. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. RPGR Specificity 100 % Genes 3 %
RPGR-Related X-Linked Retinitis Pigmentosa: RPGR Gene Deletion/Duplication. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. RPGR Specificity 100 % Genes 3 %
Achromatopsia, Cone, and Cone-rod Dystrophy: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. RGS9BP, RBP4, CNNM4, PDE6H, RAX2, UNC119, RDH5, CNGA3, PITPNM3, GUCA1A, RIMS1, CERKL, RGS9, SEMA4A, KCNV2, CABP4, CACNA2D4, ADAM9, PDE6C, CDHR1 , (...) View the complete list with 16 more genes Panel GTR000512362 complete gene list RGS9BP, RBP4, CNNM4, PDE6H, RAX2, UNC119, RDH5, CNGA3, PITPNM3, GUCA1A, RIMS1, CERKL, RGS9, SEMA4A, KCNV2, CABP4, CACNA2D4, ADAM9, PDE6C, CDHR1, GNAT2, GUCA1B, C8orf37, CRX, GUCY2D, PROM1, RPGR, RPGRIP1, PRPH2, CEP290, CNGB3, CACNA1F, ABCA4, PAX6, BEST1, AIPL1 Specificity 3 % Genes 3 %
Ciliopathies: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. HYLS1, NEK1, DYNC2H1, ZNF423, CEP164, B9D2, ACVR2B, CRELD1, LEFTY2, EVC2, EVC, ARL13B, GLIS2, IFT80, CPLANE1, CEP41, GDF1, IFT43, KIF7, NEK8 , (...) View the complete list with 92 more genes Panel GTR000512415 complete gene list HYLS1, NEK1, DYNC2H1, ZNF423, CEP164, B9D2, ACVR2B, CRELD1, LEFTY2, EVC2, EVC, ARL13B, GLIS2, IFT80, CPLANE1, CEP41, GDF1, IFT43, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, ZIC3, B9D1, SDCCAG8, WDPCP, WDR19, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, FOXH1, NODAL, WDR35, TMEM231, OFD1, PKD2, SCNN1B, SCNN1G, SCNN1A, UMOD, ATXN10, AHI1, TMEM216, PKHD1, TSC1, TSC2, CFTR, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, MYO7A, LCA5, IQCB1, TOPORS, RD3, RDH12, LRAT, PCARE, XPNPEP3, CCDC28B, CCDC39, CDH23, WHRN, CRB1, CRX, GUCY2D, IMPDH1, RPE65, RPGR, RPGRIP1, TULP1, PCDH15, NPHP4, USH2A, TRIM32, TTC8, CLRN1, CEP290, ADGRV1, MKKS, NPHP1, NPHP3, ARL6, KCNJ13, TMEM67, CC2D2A, SPATA7, INVS, USH1C, USH1G, NKX2-5, DNAI1, DNAH5, NME8, DNAH11, DNAI2, AIPL1, VHL Specificity 14 % Genes 38 %
Retina/Photoreceptor Dystrophy: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. C8orf37-AS1, RGS9BP, PLA2G5, VCAN, CDH15, RBP4, GPR179, LRIT3, CNNM4, PDE6H, RAX2, UNC119, COL11A2, COL11A1, COL9A2, COL9A1, OFD1, ROM1, RBP3, PRPF3 , (...) View the complete list with 100 more genes Panel GTR000523294 complete gene list C8orf37-AS1, RGS9BP, PLA2G5, VCAN, CDH15, RBP4, GPR179, LRIT3, CNNM4, PDE6H, RAX2, UNC119, COL11A2, COL11A1, COL9A2, COL9A1, OFD1, ROM1, RBP3, PRPF3, NR2E3, MAK, EFEMP1, FZD4, RDH5, TIMP3, RP9, CLN3, CYP4V2, CNGA3, GRM6, OAT, TIMM8A, NYX, RP2, PRPF8, PRPF31, CA4, PITPNM3, GUCA1A, EYS, RIMS1, LCA5, C1QTNF5, FSCN2, CERKL, RGS9, FLVCR1, IQCB1, TOPORS, SEMA4A, KCNV2, SNRNP200, CABP4, GNAT1, CACNA2D4, PRCD, RD3, RDH12, ADAM9, KLHL7, TMEM126A, PDE6C, TRPM1, TSPAN12, LRAT, PCARE, IMPG2, PDE6G, CDHR1, NRL, CNGA1, FAM161A, GNAT2, CNGB1, RGR, PDE6A, GUCA1B, SLC24A1, DHDDS, MERTK, PRPF6, IDH3B, CRB1, CRX, GUCY2D, IMPDH1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, RPGRIP1, SAG, TULP1, OPA3, MFN2, PRPH2, USH2A, TTC8, CLRN1, CEP290, KCNJ13, CNGB3, OTX2, NDP, CACNA1F, ABCA4, ELOVL4, OPA1, RP1, CHM, PAX6, COL2A1, LRP5, SPATA7, BEST1, AIPL1, ZNF513 Specificity 2 % Genes 5 %
Ciliopathies: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. HYLS1, NEK1, DYNC2H1, B9D2, EVC2, EVC, ARL13B, GLIS2, IFT80, IFT43, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TTC21B, ZIC3, B9D1, SDCCAG8, WDPCP , (...) View the complete list with 76 more genes Panel GTR000558619 complete gene list HYLS1, NEK1, DYNC2H1, B9D2, EVC2, EVC, ARL13B, GLIS2, IFT80, IFT43, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TTC21B, ZIC3, B9D1, SDCCAG8, WDPCP, WDR19, DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, FOXH1, NODAL, WDR35, OFD1, PKD2, UMOD, ATXN10, AHI1, TMEM216, PKHD1, TSC1, TSC2, CFTR, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, MYO7A, LCA5, IQCB1, TOPORS, RD3, RDH12, LRAT, PCARE, XPNPEP3, CCDC28B, CCDC39, CDH23, WHRN, CRB1, CRX, GUCY2D, IMPDH1, RPE65, RPGR, RPGRIP1, TULP1, PCDH15, NPHP4, USH2A, TRIM32, TTC8, CLRN1, CEP290, ADGRV1, MKKS, NPHP1, NPHP3, ARL6, KCNJ13, TMEM67, CC2D2A, SPATA7, INVS, USH1C, USH1G, AIPL1, VHL Specificity 15 % Genes 35 %
Retinitis Pigmentosa NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. RPGRIP1L, GNPTG, PEX26, PEX1, PEX7, PEX2, ROM1, RBP3, PRPF3, NR2E3, MAK, RP9, BBS2, BBS1, BBS4, BBS10, BBS9, BBS12, BBS5, BBS7 , (...) View the complete list with 68 more genes Panel GTR000509465 complete gene list RPGRIP1L, GNPTG, PEX26, PEX1, PEX7, PEX2, ROM1, RBP3, PRPF3, NR2E3, MAK, RP9, BBS2, BBS1, BBS4, BBS10, BBS9, BBS12, BBS5, BBS7, PHYH, RP2, PRPF8, PRPF31, CA4, EYS, FSCN2, CERKL, FLVCR1, IQCB1, TOPORS, SEMA4A, SNRNP200, PRCD, RDH12, KLHL7, LRAT, PCARE, IMPG2, PDE6G, NRL, CNGA1, FAM161A, CNGB1, RGR, PDE6A, GUCA1B, DHDDS, MERTK, PRPF6, C8orf37, IDH3B, CDH23, WHRN, CRB1, CRX, GUCY2D, IMPDH1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, SAG, TULP1, PRPH2, PCDH15, NPHP4, USH2A, TRIM32, TTC8, CLRN1, CEP290, MKKS, NPHP1, NPHP3, ARL6, CACNA1F, ABCA4, WFS1, RP1, SPATA7, INVS, BEST1, USH1C, AIPL1, ZNF513 Specificity 2 % Genes 3 %
RPGR. By Fulgent Genetics Fulgent Genetics in United States. RPGR Specificity 100 % Genes 3 %
Primary Ciliary Dyskinesia Panel. By Blueprint Genetics in Finland. PIH1D3, HYDIN, DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, DRC1, ZMYND10 , (...) View the complete list with 16 more genes Panel GTR000552707 complete gene list PIH1D3, HYDIN, DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, DRC1, ZMYND10, ARMC4, RSPH1, DNAAF4, CFAP298, CCDC65, SPAG1, CCNO, CENPF, RSPH3, GAS8, DNAH1, OFD1, CFTR, CCDC39, RPGR, INVS Specificity 92 % Genes 83 %
Cone Rod Distrophy Type 1 , Sequencing RPGR Gene. By Reference Laboratory Genetics in Spain. RPGR Specificity 100 % Genes 3 %
Cone-Rod Dystrophy Type 1, Sequencing Exons (1-19) and ORF15 RPGR Gene. By Reference Laboratory Genetics in Spain. RPGR Specificity 100 % Genes 3 %
Autosomal Dominant Retinitis Pigmentosa, Panel Massive Sequencing (NGS) 27 Genes. By Reference Laboratory Genetics in Spain. ROM1, PRPF3, NR2E3, RP9, RP2, PRPF8, PRPF31, CA4, FSCN2, TOPORS, SEMA4A, SNRNP200, RDH12, KLHL7, NRL, RGR, GUCA1B, PRPF6, CRX, IMPDH1 , (...) View the complete list with 7 more genes Panel GTR000559653 complete gene list ROM1, PRPF3, NR2E3, RP9, RP2, PRPF8, PRPF31, CA4, FSCN2, TOPORS, SEMA4A, SNRNP200, RDH12, KLHL7, NRL, RGR, GUCA1B, PRPF6, CRX, IMPDH1, RHO, RPE65, RPGR, PRPH2, ABCA4, RP1, BEST1 Specificity 4 % Genes 3 %
Cone Rod Distrophy , Panel Massive Sequencing (NGS) 30 Genes. By Reference Laboratory Genetics in Spain. RGS9BP, CNNM4, PDE6H, RAX2, UNC119, RDH5, PITPNM3, GUCA1A, RIMS1, CERKL, RGS9, SEMA4A, KCNV2, CABP4, CACNA2D4, ADAM9, PDE6C, CDHR1, C8orf37, CRX , (...) View the complete list with 10 more genes Panel GTR000559773 complete gene list RGS9BP, CNNM4, PDE6H, RAX2, UNC119, RDH5, PITPNM3, GUCA1A, RIMS1, CERKL, RGS9, SEMA4A, KCNV2, CABP4, CACNA2D4, ADAM9, PDE6C, CDHR1, C8orf37, CRX, GUCY2D, PROM1, RPGR, RPGRIP1, PRPH2, CNGB3, CACNA1F, ABCA4, BEST1, AIPL1 Specificity 4 % Genes 3 %
Retinitis Pigmentosa (Complet Panel) , Panel Massive Sequencing (NGS) 57 Genes. By Reference Laboratory Genetics in Spain. GNPTG, ROM1, RBP3, PRPF3, NR2E3, MAK, RP9, BBS1, RP2, PRPF8, PRPF31, CA4, EYS, FSCN2, CERKL, FLVCR1, TOPORS, SEMA4A, SNRNP200, PRCD , (...) View the complete list with 37 more genes Panel GTR000559847 complete gene list GNPTG, ROM1, RBP3, PRPF3, NR2E3, MAK, RP9, BBS1, RP2, PRPF8, PRPF31, CA4, EYS, FSCN2, CERKL, FLVCR1, TOPORS, SEMA4A, SNRNP200, PRCD, RDH12, KLHL7, LRAT, PCARE, IMPG2, PDE6G, NRL, CNGA1, FAM161A, CNGB1, RGR, PDE6A, GUCA1B, DHDDS, MERTK, PRPF6, C8orf37, IDH3B, CRB1, CRX, IMPDH1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, SAG, TULP1, PRPH2, USH2A, TTC8, ABCA4, RP1, SPATA7, BEST1, ZNF513 Specificity 2 % Genes 3 %
Ciliopathies (NGS panel for 90 genes). By CGC Genetics in Portugal. EXOC8, HYDIN, ANKS6, CEP83, ZNF423, CEP164, CSPP1, PDE6D, TCTN3, B9D2, ARL13B, GLIS2, CPLANE1, CEP41, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TMEM138 , (...) View the complete list with 70 more genes Panel GTR000525208 complete gene list EXOC8, HYDIN, ANKS6, CEP83, ZNF423, CEP164, CSPP1, PDE6D, TCTN3, B9D2, ARL13B, GLIS2, CPLANE1, CEP41, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, PIEZO2, SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, WDR19, DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, DRC1, ZMYND10, ARMC4, RSPH1, DNAAF4, CFAP298, CCDC65, SPAG1, CCNO, NODAL, TMEM231, DCDC2, OFD1, PKD1, PKD2, AHI1, TMEM216, PKHD1, ALMS1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, IQCB1, XPNPEP3, CCDC28B, CCDC39, NPHP4, TRIM32, TTC8, CEP290, MKKS, NPHP1, NPHP3, ARL6, TMEM67, CC2D2A, INPP5E, INVS Specificity 32 % Genes 70 %
Primary ciliary dyskinesia (NGS panel for 27 genes). By CGC Genetics in Portugal. HYDIN, DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, DRC1, ZMYND10, ARMC4 , (...) View the complete list with 7 more genes Panel GTR000525278 complete gene list HYDIN, DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, DRC1, ZMYND10, ARMC4, RSPH1, DNAAF4, CFAP298, CCDC65, SPAG1, CCNO, CCDC39 Specificity 100 % Genes 68 %
Heterotaxy, Situs Inversus and Kartagener's Syndrome Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. MMP21, PIH1D3, AK7, ANKS6, CFAP53, ACVR2B, LEFTY2, GDF1, ZIC3, NKX2-5, DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, DNAAF1, CCDC40, DNAL1, DNAAF3 , (...) View the complete list with 16 more genes Panel GTR000505669 complete gene list MMP21, PIH1D3, AK7, ANKS6, CFAP53, ACVR2B, LEFTY2, GDF1, ZIC3, NKX2-5, DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, ZMYND10, ARMC4, DNAAF4, CFAP298, SPAG1, CCDC151, GAS8, TTC25, FOXH1, NODAL, CCDC39, INVS Specificity 67 % Genes 60 %
Primary ciliary dyskinesia type 10. By Centogene AG - the Rare Disease Company in Germany. DNAAF2 Specificity 100 % Genes 3 %
Comprehensive pulmonary disease panel. By Centogene AG - the Rare Disease Company in Germany. GDNF, ASCL1, BDNF, NOP10, SFTPA1, SFTPA2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, SFTPC, ABCA3, NKX2-1, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, LTBP4 , (...) View the complete list with 46 more genes Panel GTR000552605 complete gene list GDNF, ASCL1, BDNF, NOP10, SFTPA1, SFTPA2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, SFTPC, ABCA3, NKX2-1, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, LTBP4, DNAAF1, MUC5B, CCDC40, DNAL1, CSF2RB, EFEMP2, CSF2RA, SMAD9, RSPH1, DOCK8, PARN, SFTPD, TERT, ELMOD2, ACVRL1, TERC, BLOC1S6, DKC1, EDN3, SCNN1B, SCNN1G, SCNN1A, RTEL1, SERPINA1, ENG, FLCN, PHOX2B, TSC1, TSC2, TINF2, FOXF1, CFTR, STAT3, AP3B1, CCDC39, HPS3, HPS4, HPS5, HPS6, BLOC1S3, HPS1, FBN1, DTNBP1, ELN, RET, FBLN5 Specificity 20 % Genes 33 %
Bronchiectasis: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, SCNN1B, SCNN1G, SCNN1A, CFTR, CCDC39 Specificity 75 % Genes 30 %
Pulmonary Disease: Comprehensive Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. GDNF, ASCL1, BDNF, DNAI1, SFTPB, BMPR2, DNAH5, NME8, SFTPC, ABCA3, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, LTBP4, DNAAF1, MUC5B, CCDC40, DNAL1 , (...) View the complete list with 33 more genes Panel GTR000512610 complete gene list GDNF, ASCL1, BDNF, DNAI1, SFTPB, BMPR2, DNAH5, NME8, SFTPC, ABCA3, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, LTBP4, DNAAF1, MUC5B, CCDC40, DNAL1, EFEMP2, CSF2RA, SMAD9, DOCK8, SFTPD, TERT, ELMOD2, ACVRL1, BLOC1S6, EDN3, SCNN1B, SCNN1G, SCNN1A, SERPINA1, ENG, FLCN, PHOX2B, TSC1, TSC2, CFTR, STAT3, AP3B1, CCDC39, HPS3, HPS4, HPS5, HPS6, BLOC1S3, HPS1, DTNBP1, ELN, RET, FBLN5 Specificity 23 % Genes 30 %
Bronchiectasis: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, SCNN1B, SCNN1G, SCNN1A, CFTR, CCDC39 Specificity 75 % Genes 30 %
Complement System Disorder Panel. By Blueprint Genetics in Finland. PTX3, ADIPOR2, VTN, VSIG4, C5AR1, C5AR2, C1QBP, C3AR1, CRP, FCN1, FCN2, CD93, CD55, ADIPOQ, C4BPB, MASP2, C8G, C8A, C8B, C6 , (...) View the complete list with 55 more genes Panel GTR000552657 complete gene list PTX3, ADIPOR2, VTN, VSIG4, C5AR1, C5AR2, C1QBP, C3AR1, CRP, FCN1, FCN2, CD93, CD55, ADIPOQ, C4BPB, MASP2, C8G, C8A, C8B, C6, C9, CD59, C4BPA, C5, CLU, HYDIN, COLEC11, CFP, C1QB, C1QA, C1QC, SERPING1, C2, CFD, FCN3, CR2, C7, MASP1, DGKE, C1S, MAT2A, THBD, C3, CD46, CFH, CFI, CFB, ADIPOR1, DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, DRC1, ZMYND10, ARMC4, RSPH1, DNAAF4, CCDC65, SPAG1, CCNO, OFD1, PIGA, CCDC39 Specificity 36 % Genes 68 %
Primary Ciliary Dyskinesia: gene sequencing panel. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. HYDIN, DNAI1, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, DRC1, ZMYND10, ARMC4, RSPH1 , (...) View the complete list with 11 more genes Panel GTR000560178 complete gene list HYDIN, DNAI1, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, DRC1, ZMYND10, ARMC4, RSPH1, DNAAF4, CFAP298, CCDC65, SPAG1, CCNO, CCDC151, RSPH3, MCIDAS, DNAH1, DNAH8, CCDC39 Specificity 100 % Genes 78 %
Bronchiectasis Panel (17 Genes). By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States. DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, RSPH1, SCNN1B, SCNN1G, SCNN1A, CFTR, CCDC39 Specificity 77 % Genes 33 %
Primary Ciliary Dyskinesia (PCD) via the DNAAF2 Gene. By PreventionGenetics PreventionGenetics in United States. DNAAF2 Specificity 100 % Genes 3 %
Pulmonary diseases - panels. By MGZ Medical Genetics Center in Germany. TBX4, DVL1, COL4A2, EIF2AK4, NOTCH2, DNAI1, BMPR2, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, DNAAF3, SMAD9, CAV1, KCNK3, DNAAF4 , (...) View the complete list with 11 more genes Panel GTR000552432 complete gene list TBX4, DVL1, COL4A2, EIF2AK4, NOTCH2, DNAI1, BMPR2, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, DNAAF3, SMAD9, CAV1, KCNK3, DNAAF4, CCNO, BMPR1B, ACVRL1, NOTCH1, COL4A1, CAV3, NOTCH3, ENG, CFTR, SARS2, ELN Specificity 39 % Genes 30 %
Primary Ciliary Dyskinesia 10: DNAAF2-Related Primary Ciliary Dyskinesia. By MVZ Dortmund Dr. Eberhard & Partner in Germany. DNAAF2 Specificity 100 % Genes 3 %
Bronchiectasis NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, SCNN1B, SCNN1G, SCNN1A, CFTR, CCDC39 Specificity 75 % Genes 30 %
Lung Disorders NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. GDNF, ASCL1, BDNF, SFTPA1, SFTPA2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, SFTPC, ABCA3, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, LTBP4, DNAAF1, MUC5B , (...) View the complete list with 31 more genes Panel GTR000509435 complete gene list GDNF, ASCL1, BDNF, SFTPA1, SFTPA2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, SFTPC, ABCA3, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, LTBP4, DNAAF1, MUC5B, CCDC40, DNAL1, EFEMP2, SMAD9, TERT, ACVRL1, TERC, BLOC1S6, EDN3, SCNN1B, SCNN1G, SCNN1A, SERPINA1, ENG, FLCN, PHOX2B, TSC1, TSC2, CFTR, AP3B1, CCDC39, HPS3, HPS4, HPS5, HPS6, BLOC1S3, HPS1, DTNBP1, ELN, RET, FBLN5 Specificity 24 % Genes 30 %
Kartagener's Syndrome or Heterotaxy with Chronic Respiratory Infections NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC39 Specificity 100 % Genes 28 %
Heterotaxy and Situs Inversus NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. CFC1, ACVR2B, LEFTY2, GDF1, ZIC3, NKX2-5, DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, DNAAF1, CCDC40, DNAL1, DNAAF3, FOXH1, NODAL, CCDC39, INVS Specificity 56 % Genes 28 %
DNAAF2. By Fulgent Genetics Fulgent Genetics in United States. DNAAF2 Specificity 100 % Genes 3 %
Comprehensive Pulmonology Panel. By Blueprint Genetics in Finland. SLC34A2, PIH1D3, SLC6A5, GLRA1, ITGA3, SFTPA1, SFTPA2, DNAI1, SFTPB, DNAH5, NME8, SFTPC, ABCA3, NKX2-1, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, LTBP4 , (...) View the complete list with 46 more genes Panel GTR000552734 complete gene list SLC34A2, PIH1D3, SLC6A5, GLRA1, ITGA3, SFTPA1, SFTPA2, DNAI1, SFTPB, DNAH5, NME8, SFTPC, ABCA3, NKX2-1, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, LTBP4, DNAAF1, CCDC40, DNAL1, CSF2RB, EFEMP2, CSF2RA, PARN, RSPH3, GAS8, TERT, DNAH1, ELMOD2, TERC, DKC1, EDN3, ZEB2, CHRNB1, CHRND, CHRNA1, COLQ, SCNN1B, SCNN1A, NF1, SCN4A, RAPSN, RTEL1, SLC7A7, SERPINA1, CHRNE, FLCN, PHOX2B, TSC1, TSC2, TINF2, FOXF1, CFTR, STAT3, CHAT, CCDC39, HPS4, HPS1, MECP2, SMPD1, ELN, RET, FBLN5 Specificity 25 % Genes 40 %
Bronchiectasis Panel. By Blueprint Genetics in Finland. DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, SCNN1B, SCNN1A, CFTR, CCDC39 Specificity 80 % Genes 30 %
Heterotaxy and Situs Inversus Panel. By Blueprint Genetics in Finland. PKD1L1, MMP21, PIH1D3, ANKS6, ACVR2B, LEFTY2, GDF1, ZIC3, DNAI1, DNAH5, DNAH11, DNAI2, DNAAF2, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC103, DNAAF5, LRRC6 , (...) View the complete list with 12 more genes Panel GTR000561516 complete gene list PKD1L1, MMP21, PIH1D3, ANKS6, ACVR2B, LEFTY2, GDF1, ZIC3, DNAI1, DNAH5, DNAH11, DNAI2, DNAAF2, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, ZMYND10, ARMC4, DNAAF4, CFAP298, SPAG1, CCDC151, TTC25, FOXH1, NODAL, CCDC39, INVS Specificity 69 % Genes 56 %
Ciliary dyskinesia, primary 11 (sequence analysis of RSPH4A gene). By CGC Genetics in Portugal. RSPH4A Specificity 100 % Genes 3 %
Primary ciliary dyskinesia type 11. By Centogene AG - the Rare Disease Company in Germany. RSPH4A Specificity 100 % Genes 3 %
PRIMARY CILIARY DYSKINESIA. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. HYDIN, DNAI1, DNAH5, NME8, DNAH11, DNAI2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, CCDC39 Specificity 100 % Genes 43 %
RSPH4A. By Fulgent Genetics Fulgent Genetics in United States. RSPH4A Specificity 100 % Genes 3 %
Primary Ciliary Dyskinesia , Panel Massive Sequencing (NGS) 17 Genes. By Reference Laboratory Genetics in Spain. HYDIN, DNAI1, DNAH5, NME8, DNAH11, DNAI2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, CCDC39 Specificity 100 % Genes 43 %
Primary Ciliary Dyskinesia (PCD) via RSPH4A Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. RSPH4A Specificity 100 % Genes 3 %
Primary Ciliary Dyskinesia 11: RSPH4A-Related Primary Ciliary Dyskinesia. By MVZ Dortmund Dr. Eberhard & Partner in Germany. RSPH4A Specificity 100 % Genes 3 %
Primary ciliary dyskinesia 12 (sequence analysis of RSPH9 gene). By CGC Genetics in Portugal. RSPH9 Specificity 100 % Genes 3 %
Primary Ciliary Dyskinesia (PCD) via RSPH9 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. RSPH9 Specificity 100 % Genes 3 %
Nuclear-Mito NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. CNR1, CHDH, CLYBL, NIPSNAP3A, IDE, IMMT, LETM1, MAVS, RAB11FIP5, POLRMT, PTGES2, PPARGC1A, AS3MT, ACSM3, ACSL5, DMAC2, ATP10D, NDUFB1, HK2, ECI1 , (...) View the complete list with 484 more genes Panel GTR000510915 complete gene list CNR1, CHDH, CLYBL, NIPSNAP3A, IDE, IMMT, LETM1, MAVS, RAB11FIP5, POLRMT, PTGES2, PPARGC1A, AS3MT, ACSM3, ACSL5, DMAC2, ATP10D, NDUFB1, HK2, ECI1, ECSIT, GLS, NDUFA6, HSD3B1, HSPB7, HIGD2A, GLO1, GAD2, H6PD, SHMT1, FPGS, MTHFD1L, MTHFS, MDH1, TPH2, TOMM40, ACHE, ARMS2, BCAT1, BCAT2, HSPA9, TIMM44, MTHFD1, TXN2, PARP1, COQ5, NDUFA4, FASN, CDC42BPB, DISC1, MOCOS, NDUFB9, GPX4, ABCD3, DECR1, PCK1, BCL2, NOS3, GLRA1, NTHL1, PEX11B, FTH1, SLC27A4, COA5, PMPCA, COQ4, AAAS, CLCN5, MED23, PREPL, HOGA1, TPI1, AKT1, INSR, IDH1, AKT2, HADH, DDC, EARS2, SCO1, COX10, NDUFB6, NDUFV3, NDUFA7, NDUFA8, COX4I1, MARS2, NDUFS5, MRRF, TFB1M, ACACB, IMMP2L, TXNRD2, GNAS, GNPAT, PGK1, TFAM, RSPH9, KCNE2, RYR2, ANK2, ABCC9, CLCN2, UROS, PKLR, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, NARS2, PEX6, KCNQ1, KCNE1, LARS2, SLC19A2, NRXN1, CACNA2D1, MFSD8, DNAJC5, SCN5A, CHRNA4, KCNQ3, KCNQ2, FOLR1, SCN2A, SCN1B, KCNH2, CHRNB2, TDP1, KCNA1, KCNJ2, RYR1, CACNA1S, SPART, SPAST, CLCNKB, PDX1, KCNJ11, LRRK2, CACNA1A, ATXN7, SCN4A, CLCN1, SCN1A, GDAP1, CLN5, ABCC8, PEX1, SACS, PEX7, PPT1, PEX2, CYBB, G6PD, CLN8, CLN6, SDHD, SLC2A1, DMPK, FOXG1, CDKL5, CFTR, CPT1B, MOGS, SUGCT, SDHA, PDHX, MTFMT, SLC6A8, HARS2, FARS2, TACO1, PHB, AKAP10, PNKD, CPOX, GPD2, MEN1, WWOX, OGG1, PPOX, FECH, SLC22A4, ANKRD26, CLN3, TPP1, GLRX5, SLC25A38, APTX, PRKN, SLC25A20, SLC22A5, CYP27A1, ASS1, SLC3A1, COX6B1, FASTKD2, LRPPRC, GLYCTK, FXN, GCDH, ETFDH, ETFA, ETFB, CYBA, HK1, L2HGDH, NAGS, SLC25A15, PNMT, PAK5, PACRG, NLRX1, NDUFC2, ACLY, PARL, KYNU, TSPO, FAAH, GPAM, ENO1, COX7A2, DDAH1, MAOB, BAX, MRPL48, MTCH2, AKR7A2, AGXT2, MGST3, MGLL, NPL, CKM, NIPSNAP1, USP24, TOP1MT, TST, SIRT3, SIRT1, SLC25A39, SIRT5, ALDH4A1, IVD, OXCT1, GALC, DLAT, SUCLG1, MLYCD, DBT, HIBCH, CYB5A, CYB5R3, MUT, MMAA, MMAB, MCEE, NDUFAF5, NDUFS2, NDUFS6, NDUFV2, NDUFV1, NDUFS1, NDUFAF4, NDUFA11, NDUFA1, NDUFAF3, SDHAF1, MOCS1, MOCS2, CHAT, CPT1A, ISCU, NDUFAF6, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, NME1, OAT, TCIRG1, AGXT, PAH, QDPR, PTS, PGAM2, CYP27B1, ALDH7A1, PHYH, AK2, SARDH, ALDH3A2, ALDH5A1, SUOX, MMADHC, ABCD1, ACSL4, MAOA, AIFM1, ABCB7, TAZ, TIMM8A, GK, PDHA1, HCCS, OTC, AGPS, PUS1, D2HGDH, RNASEL, PPARGC1B, UCP3, UCP1, ETHE1, TYMP, GAD1, SCO2, TAP1, CISD2, DMGDH, AMT, GLDC, GCSH, HMGCS2, PCCA, PCCB, GLUD1, SPG7, COQ2, UCP2, NDUFA13, UNG, ATIC, PDP1, HADHB, GFM1, SLC25A22, TK2, SECISBP2, ACADSB, CTSD, POLG2, DNAJC19, REEP1, ALDH2, HTRA2, MRPS16, TSFM, TUFM, SLC25A3, DARS2, ACAD8, RARS2, GYS1, MRPS22, CYCS, SUCLA2, SDHB, RPL35A, COX4I2, SPR, GATM, ENO3, LDHA, SLC25A12, TMEM126A, GFER, ABAT, GPI, SPTLC2, KARS, IDH2, SCP2, CYP11A1, CYP24A1, G6PC, NUBPL, NDUFA10, TAT, XPNPEP3, MTPAP, TTC19, HSD3B2, HMGCL, NDUFAF1, PCK2, NFU1, SARS2, TMEM70, ACAT2, ALDH6A1, PDHB, LDHB, DIABLO, GPX1, ACSF3, BOLA3, DGUOK, DNM1L, ALDH18A1, AGK, COX14, NDUFA9, GPD1, NDUFB3, LIAS, HARS, DHODH, IDH3B, NDUFA12, ACO2, MRPL3, COQ6, PDSS1, PDSS2, COQ9, MTO1, CYP11B2, MECP2, FH, OPA3, HADHA, PANK2, SDHC, MFN2, SLC25A13, ALAS2, KIF1B, NDUFAF2, RRM2B, FOXRED1, CYP11B1, AFG3L2, GARS, GCK, SLC25A4, SLC25A19, HSPD1, NDUFS4, POLG, DLD, AASS, FOXC1, HSD17B10, PRODH, COMT, WFS1, DTNBP1, CLCN7, PYCR1, CASP8, TRMU, ABCB6, KRT5, OPA1, CPT2, CPS1, HSD17B4, AMACR, MTRR, SLC16A1, ELN, SDHAF2, ELAC2, STAR, MMACHC, ADSL, C12orf65, TWNK, BCS1L, BCKDHB, BCKDHA, AUH, ATPAF2, ATP8B1, ATP7B, ATP5F1E, HLCS, UQCRB, UQCRQ, GYS2, PC, FBP1, YARS2, ACAT1, ACADVL, ACADS, ACADM, ACADL, ACAD9, ACACA, AARS2, MCCC2, MCCC1, TP53, MUTYH, UBE3A, HTT Specificity 1 % Genes 3 %
Primary ciliary dyskinesia. By Bioarray in Spain. RSPH9 Specificity 100 % Genes 3 %
Primary Ciliary Dyskinesia Type 12, Sequencing RSPH9 Gene. By Reference Laboratory Genetics in Spain. RSPH9 Specificity 100 % Genes 3 %
RSPH9. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. RSPH9 Specificity 100 % Genes 3 %
Primary ciliary dyskinesia (p.Lys268del mutation on RSPH9 gene). By CGC Genetics in Portugal. RSPH9 Specificity 100 % Genes 3 %
Primary ciliary dyskinesia type 12. By Centogene AG - the Rare Disease Company in Germany. RSPH9 Specificity 100 % Genes 3 %
Primary Ciliary Dyskinesia 12: RSPH9-Related Primary Ciliary Dyskinesia. By MVZ Dortmund Dr. Eberhard & Partner in Germany. RSPH9 Specificity 100 % Genes 3 %
RSPH9. By Fulgent Genetics Fulgent Genetics in United States. RSPH9 Specificity 100 % Genes 3 %
Ciliary dyskinesia, primary 13 (sequence analysis of DNAAF1 gene). By CGC Genetics in Portugal. DNAAF1 Specificity 100 % Genes 3 %
Primary Ciliary Dyskinesia (PCD) via the DNAAF1 / LRRC50 Gene. By PreventionGenetics PreventionGenetics in United States. DNAAF1 Specificity 100 % Genes 3 %
Primary ciliary dyskinesia type 13. By Centogene AG - the Rare Disease Company in Germany. DNAAF1 Specificity 100 % Genes 3 %
DNAAF1. By Fulgent Genetics Fulgent Genetics in United States. DNAAF1 Specificity 100 % Genes 3 %
PRIMARY CILIARY DYSKINESIA (KARTAGENER SYNDROME). By Laboratorio de Genetica Clinica SL in Spain. DNAI1, DNAH5, DNAH11, DNAI2, DNAAF1, CCDC40, LRRC6, CCDC39 Specificity 100 % Genes 20 %
Ciliary dyskinesia, primary 15 (sequence analysis of CCDC40 gene). By CGC Genetics in Portugal. CCDC40 Specificity 100 % Genes 3 %
Primary Ciliary Dyskinesia (PCD) via the CCDC40 Gene. By PreventionGenetics PreventionGenetics in United States. CCDC40 Specificity 100 % Genes 3 %
CCDC40. By Fulgent Genetics Fulgent Genetics in United States. CCDC40 Specificity 100 % Genes 3 %
Primary ciliary dyskinesia type 15. By Centogene AG - the Rare Disease Company in Germany. CCDC40 Specificity 100 % Genes 3 %
Primary Ciliary Dyskinesia 15: CCDC40-Related Primary Ciliary Dyskinesia. By MVZ Dortmund Dr. Eberhard & Partner in Germany. CCDC40 Specificity 100 % Genes 3 %
Ciliary dyskinesia, primary 16 (sequence analysis of DNAL1 gene). By CGC Genetics in Portugal. DNAL1 Specificity 100 % Genes 3 %
Primary Ciliary Dyskinesia (PCD) via DNAL1 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. DNAL1 Specificity 100 % Genes 3 %
DNAL1. By Fulgent Genetics Fulgent Genetics in United States. DNAL1 Specificity 100 % Genes 3 %
Primary ciliary dyskinesia type 16. By Centogene AG - the Rare Disease Company in Germany. DNAL1 Specificity 100 % Genes 3 %
Ciliary dyskinesia, primary 17 (sequence analysis of CCDC103 gene). By CGC Genetics in Portugal. CCDC103 Specificity 100 % Genes 3 %
Primary Ciliary Dyskinesia (PCD) via the CCDC103 Gene. By PreventionGenetics PreventionGenetics in United States. CCDC103 Specificity 100 % Genes 3 %
Primary ciliary dyskinesia type 17. By Centogene AG - the Rare Disease Company in Germany. CCDC103 Specificity 100 % Genes 3 %
CCDC103. By Fulgent Genetics Fulgent Genetics in United States. CCDC103 Specificity 100 % Genes 3 %
Primary ciliary dyskinesia type 19. By Centogene AG - the Rare Disease Company in Germany. LRRC6 Specificity 100 % Genes 3 %
Ciliary dyskinesia, primary 19 (sequence analysis of LRRC6 gene). By CGC Genetics in Portugal. LRRC6 Specificity 100 % Genes 3 %
Primary Ciliary Dyskinesia (PCD) via the LRRC6 Gene. By PreventionGenetics PreventionGenetics in United States. LRRC6 Specificity 100 % Genes 3 %
Single gene testing LRRC6. By CeGaT GmbH in Germany. LRRC6 Specificity 100 % Genes 3 %
LRRC6. By Fulgent Genetics Fulgent Genetics in United States. LRRC6 Specificity 100 % Genes 3 %
POLR2K. By Fulgent Genetics Fulgent Genetics in United States. POLR2K Specificity 100 % Genes 3 %
CCDC151. By Fulgent Genetics Fulgent Genetics in United States. CCDC151 Specificity 100 % Genes 3 %
Primary Ciliary Dyskinesia (PCD) via CCDC151 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. CCDC151 Specificity 100 % Genes 3 %
CCNO. By MGZ Medical Genetics Center in Germany. CCNO Specificity 100 % Genes 3 %
Primary Ciliary Dyskinesia (PCD) via CCNO Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. CCNO Specificity 100 % Genes 3 %
Primary ciliary dyskinesia type 29. By Centogene AG - the Rare Disease Company in Germany. CCNO Specificity 100 % Genes 3 %
CCNO. By Fulgent Genetics Fulgent Genetics in United States. CCNO Specificity 100 % Genes 3 %
ZMYND10. By Fulgent Genetics Fulgent Genetics in United States. ZMYND10 Specificity 100 % Genes 3 %
Primary Ciliary Dyskinesia (PCD) via ZMYND10 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. ZMYND10 Specificity 100 % Genes 3 %
Ciliary dyskinesia, primary 20 (sequence analysis of CCDC114 gene). By CGC Genetics in Portugal. CCDC114 Specificity 100 % Genes 3 %
Primary Ciliary Dyskinesia (PCD) via the CCDC114 Gene. By PreventionGenetics PreventionGenetics in United States. CCDC114 Specificity 100 % Genes 3 %
Primary ciliary dyskinesia type 20. By Centogene AG - the Rare Disease Company in Germany. CCDC114 Specificity 100 % Genes 3 %
CCDC114. By Fulgent Genetics Fulgent Genetics in United States. CCDC114 Specificity 100 % Genes 3 %
Male Infertility Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. GALNTL5, ZMYND15, SUN5, TEX11, SLC26A8, SEPT12, NPAS2, TAF4B, PLCZ1, KLHL10, INSL3, CFAP43, CFAP44, BRDT, CBX2, AKR1C4, DMRT2, DMRT1, SYCE1, CCDC141 , (...) View the complete list with 86 more genes Panel GTR000553213 complete gene list GALNTL5, ZMYND15, SUN5, TEX11, SLC26A8, SEPT12, NPAS2, TAF4B, PLCZ1, KLHL10, INSL3, CFAP43, CFAP44, BRDT, CBX2, AKR1C4, DMRT2, DMRT1, SYCE1, CCDC141, AXL, HS6ST1, SPRY4, DUSP6, FLRT3, CATSPER1, NANOS1, AURKC, PICK1, SPATA16, KISS1, TAC3, WDR11, FGF17, FSHB, LHB, AMHR2, AMH, MAMLD1, FEZF1, RSPO1, NSMF, MAP3K1, WNT4, SEMA3A, DHH, IL17RD, CYP19A1, GATA4, SRD5A2, LHX3, LHX4, HSD17B3, ADGRG2, NR5A1, SYCP3, DNAH1, SOX9, POR, SOX3, SEMA3E, SOX10, ATRX, ANOS1, FGF8, PROK2, PROKR2, GNRHR, KISS1R, TACR3, LHCGR, FGFR1, GNRH1, NR0B1, PROP1, FGFR2, SRY, PCSK1, LEPR, LEP, CHD7, CFTR, ARX, AR, AIRE, WWOX, HESX1, CYP17A1, SOX2, BBS2, BBS1, BBS4, BBS10, BBS9, BBS12, BBS5, BBS7, CYP11A1, TRIM32, TTC8, MKKS, ARL6, WT1, STAR, FOXL2, HFE Specificity 1 % Genes 3 %
Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. CHD4, TOE1, ATF3, BNC2, HHAT, GALNTL5, ZMYND15, SUN5, TEX11, SLC26A8, SEPT12, NPAS2, TAF4B, PLCZ1, KLHL10, INSL3, CFAP43, CFAP44, BRDT, CBX2 , (...) View the complete list with 186 more genes Panel GTR000553215 complete gene list CHD4, TOE1, ATF3, BNC2, HHAT, GALNTL5, ZMYND15, SUN5, TEX11, SLC26A8, SEPT12, NPAS2, TAF4B, PLCZ1, KLHL10, INSL3, CFAP43, CFAP44, BRDT, CBX2, AKR1C4, STAG3, PRLR, PADI6, SOHLH1, DMRT2, DMRT1, SYCE1, CCDC141, AXL, HOXA4, HOXB6, BMP7, MCM9, ZP1, NUP107, HS6ST1, SPRY4, DUSP6, FLRT3, CATSPER1, NANOS1, AURKC, PICK1, SPATA16, NR3C1, TWIST2, TRAIP, KISS1, PTDSS1, PDE4D, CUL7, TAC3, WDR11, FGF17, FSHB, LHB, AMHR2, AMH, MAMLD1, FSHR, BMP15, NOBOX, FIGLA, PSMC3IP, HFM1, MCM8, WDR60, SPECC1L, NEK1, FEZF1, ICK, IRF6, FRAS1, RSPO1, NSMF, MAP3K1, ZFPM2, CCNQ, TSPYL1, WNT7A, WNT4, TBX15, SEMA3A, ROR2, DNMT3B, DHH, IL17RD, HOXA13, FREM2, ESCO2, GRIP1, DYNC2H1, CYP19A1, WNT5A, UBR1, EPG5, B3GLCT, BMP4, EVC, CEP41, GATA4, EFNB1, SRD5A2, LHX3, LHX4, HSD17B3, ADGRG2, FGF10, NR5A1, SYCP3, RIPK4, FBXL4, DNAH1, TP63, GLI3, PCNT, SOX9, POR, SOX3, WDR35, FAT4, MED12, MID1, SEMA3E, SOX10, CLPP, SALL1, ZEB2, SETBP1, OPHN1, ATRX, FLNA, ANOS1, FGF8, PROK2, PROKR2, GNRHR, KISS1R, TACR3, LHCGR, FGFR1, GNRH1, NR0B1, EIF2B4, EIF2B2, EIF2B3, LMNA, FIG4, EIF2B5, PEX1, PROP1, HBA1, GPC3, CDKN1C, FGFR2, SRY, SOS1, PTPN11, PCSK1, LEPR, LEP, EIF2B1, DHCR7, CREBBP, CHD7, CFTR, ARX, AR, AIRE, FGFR3, WWOX, HESX1, CYP17A1, SOX2, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, GALT, CYB5A, BCOR, HCCS, CYP11A1, DHCR24, RBBP8, EVC2, HSD3B2, TMEM70, CYP11B1, TRIM32, TTC8, MKKS, ARL6, PITX2, HSD17B4, HNF1B, WT1, STAR, FOXL2, HFE Specificity 1 % Genes 3 %
Primary Ciliary Dyskinesia (PCD) via the DNAH1 Gene. By PreventionGenetics PreventionGenetics in United States. DNAH1 Specificity 100 % Genes 3 %
DNAH1. By Fulgent Genetics Fulgent Genetics in United States. DNAH1 Specificity 100 % Genes 3 %
RSPH3. By Fulgent Genetics Fulgent Genetics in United States. RSPH3 Specificity 100 % Genes 3 %
Primary Ciliary Dyskinesia (PCD) via RSPH3 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. RSPH3 Specificity 100 % Genes 3 %
Primary Ciliary Dyskinesia (PCD) via the DNAH8 Gene. By PreventionGenetics PreventionGenetics in United States. DNAH8 Specificity 100 % Genes 3 %
DNAH8. By Fulgent Genetics Fulgent Genetics in United States. DNAH8 Specificity 100 % Genes 3 %
HYDIN. By Fulgent Genetics Fulgent Genetics in United States. HYDIN Specificity 100 % Genes 3 %
Ciliary dyskinesia, primary 5 (sequence analysis of HYDIN gene). By CGC Genetics in Portugal. HYDIN Specificity 100 % Genes 3 %
Primary ciliary dyskinesia type 5. By Centogene AG - the Rare Disease Company in Germany. HYDIN Specificity 100 % Genes 3 %
Primary Ciliary Dyskinesia (PCD) via C21ORF59 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. CFAP298 Specificity 100 % Genes 3 %
Primary ciliary dyskinesia type 26. By Centogene AG - the Rare Disease Company in Germany. CFAP298 Specificity 100 % Genes 3 %
C21orf59. By Fulgent Genetics Fulgent Genetics in United States. CFAP298 Specificity 100 % Genes 3 %
Primary Ciliary Dyskinesia (PCD) via DNAI2 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. DNAI2 Specificity 100 % Genes 3 %
Primary ciliary dyskinesia type 9. By Centogene AG - the Rare Disease Company in Germany. DNAI2 Specificity 100 % Genes 3 %
Primary Ciliary Dyskinesia 9: DNAI2-Related Primary Ciliary Dyskinesia. By MVZ Dortmund Dr. Eberhard & Partner in Germany. DNAI2 Specificity 100 % Genes 3 %
DNAI2. By Fulgent Genetics Fulgent Genetics in United States. DNAI2 Specificity 100 % Genes 3 %
CarrierMap. By Recombine in United States. VPS53, SLC26A3, BCHE, HGD, GDF5, XPC, SLC7A9, LIFR, XPA, WRN, SEPSECS, MED17, ASNS, AMHR2, AMH, CYP19A1, HJV, HOGA1, TFR2, TTC37 , (...) View the complete list with 281 more genes Panel GTR000528277 complete gene list VPS53, SLC26A3, BCHE, HGD, GDF5, XPC, SLC7A9, LIFR, XPA, WRN, SEPSECS, MED17, ASNS, AMHR2, AMH, CYP19A1, HJV, HOGA1, TFR2, TTC37, EDA, CIITA, COL7A1, SLC39A4, ERCC8, RAG2, VSX2, EIF2AK3, LPL, EVC2, EVC, FANCG, FANCA, F8, F9, SRD5A2, MEFV, TECPR2, ERCC6, DNAI1, DNAI2, LYST, CTSC, EXOSC3, POR, RAB23, CHRNG, PEX10, LOXHD1, PEX6, PRPS1, SLC4A11, MYO15A, ATP6V1B1, VPS13A, VPS13B, MFSD8, TSEN54, SGCD, EMD, VRK1, MTM1, COL4A5, BSND, SLC12A3, COL4A4, CYP21A2, KCNJ11, LHCGR, DYSF, FKRP, NTRK1, GJB1, TMEM216, TGM1, RAPSN, PKHD1, PHGDH, LAMC2, EIF2B5, CLN5, CAPN3, ABCC8, WAS, TTPA, SUMF1, SLC17A5, SLC12A6, SGCG, RTEL1, POMGNT1, PEX1, MPL, MCOLN1, MLC1, LAMA3, GRHPR, TH, UGT1A1, SLC35A3, SLC26A2, SACS, SLC7A7, SERPINA1, SGCB, SGCA, PEX7, PPT1, DCLRE1C, NPHS1, PROP1, NPHS2, PEX2, CYBB, CTNS, NEB, HBA2, G6PD, MTTP, FKTN, LAMB3, HBA1, DOK7, COL4A3, CLN8, CLN6, CHRNE, ADAMTS2, BRIP1, NBN, ATM, SMN1, RMRP, NPC2, NPC1, LIPA, IDUA, IDS, GLA, GJB2, DMD, DHCR7, BLM, GBA, FANCC, CFTR, ELP1, ASPA, ARSA, AR, AIRE, IL2RG, ARSB, AGA, ADA, NR2E3, CYP17A1, TPP1, ASL, BBS2, BBS1, BBS10, MKS1, BBS12, PMM2, SLC25A20, SLC22A5, CYP27A1, ASS1, SLC3A1, LRPPRC, GALK1, GALT, GCDH, ETFDH, ETFA, ETFB, GBE1, PYGM, PFKM, CYBA, CBS, SLC25A15, IVD, GALC, MLYCD, MAN2B1, DBT, MUT, MMAA, MMAB, NDUFS6, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, CPT1A, MPV17, TCIRG1, AGXT, PAH, PTS, ACOX1, CTSK, HEXB, ALDH3A2, HEXA, ABCD1, PDHA1, OTC, PUS1, MYO7A, ETHE1, MPI, TYMP, ALG6, LCA5, AMT, GLDC, PCCA, PCCB, CERKL, HADHB, HAX1, RARS2, RDH12, GAMT, G6PC, TAT, FAM161A, HSD3B2, HMGCL, FAH, RS1, DHDDS, HPS3, PDHB, HPS1, CDH23, SLC26A4, CYP11B2, SMPD1, GUCY2D, RLBP1, RPE65, FH, OPA3, HADHA, SLC25A13, CYP11B1, POLG, DLD, PCDH15, USH2A, TRIM32, CLRN1, CEP290, CYP1B1, ABCA4, OCRL, GNE, GLB1, GNPTAB, TRMU, CPT2, HSD17B4, ABCA12, SLC37A4, TYR, CHM, SLC45A2, STAR, TYRP1, MMACHC, HBB, GAA, BCS1L, BCKDHB, BCKDHA, ATP7B, BTD, ATP7A, HLCS, ARG1, ALPL, USH1C, PC, ALDOB, ACAT1, ACADVL, AGL, ACADS, ACADM, ABCB11, MCCC2, MCCC1, HPS4, MTHFR, FMR1 Specificity 1 % Genes 5 %
Ciliary dyskinesia, primary 9 (sequence analysis of DNAI2 gene). By CGC Genetics in Portugal. DNAI2 Specificity 100 % Genes 3 %
Primary Ciliary Dyskinesia (PCD) via the CCDC65 Gene. By PreventionGenetics PreventionGenetics in United States. CCDC65 Specificity 100 % Genes 3 %
Primary ciliary dyskinesia type 27. By Centogene AG - the Rare Disease Company in Germany. CCDC65 Specificity 100 % Genes 3 %
Single gene testing CCDC65. By CeGaT GmbH in Germany. CCDC65 Specificity 100 % Genes 3 %
CCDC65. By Fulgent Genetics Fulgent Genetics in United States. CCDC65 Specificity 100 % Genes 3 %
Heterotaxia. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. ACVR2B, CRELD1, LEFTY2, SHROOM3, CITED2, GATA4, GDF1, ZIC3, SMAD2, NKX2-5, DNAI1, DNAH5, DNAH11, FOXH1, NODAL Specificity 20 % Genes 8 %
DNAH5. Sequencing of the exons 34, 50, 63, 76 and 77. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. DNAH5 Specificity 100 % Genes 3 %
Kartagener syndrome (sequence analysis of DNAH5 gene). By CGC Genetics in Portugal. DNAH5 Specificity 100 % Genes 3 %
Primary Ciliary Dyskinesia (PCD) via DNAH5 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. DNAH5 Specificity 100 % Genes 3 %
Primary Ciliary Dyskinesia 3: DNAH5-Related Primary Ciliary Dyskinesia. By Bioscientia GmbH Center for Human Genetics in Germany. DNAH5 Specificity 100 % Genes 3 %
Primary ciliary dyskinesia type 3. By Centogene AG - the Rare Disease Company in Germany. DNAH5 Specificity 100 % Genes 3 %
Male Factor Infertility. By Asper Biogene Asper Biogene LLC in Estonia. RXFP2, XIST, DDX25, ESR2, NLRP14, PRDM9, PRM1, PRM2, PRM3, RBMXL2, TEKT2, USP26, UTP14C, INSL3, FSHB, DNAI1, DNAH5, DNAH11, GNRHR, CFTR , (...) View the complete list with 1 more genes Panel GTR000520059 complete gene list RXFP2, XIST, DDX25, ESR2, NLRP14, PRDM9, PRM1, PRM2, PRM3, RBMXL2, TEKT2, USP26, UTP14C, INSL3, FSHB, DNAI1, DNAH5, DNAH11, GNRHR, CFTR, FMR1 Specificity 15 % Genes 8 %
Primary ciliary dyskinesia 3. By Praxis fuer Humangenetik Wien in Austria. DNAH5 Specificity 100 % Genes 3 %
Primary ciliary dyskinesia 3. By MedGene in Slovakia. DNAH5 Specificity 100 % Genes 3 %
Primary ciliary dyskinesia type 3. By Bioarray in Spain. DNAH5 Specificity 100 % Genes 3 %
Primary Ciliary Dyskinesia Type 3, Deletions-Duplications (MLPA) DNAH5 Gene. By Reference Laboratory Genetics in Spain. DNAH5 Specificity 100 % Genes 3 %
Heterotaxy V2 Panel. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. BCL9L, CFAP53, NAT10, CFC1, GATA6, ACVR2B, CRELD1, LEFTY2, SHROOM3, GDF1, ZIC3, GJA1, NKX2-5, DNAH5, DNAH11, FOXH1, NODAL Specificity 12 % Genes 5 %
DNAH5. Sequencing of the exons 13, 17, 26-28, 32-33, 36, 41, 48, 49, 53, 62 and 67. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. DNAH5 Specificity 100 % Genes 3 %
DNAH5. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. DNAH5 Specificity 100 % Genes 3 %
Primary ciliary dyskinesia 3 (CILD3, sequence analysis of DNAH5 gene). By CGC Genetics in Portugal. DNAH5 Specificity 100 % Genes 3 %
Primary Ciliary Dyskinesia 3: DNAH5-Related Primary Ciliary Dyskinesia. By MVZ Dortmund Dr. Eberhard & Partner in Germany. DNAH5 Specificity 100 % Genes 3 %
Primary ciliary Dyskinesia: DNAI1 and DNAH5 genes screening. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. DNAI1, DNAH5 Specificity 100 % Genes 5 %
DNAH5. By Fulgent Genetics Fulgent Genetics in United States. DNAH5 Specificity 100 % Genes 3 %
Primary ciliary dyskinesia type 3. By Bioarray in Spain. DNAH5 Specificity 100 % Genes 3 %
Primary ciliary dyskinesia type 3. By Bioarray in Spain. DNAH5 Specificity 100 % Genes 3 %
Primary Ciliary Dyskinesia Type 3, Sequencing DNAH5 Gen. By Reference Laboratory Genetics in Spain. DNAH5 Specificity 100 % Genes 3 %
Primary Ciliary Dyskinesia (PCD) via the DRC1 Gene. By PreventionGenetics PreventionGenetics in United States. DRC1 Specificity 100 % Genes 3 %
DRC1. By Fulgent Genetics Fulgent Genetics in United States. DRC1 Specificity 100 % Genes 3 %
DNAI1. Sequencing of the exons 1, 13, 16, 17 and 18. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. DNAI1 Specificity 100 % Genes 3 %
DNAI1. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. DNAI1 Specificity 100 % Genes 3 %
Ciliary dyskinesia, primary 1 (sequence analysis of DNAI1 gene). By CGC Genetics in Portugal. DNAI1 Specificity 100 % Genes 3 %
Primary Ciliary Dyskinesia (PCD) via DNAI1 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. DNAI1 Specificity 100 % Genes 3 %
Single gene testing DNAI1. By CeGaT GmbH in Germany. DNAI1 Specificity 100 % Genes 3 %
Primary Ciliary Dyskinesia 1: DNAI1-Related Primary Ciliary Dyskinesia. By MVZ Dortmund Dr. Eberhard & Partner in Germany. DNAI1 Specificity 100 % Genes 3 %
Primary ciliary dyskinesia 1. By MedGene in Slovakia. DNAI1 Specificity 100 % Genes 3 %
DNAI1. By Fulgent Genetics Fulgent Genetics in United States. DNAI1 Specificity 100 % Genes 3 %
Primary ciliary dyskinesia type 1. By Bioarray in Spain. DNAI1 Specificity 100 % Genes 3 %
Primary Ciliary Dyskinesia Type 1 , Sequencing DNAI1 Gene. By Reference Laboratory Genetics in Spain. DNAI1 Specificity 100 % Genes 3 %
Hydrocephalus Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. HDAC6, EML1, WDR81, MPDZ, CCDC88C, CRB2, CCND2, AKT3, PIK3R2, ZIC3, P4HB, DNAI1, FLVCR2, AP1S2, POMT1, L1CAM, PTEN Specificity 6 % Genes 3 %
Primary Ciliary Dyskinesia 1: DNAI1-Related Primary Ciliary Dyskinesia. By Bioscientia GmbH Center for Human Genetics in Germany. DNAI1 Specificity 100 % Genes 3 %
Primary ciliary dyskinesia type 1. By Centogene AG - the Rare Disease Company in Germany. DNAI1 Specificity 100 % Genes 3 %
Primary ciliary dyskinesia 1. By Praxis fuer Humangenetik Wien in Austria. DNAI1 Specificity 100 % Genes 3 %
Primary ciliary dyskinesia type 23. By Centogene AG - the Rare Disease Company in Germany. ARMC4 Specificity 100 % Genes 3 %
ARMC4. By Fulgent Genetics Fulgent Genetics in United States. ARMC4 Specificity 100 % Genes 3 %
Primary Ciliary Dyskinesia (PCD) via the RSPH1 Gene. By PreventionGenetics PreventionGenetics in United States. RSPH1 Specificity 100 % Genes 3 %
Primary ciliary dyskinesia type 24. By Centogene AG - the Rare Disease Company in Germany. RSPH1 Specificity 100 % Genes 3 %
RSPH1. By Fulgent Genetics Fulgent Genetics in United States. RSPH1 Specificity 100 % Genes 3 %
Single gene testing RSPH1. By CeGaT GmbH in Germany. RSPH1 Specificity 100 % Genes 3 %
Primary Ciliary Dyskinesia (PCD) via the SPAG1 Gene. By PreventionGenetics PreventionGenetics in United States. SPAG1 Specificity 100 % Genes 3 %
Primary ciliary dyskinesia type 28. By Centogene AG - the Rare Disease Company in Germany. SPAG1 Specificity 100 % Genes 3 %
Ciliary dyskinesia, primary 2 (sequence analysis of DNAAF3 gene). By CGC Genetics in Portugal. DNAAF3 Specificity 100 % Genes 3 %
Primary Ciliary Dyskinesia via the DNAAF3 Gene. By PreventionGenetics PreventionGenetics in United States. DNAAF3 Specificity 100 % Genes 3 %
Primary ciliary dyskinesia type 2. By Centogene AG - the Rare Disease Company in Germany. DNAAF3 Specificity 100 % Genes 3 %
DNAAF3. By Fulgent Genetics Fulgent Genetics in United States. DNAAF3 Specificity 100 % Genes 3 %
TTC25. By Fulgent Genetics Fulgent Genetics in United States. TTC25 Specificity 100 % Genes 3 %
Ciliary dyskinesia, primary 6 (sequence analysis of NME8 gene). By CGC Genetics in Portugal. NME8 Specificity 100 % Genes 3 %
Primary Ciliary Dyskinesia (PCD) via NME8 (TXNDC3) Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. NME8 Specificity 100 % Genes 3 %
Primary ciliary dyskinesia type 6. By Centogene AG - the Rare Disease Company in Germany. NME8 Specificity 100 % Genes 3 %
Single gene testing NME8. By CeGaT GmbH in Germany. NME8 Specificity 100 % Genes 3 %
NME8. By Fulgent Genetics Fulgent Genetics in United States. NME8 Specificity 100 % Genes 3 %
Ciliary dyskinesia, primary 18 (sequence analysis of HEATR2 gene). By CGC Genetics in Portugal. DNAAF5 Specificity 100 % Genes 3 %
Primary ciliary dyskinesia type 18. By Centogene AG - the Rare Disease Company in Germany. DNAAF5 Specificity 100 % Genes 3 %
Single gene testing HEATR2. By CeGaT GmbH in Germany. DNAAF5 Specificity 100 % Genes 3 %
HEATR2. By Fulgent Genetics Fulgent Genetics in United States. DNAAF5 Specificity 100 % Genes 3 %
DNAAF5. By Fulgent Genetics Fulgent Genetics in United States. DNAAF5 Specificity 100 % Genes 3 %
Primary Ciliary Dyskinesia (PCD) via the DNAAF5 (HEATR2) Gene. By PreventionGenetics PreventionGenetics in United States. DNAAF5 Specificity 100 % Genes 3 %
Ciliary dyskinesia, primary 14 (sequence analysis of CCDC39 gene). By CGC Genetics in Portugal. CCDC39 Specificity 100 % Genes 3 %
Primary Ciliary Dyskinesia (PCD) via the CCDC39 Gene. By PreventionGenetics PreventionGenetics in United States. CCDC39 Specificity 100 % Genes 3 %
Primary ciliary dyskinesia type 14. By Centogene AG - the Rare Disease Company in Germany. CCDC39 Specificity 100 % Genes 3 %
Primary Ciliary Dyskinesia 14: CCDC39-Related Primary Ciliary Dyskinesia. By MVZ Dortmund Dr. Eberhard & Partner in Germany. CCDC39 Specificity 100 % Genes 3 %
CCDC39. By Fulgent Genetics Fulgent Genetics in United States. CCDC39 Specificity 100 % Genes 3 %
Primary Ciliary Dyskinesia (PCD) via PIH1D3 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. PIH1D3 Specificity 100 % Genes 3 %
Epilepsy Advanced Sequencing and CNV Evaluation. By Athena Diagnostics Inc in United States. IQSEC2, ATRX, SMS, OFD1, SERPINI1, KIF1BP, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, PNKP, SPTAN1, PLCB1, ANKRD11, PIGV, PIGN, DYRK1A , (...) View the complete list with 214 more genes Panel GTR000559466 complete gene list IQSEC2, ATRX, SMS, OFD1, SERPINI1, KIF1BP, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, PNKP, SPTAN1, PLCB1, ANKRD11, PIGV, PIGN, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, KANSL1, ST3GAL3, WDR45, GNAO1, SZT2, NEXMIF, NR2F1, DOCK7, SLC13A5, KCNB1, PURA, SNAP25, SIK1, DNM1, KCNA2, EEF1A2, SPATA5, TBL1XR1, SETD2, HNRNPU, MAGI2, CACNA2D2, RBFOX1, CACNA2D1, KMT2D, ATP13A2, MFSD8, DNAJC5, CTSF, TUBB2B, SRPX2, STIL, ADGRG1, PAFAH1B1, TSEN54, FLNA, TUBA8, RELN, SIX3, RAB3GAP1, PQBP1, NDE1, QARS, EMX2, DCX, DEAF1, CENPJ, ARFGEF2, COL4A1, BCKDK, PIGO, BRAT1, PRRT2, DEPDC5, PRIMA1, TBC1D24, ASAH1, ALG13, SLC4A10, SCN5A, SCARB2, KCNMA1, MBD5, LMNB2, HCN4, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, SCN3A, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, GABRD, GABRB2, FOLR1, SLC6A1, SLC35A2, STX1B, SYNJ1, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, PRICKLE2, PRICKLE1, KCNH2, KCTD7, NHLRC1, ATP2A2, LBR, TBX1, VPS13A, GFAP, VPS13B, TREX1, ZEB2, SETBP1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, GOSR2, GABRB3, LGI1, CRH, EFHC1, CPA6, CHRNB2, CACNA1H, ATP1A3, ATP1A2, ASPM, MCPH1, LARGE1, LAMA2, CACNB4, KCNA1, POMT1, POMT2, DYNC1H1, CASR, KCNJ11, CACNA1A, FKRP, NOTCH3, SCN1A, CSTB, DPYD, PLA2G6, PHGDH, CLN5, POMGNT1, PEX7, PPT1, FKTN, CLN8, CLN6, GPC3, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, TSC2, WDR62, SLC2A1, RAI1, PLP1, PCDH19, MEF2C, FOXG1, CHRNA7, CDKL5, ARX, FGFR3, SLC6A8, WWOX, CLN3, TPP1, CYP27A1, L2HGDH, NDUFA1, ALDH7A1, SLC9A6, AMT, GLDC, GRN, ALG9, SLC25A22, CTSD, TUBA1A, SUCLA2, STXBP1, GATM, GAMT, ABAT, LIAS, MECP2, PANK2, SLC25A19, POLG, SHH, ADGRV1, HPRT1, HSD17B10, ATP6V0A2, CPT2, PAX6, ADSL, ALPL, UBE3A Specificity 1 % Genes 3 %
Epilepsy Advanced Sequencing and CNV Evaluation - Intellectual Disability. By Athena Diagnostics Inc in United States. GFAP, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, DYRK1A, WDR45 , (...) View the complete list with 36 more genes Panel GTR000559478 complete gene list GFAP, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, DYRK1A, WDR45, NEXMIF, PURA, SNAP25, EEF1A2, SPATA5, SETD2, HNRNPU, RBFOX1, CACNA2D1, SRPX2, PQBP1, DCX, DEAF1, BCKDK, ALG13, GRIN2B, GABRB2, FOLR1, SLC35A2, DPYD, GPC3, SMC1A, PLP1, PCDH19, CHRNA7, CDKL5, ARX, SLC6A8, SLC9A6, ALG9, GATM, GAMT, ABAT, MECP2, HSD17B10, ADSL Specificity 2 % Genes 3 %
X-Linked Intellectual Disabilities Deletion/Duplication. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. PGK1, CNKSR2, CCDC22, FRMPD4, IL1RAPL1, NSDHL, NAA10, SOX3, SLC16A2, CLIC2, BRWD3, ZDHHC9, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, UPF3B , (...) View the complete list with 68 more genes Panel GTR000552379 complete gene list PGK1, CNKSR2, CCDC22, FRMPD4, IL1RAPL1, NSDHL, NAA10, SOX3, SLC16A2, CLIC2, BRWD3, ZDHHC9, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, UPF3B, UBE2A, TSPAN7, DLG3, DKC1, FANCB, ZNF711, LAMP2, MBTPS2, AFF2, HUWE1, IGBP1, PHF8, NLGN3, NLGN4X, AP1S2, MED12, MID1, PTCHD1, PRPS1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, NEXMIF, FLNA, PQBP1, DCX, L1CAM, GPC3, SMC1A, PORCN, PLP1, PCDH19, IDS, DMD, CDKL5, ARX, NDUFA1, BCOR, SLC9A6, ACSL4, MAOA, TIMM8A, GK, PDHA1, HCCS, OTC, MECP2, NHS, HPRT1, NDP, OCRL, HSD17B10, ATP7A, FMR1 Specificity 2 % Genes 3 %
Joubert/Meckel-Gruber syndrome Panel. By Genetic Services Laboratory University of Chicago in United States. CSPP1, PDE6D, KIF14, TMEM107, CEP120, CEP104, KIAA0556, IFT172, TCTN3, B9D2, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B , (...) View the complete list with 13 more genes Panel GTR000500621 complete gene list CSPP1, PDE6D, KIF14, TMEM107, CEP120, CEP104, KIAA0556, IFT172, TCTN3, B9D2, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, KIAA0586, TMEM231, OFD1, AHI1, TMEM216, MKS1, CEP290, NPHP1, NPHP3, TMEM67, CC2D2A, INPP5E Specificity 4 % Genes 3 %
Macrocephaly Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago in United States. RIN2, HEPACAM, TBC1D7, RNF125, NFIA, HERC1, KPTN, GLI3, RNF135, EZH2, NFIX, BRWD3, UPF3B, MED12, RAB39B, CUL4B, OFD1, SETD2, GPC3, NSD1 , (...) View the complete list with 1 more genes Panel GTR000560750 complete gene list RIN2, HEPACAM, TBC1D7, RNF125, NFIA, HERC1, KPTN, GLI3, RNF135, EZH2, NFIX, BRWD3, UPF3B, MED12, RAB39B, CUL4B, OFD1, SETD2, GPC3, NSD1, PTEN Specificity 5 % Genes 3 %
Non-Specific Intellectual Disability Panel. By Genetic Services Laboratory University of Chicago in United States. CA8, CC2D1A, CRBN, GRIK2, MAN1B1, PRSS12, TRAPPC9, ZC3H14, ZNF526, ZNF674, CDH15, SOBP, C12orf57, LINS1, LRP2, MED23, SLC25A1, KPTN, PACS1, VLDLR , (...) View the complete list with 153 more genes Panel GTR000500162 complete gene list CA8, CC2D1A, CRBN, GRIK2, MAN1B1, PRSS12, TRAPPC9, ZC3H14, ZNF526, ZNF674, CDH15, SOBP, C12orf57, LINS1, LRP2, MED23, SLC25A1, KPTN, PACS1, VLDLR, NRXN2, AP4M1, AP4E1, AP4B1, AP4S1, ERLIN2, DDHD2, PGAP1, ARID1A, SMARCB1, SMARCA4, SOX11, DNMT3A, PCNT, NSUN2, CCDC22, FRMPD4, EIF2S3, KLF8, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SLC16A2, CLIC2, BRWD3, ZDHHC9, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, UPF3B, UBE2A, TSPAN7, DLG3, ZNF41, ZNF711, MAGT1, AFF2, AGTR2, HCFC1, HUWE1, IGBP1, PHF8, NLGN3, NLGN4X, CTNNB1, ARID1B, AP1S2, EHMT1, FOXP1, KIRREL3, MED12, MID1, ADNP, PTCHD1, PRPS1, SHANK2, SHANK3, VPS13B, ZEB2, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, IQSEC2, ATRX, SMS, OFD1, CNTNAP2, TCF4, KCNJ10, DYRK1A, GRIN1, NRXN1, ST3GAL3, NEXMIF, PURA, SRPX2, FLNA, PQBP1, DCX, DEAF1, MBD5, GRIN2A, GRIN2B, SCN2A, DYNC1H1, KIF1A, L1CAM, SMC1A, SYNGAP1, RAI1, PLP1, PCDH19, MEF2C, FOXG1, TECR, ANK3, CACNG2, CTCF, EPB41L1, GATAD2B, ZNF407, ADAT3, CLIP1, CRADD, EZR, FBXO31, FMN2, WASHC4, KIF4A, METTL23, MID2, NDST1, SETD5, SLC6A17, TAF2, TTI2, ZMYND11, CDKL5, ARX, SLC6A8, L2HGDH, ALDH5A1, BCOR, SLC9A6, ACSL4, MAOA, PDHA1, D2HGDH, ALG6, TUSC3, TUBA1A, STXBP1, IDH2, MECP2, NHS, HPRT1, OCRL, HSD17B10, UBE3A, FMR1 Specificity 1 % Genes 3 %
X-linked Non-Specific Intellectual Disability Panel. By Genetic Services Laboratory University of Chicago in United States. ZNF674, CCDC22, FRMPD4, EIF2S3, KLF8, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SLC16A2, CLIC2, BRWD3, ZDHHC9, RPL10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15 , (...) View the complete list with 59 more genes Panel GTR000500155 complete gene list ZNF674, CCDC22, FRMPD4, EIF2S3, KLF8, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SLC16A2, CLIC2, BRWD3, ZDHHC9, RPL10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, UPF3B, UBE2A, TSPAN7, DLG3, ZNF41, ZNF711, MAGT1, AFF2, AGTR2, HCFC1, HUWE1, IGBP1, PHF8, NLGN3, NLGN4X, AP1S2, MED12, MID1, PTCHD1, PRPS1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, IQSEC2, ATRX, SMS, OFD1, NEXMIF, SRPX2, FLNA, PQBP1, DCX, L1CAM, SMC1A, PLP1, PCDH19, CDKL5, ARX, SLC6A8, BCOR, SLC9A6, ACSL4, MAOA, PDHA1, MECP2, NHS, HPRT1, OCRL, HSD17B10, FMR1 Specificity 2 % Genes 3 %
Ataxia Exome Panel. By Genetic Services Laboratory University of Chicago in United States. PIGG, CHAMP1, THG1L, VWA3B, CWF19L1, WDR73, TMEM240, SNX14, APOPT1, CHCHD10, PRDM8, PET100, RNF170, POLR3B, POLR3A, WDR81, COA5, ZNF592, XPA, TRNT1 , (...) View the complete list with 460 more genes Panel GTR000553853 complete gene list PIGG, CHAMP1, THG1L, VWA3B, CWF19L1, WDR73, TMEM240, SNX14, APOPT1, CHCHD10, PRDM8, PET100, RNF170, POLR3B, POLR3A, WDR81, COA5, ZNF592, XPA, TRNT1, UROC1, PMPCA, RUBCN, COQ4, SLC52A3, SLC9A1, MAPK10, YME1L1, LMNB1, ITM2B, FGF12, DGAT2, ARV1, STUB1, PUM1, OTUD4, NAT8L, ZIC4, VARS, TDP2, TRPC3, TELO2, SLC6A19, RNF168, ERCC5, SCYL1, RNF216, RNASEH1, RTN4IP1, ELOVL5, PTRH2, DMXL2, PCNA, PIK3R5, NOL3, GRID2, LAMA1, SLC52A2, EBF3, COL18A1, DOCK3, ATCAY, BEAN1, CAMTA1, CACNA1G, CTBP1, ATP2B3, ATP8A2, RARS, NAXE, AAAS, NUP62, UBA5, MECR, COX20, TBCE, SEPSECS, XRCC4, ZIC1, CA8, CCDC88C, ARL6IP1, IBA57, TUBB, LRP4, DNAJC3, HEPACAM, HERC1, CSPP1, PDE6D, TMEM107, CEP120, CEP104, KIAA0556, SAMD9L, TCTN3, PGM3, SLC25A46, ADA2, SLC39A4, GSS, GCLC, LIG4, ERCC8, APOB, SLC20A2, TPK1, SLC46A1, PRNP, COG4, MT-TP, SCO1, COX10, MARS2, VLDLR, EOMES, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, ERCC4, CP, FTL, GJA1, CTC1, RNASET2, HNRNPH2, PGK1, CTDP1, AP4M1, AP4E1, AP4B1, AP4S1, ERLIN2, DDHD1, TECPR2, DDHD2, CYP2U1, GBA2, TUBB4A, B4GALNT1, UCHL1, C19orf12, KIF1C, NT5C2, ENTPD1, CPT1C, MAG, HACE1, CAPN1, KIDINS220, ERLIN1, ERCC6, CHMP1A, PIEZO2, GMPPB, FBXL4, NKX2-1, CAV1, IFT140, GAN, LRSAM1, MME, NALCN, TSEN2, TSEN34, EXOSC3, CLCN2, SLC16A2, DKC1, NEU1, MVK, PEX10, PEX26, PEX16, KIAA0586, AP1S2, PRPS1, SLC19A2, SOX10, DNMT1, POLR1C, ERCC3, CLPP, HTRA1, GFAP, CUL4B, CASK, OPHN1, OFD1, TCF4, KCNJ10, PNKP, SPTAN1, SCN8A, ROGDI, SLC13A5, SNAP25, KCNA2, ATP13A2, MFSD8, DNAJC5, CTSF, ADGRG1, TSEN54, RELN, DCX, BRAT1, PRRT2, TBC1D24, SCARB2, MBD5, LMNB2, EPM2A, KCNC1, KCNQ2, HCN1, FOLR1, SLC6A1, SCN2A, SLC19A3, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, GABRB3, ATP1A3, ATP1A2, LARGE1, POMGNT2, SPTBN2, TTBK2, TGM6, FGF14, PDYN, ITPR1, KCNC3, KCND3, EEF2, VAMP1, GRM1, SIL1, TDP1, ANO10, SYT14, SLC1A3, CACNB4, KCNA1, ISPD, POMT1, POMT2, TRAPPC11, SYNE1, VRK1, DYNC1H1, SETX, ALS2, SPG21, SPART, FA2H, AP5Z1, CYP7B1, KIF1A, PNPLA6, RTN2, BSCL2, SLC33A1, NIPA1, L1CAM, KIF5A, SPAST, GCH1, CACNA1A, FKRP, AHI1, SCN1A, CSTB, SPG11, EIF2B4, EIF2B2, EIF2B3, ZFYVE26, ATL1, GJB1, DNM2, EGR2, PMP22, MPZ, SH3TC2, PRX, TMEM216, PLA2G6, EIF2B5, CLN5, TTPA, SUMF1, SLC17A5, POMGNT1, PEX1, MLC1, TH, SACS, PEX7, PPT1, PEX2, FKTN, CLN8, CLN6, PRF1, SDHD, NF2, MRE11, ATM, WDR62, TINF2, SLC2A1, PLP1, PCDH19, NPC2, NPC1, GJC2, FOXG1, EIF2B1, CDKL5, ARSA, PNP, SDHA, MTFMT, FARS2, TACO1, SOD1, PNKD, WWOX, TPP1, ASL, APTX, MKS1, PMM2, CYP27A1, ASS1, COX6B1, FASTKD2, LRPPRC, FXN, GBE1, L2HGDH, GALC, DLAT, SUCLG1, DBT, HIBCH, NDUFAF5, NDUFS2, NDUFS6, NDUFV2, NDUFV1, NDUFS1, NDUFAF4, NDUFA11, NDUFA1, NDUFAF3, SDHAF1, NDUFAF6, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, CTSA, MPV17, PTS, PHYH, HEXB, ALDH5A1, SUOX, HEXA, TCN2, MMADHC, ABCD1, SLC9A6, ABCB7, PDHA1, OTC, SQSTM1, ETHE1, TYMP, ALG6, SPG7, COQ2, GRN, DPM1, FLVCR1, MPDU1, CTSD, DNAJC19, REEP1, TSFM, DARS2, RARS2, TUBA1A, RFT1, COQ8A, STXBP1, SPR, GAMT, GPI, NUBPL, NDUFA10, MTPAP, TTC19, NDUFAF1, TMEM70, PDHB, ALDH18A1, COX14, NDUFA9, NDUFB3, HARS, NDUFA12, ACO2, COQ6, PDSS1, PDSS2, COQ9, MECP2, OPA3, PANK2, KIF1B, NDUFAF2, RRM2B, FOXRED1, AFG3L2, HSPD1, NDUFS4, POLG, DLD, CEP290, NPHP1, TMEM67, ELOVL4, CC2D2A, GLB1, PSAP, WFS1, OPA1, CPS1, HSD17B4, AMACR, INPP5E, PSEN1, PAX6, PRKCG, ADSL, C12orf65, TWNK, BCS1L, BCKDHB, BCKDHA, AUH, ATPAF2, ATP7B, BTD, HLCS, UQCRB, UQCRQ, PC, ABHD12, AARS2, UBE3A, TTR, FMR1 Specificity 1 % Genes 3 %
OFD1 Remaining Exons Sequencing. By GeneDx in United States. OFD1 Specificity 100 % Genes 3 %
CustomNext: Neuro. By Ambry Genetics in United States. KAT6A, DDX3X, POGZ, CA8, CC2D1A, MAN1B1, TRAPPC9, LINS1, MED23, CTCF, PACS1, KATNAL2, SATB2, AP4B1, SMARCA2, SMARCB1, SMARCA4, NSUN2, SLC16A2, BRWD3 , (...) View the complete list with 176 more genes Panel GTR000560527 complete gene list KAT6A, DDX3X, POGZ, CA8, CC2D1A, MAN1B1, TRAPPC9, LINS1, MED23, CTCF, PACS1, KATNAL2, SATB2, AP4B1, SMARCA2, SMARCB1, SMARCA4, NSUN2, SLC16A2, BRWD3, RPL10, RPS6KA3, FTSJ1, GDI1, ZC4H2, UPF3B, UBE2A, DLG3, LAMP2, HUWE1, PHF8, NLGN3, NLGN4X, ARID1B, TBR1, HOXA1, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, MED12, MID1, ADNP, PTCHD1, SHANK3, VPS13B, ZEB2, RAB39B, CUL4B, CASK, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, ANKRD11, PIGN, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ST3GAL3, WDR45, GNAO1, SZT2, NEXMIF, SLC13A5, PURA, SNAP25, SIK1, DNM1, KCNA2, EEF1A2, TBL1XR1, HNRNPU, ATP13A2, MFSD8, DNAJC5, CTSF, FLNA, PQBP1, DCX, PRRT2, DEPDC5, TBC1D24, ALG13, SCARB2, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, FOLR1, SLC6A1, SLC35A2, STX1B, SCN2A, SCN1B, PRICKLE1, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, CRH, CHRNB2, ATP1A2, DYNC1H1, KIF1A, L1CAM, CACNA1A, SCN1A, CSTB, CLN5, PPT1, CLN8, CLN6, GPC3, NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, RAD21, TSC2, HDAC8, SLC2A1, RAI1, PTPN11, PORCN, PLP1, PCDH19, MEF2C, IDS, FOXG1, DHCR7, CREBBP, CHD7, CDKL5, ARX, SLC6A8, CLN3, TPP1, NDUFA1, ALDH7A1, ABCD1, SLC9A6, ACSL4, MAOA, TIMM8A, PDHA1, OTC, GRN, SLC25A22, CTSD, TUSC3, STXBP1, GATM, GAMT, MECP2, POLG, NHS, HPRT1, NDP, OCRL, ATP7A, PTEN, UBE3A, FMR1 Specificity 1 % Genes 3 %
Neurodevelopment-Expanded. By Ambry Genetics in United States. KAT6A, DDX3X, POGZ, CA8, CC2D1A, MAN1B1, TRAPPC9, LINS1, MED23, CTCF, PACS1, KATNAL2, SATB2, AP4B1, SMARCA2, SMARCB1, SMARCA4, NSUN2, SLC16A2, BRWD3 , (...) View the complete list with 176 more genes Panel GTR000560603 complete gene list KAT6A, DDX3X, POGZ, CA8, CC2D1A, MAN1B1, TRAPPC9, LINS1, MED23, CTCF, PACS1, KATNAL2, SATB2, AP4B1, SMARCA2, SMARCB1, SMARCA4, NSUN2, SLC16A2, BRWD3, RPL10, RPS6KA3, FTSJ1, GDI1, ZC4H2, UPF3B, UBE2A, DLG3, LAMP2, HUWE1, PHF8, NLGN3, NLGN4X, ARID1B, TBR1, HOXA1, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, MED12, MID1, ADNP, PTCHD1, SHANK3, VPS13B, ZEB2, RAB39B, CUL4B, CASK, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, ANKRD11, PIGN, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ST3GAL3, WDR45, GNAO1, SZT2, NEXMIF, SLC13A5, PURA, SNAP25, SIK1, DNM1, KCNA2, EEF1A2, TBL1XR1, HNRNPU, ATP13A2, MFSD8, DNAJC5, CTSF, FLNA, PQBP1, DCX, PRRT2, DEPDC5, TBC1D24, ALG13, SCARB2, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, FOLR1, SLC6A1, SLC35A2, STX1B, SCN2A, SCN1B, PRICKLE1, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, CRH, CHRNB2, ATP1A2, DYNC1H1, KIF1A, L1CAM, CACNA1A, SCN1A, CSTB, CLN5, PPT1, CLN8, CLN6, GPC3, NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, RAD21, TSC2, HDAC8, SLC2A1, RAI1, PTPN11, PORCN, PLP1, PCDH19, MEF2C, IDS, FOXG1, DHCR7, CREBBP, CHD7, CDKL5, ARX, SLC6A8, CLN3, TPP1, NDUFA1, ALDH7A1, ABCD1, SLC9A6, ACSL4, MAOA, TIMM8A, PDHA1, OTC, GRN, SLC25A22, CTSD, TUSC3, STXBP1, GATM, GAMT, MECP2, POLG, NHS, HPRT1, NDP, OCRL, ATP7A, PTEN, UBE3A, FMR1 Specificity 1 % Genes 3 %
IDNext. By Ambry Genetics in United States. KAT6A, DDX3X, CA8, CC2D1A, MAN1B1, TRAPPC9, LINS1, MED23, CTCF, PACS1, SATB2, AP4B1, SMARCA2, SMARCB1, SMARCA4, NSUN2, SLC16A2, BRWD3, RPL10, RPS6KA3 , (...) View the complete list with 120 more genes Panel GTR000560575 complete gene list KAT6A, DDX3X, CA8, CC2D1A, MAN1B1, TRAPPC9, LINS1, MED23, CTCF, PACS1, SATB2, AP4B1, SMARCA2, SMARCB1, SMARCA4, NSUN2, SLC16A2, BRWD3, RPL10, RPS6KA3, FTSJ1, GDI1, ZC4H2, UPF3B, UBE2A, DLG3, LAMP2, HUWE1, PHF8, NLGN3, NLGN4X, ARID1B, TBR1, HOXA1, CHD8, AP1S2, EHMT1, FOXP1, FOXP2, MED12, MID1, ADNP, PTCHD1, VPS13B, ZEB2, RAB39B, CUL4B, CASK, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, CNTNAP2, TCF4, KCNJ10, PNKP, ANKRD11, PIGN, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ST3GAL3, WDR45, GNAO1, NEXMIF, PURA, DNM1, HNRNPU, FLNA, PQBP1, DCX, DEPDC5, ALG13, MBD5, GRIN2A, CHD2, PNPO, HCN1, GRIN2B, FOLR1, STX1B, SCN2A, DYNC1H1, KIF1A, L1CAM, CACNA1A, PPT1, GPC3, NSD1, NIPBL, SMC1A, SMC3, SYNGAP1, RAD21, HDAC8, SLC2A1, RAI1, PTPN11, PORCN, PLP1, PCDH19, MEF2C, IDS, FOXG1, CREBBP, CHD7, CDKL5, ARX, SLC6A8, NDUFA1, ABCD1, SLC9A6, ACSL4, MAOA, TIMM8A, PDHA1, OTC, SLC25A22, TUSC3, GATM, GAMT, MECP2, NHS, HPRT1, NDP, OCRL, ATP7A, PTEN, UBE3A, FMR1 Specificity 1 % Genes 3 %
OFD1. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. OFD1 Specificity 100 % Genes 3 %
Oral-facial-digital syndrome 1 (sequence analysis of OFD1 gene). By CGC Genetics in Portugal. OFD1 Specificity 100 % Genes 3 %
Mental retardation, X-linked (NGS panel for 89 genes). By CGC Genetics in Portugal. KIF4A, MID2, PGK1, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, SOX3, SLC16A2, CLIC2, BRWD3, ZDHHC9, SHROOM4, RPS6KA3, FTSJ1, GDI1, USP9X, UPF3B, UBE2A, TSPAN7 , (...) View the complete list with 69 more genes Panel GTR000525709 complete gene list KIF4A, MID2, PGK1, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, SOX3, SLC16A2, CLIC2, BRWD3, ZDHHC9, SHROOM4, RPS6KA3, FTSJ1, GDI1, USP9X, UPF3B, UBE2A, TSPAN7, DLG3, DKC1, FANCB, ZNF711, LAMP2, MBTPS2, AFF2, HCFC1, HUWE1, IGBP1, PHF8, NLGN4X, AP1S2, MED12, MID1, PRPS1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, NEXMIF, SRPX2, FLNA, PQBP1, DCX, L1CAM, GPC3, SMC1A, HDAC8, PORCN, PLP1, PCDH19, IDS, DMD, CDKL5, ARX, SLC6A8, NDUFA1, ABCD1, BCOR, SLC9A6, ACSL4, MAOA, TIMM8A, GK, PDHA1, HCCS, OTC, MECP2, NHS, HPRT1, NDP, OCRL, HSD17B10, ATP7A, FMR1 Specificity 2 % Genes 3 %
Joubert and Meckel-Gruber Syndromes Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. ZNF423, CSPP1, PDE6D, KIF14, TCTN3, B9D2, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, TMEM231, OFD1, AHI1 , (...) View the complete list with 8 more genes Panel GTR000505675 complete gene list ZNF423, CSPP1, PDE6D, KIF14, TCTN3, B9D2, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, TMEM231, OFD1, AHI1, TMEM216, MKS1, CEP290, NPHP1, NPHP3, TMEM67, CC2D2A, INPP5E Specificity 4 % Genes 3 %
Hereditary Cystic Kidney Diseases Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. MAPKBP1, GANAB, SEC61A1, DZIP1L, DNAJB11, DICER1, MUC1, CRB2, ANKS6, CEP83, ZNF423, CEP164, IFT172, NOTCH2, GLIS2, NEK8, RPGRIP1L, TTC21B, SDCCAG8, WDR19 , (...) View the complete list with 21 more genes Panel GTR000561677 complete gene list MAPKBP1, GANAB, SEC61A1, DZIP1L, DNAJB11, DICER1, MUC1, CRB2, ANKS6, CEP83, ZNF423, CEP164, IFT172, NOTCH2, GLIS2, NEK8, RPGRIP1L, TTC21B, SDCCAG8, WDR19, DCDC2, OFD1, COL4A1, PKD1, PKD2, UMOD, PKHD1, TSC1, TSC2, PAX2, IQCB1, NPHP4, CEP290, NPHP1, NPHP3, TMEM67, JAG1, HNF1B, LRP5, INVS, VHL Specificity 3 % Genes 3 %
Polycystic kidney disease and related disorders NGS panel. By Connective Tissue Gene Tests in United States. BICC1, GANAB, SEC61A1, MUC1, ANKS6, ZNF423, NOTCH2, ATP6V0A4, GLIS3, TMEM231, OFD1, PKD1, PKD2, UMOD, PKHD1, TSC1, TSC2, ALG9, NPHP3, HNF1B , (...) View the complete list with 2 more genes Panel GTR000559329 complete gene list BICC1, GANAB, SEC61A1, MUC1, ANKS6, ZNF423, NOTCH2, ATP6V0A4, GLIS3, TMEM231, OFD1, PKD1, PKD2, UMOD, PKHD1, TSC1, TSC2, ALG9, NPHP3, HNF1B, LRP5, INVS Specificity 5 % Genes 3 %
Polycystic kidney disease and related disorders Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. BICC1, GANAB, SEC61A1, MUC1, ANKS6, ZNF423, NOTCH2, ATP6V0A4, GLIS3, TMEM231, OFD1, PKD1, PKD2, UMOD, PKHD1, TSC1, TSC2, ALG9, NPHP3, HNF1B , (...) View the complete list with 2 more genes Panel GTR000559407 complete gene list BICC1, GANAB, SEC61A1, MUC1, ANKS6, ZNF423, NOTCH2, ATP6V0A4, GLIS3, TMEM231, OFD1, PKD1, PKD2, UMOD, PKHD1, TSC1, TSC2, ALG9, NPHP3, HNF1B, LRP5, INVS Specificity 5 % Genes 3 %
Overgrowth syndrome Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. EED, PDGFRB, EZH2, NFIX, DNMT3A, OFD1, PIGA, SETD2, GPC3, NSD1, FBN1 Specificity 10 % Genes 3 %
Polycystic kidney disease and related disorders Comprehensive panel. By Connective Tissue Gene Tests in United States. BICC1, GANAB, SEC61A1, MUC1, ANKS6, ZNF423, NOTCH2, ATP6V0A4, GLIS3, TMEM231, OFD1, PKD1, PKD2, UMOD, PKHD1, TSC1, TSC2, ALG9, NPHP3, HNF1B , (...) View the complete list with 2 more genes Panel GTR000559426 complete gene list BICC1, GANAB, SEC61A1, MUC1, ANKS6, ZNF423, NOTCH2, ATP6V0A4, GLIS3, TMEM231, OFD1, PKD1, PKD2, UMOD, PKHD1, TSC1, TSC2, ALG9, NPHP3, HNF1B, LRP5, INVS Specificity 5 % Genes 3 %
Nephronophthisis and related disorders NGS panel. By Connective Tissue Gene Tests in United States. TRAF3IP1, MAPKBP1, FAN1, ANKS6, CEP83, ZNF423, CEP164, GLIS2, CEP41, NEK8, RPGRIP1L, TMEM138, TTC21B, SDCCAG8, WDR19, DCDC2, OFD1, AHI1, TMEM216, PKHD1 , (...) View the complete list with 9 more genes Panel GTR000560978 complete gene list TRAF3IP1, MAPKBP1, FAN1, ANKS6, CEP83, ZNF423, CEP164, GLIS2, CEP41, NEK8, RPGRIP1L, TMEM138, TTC21B, SDCCAG8, WDR19, DCDC2, OFD1, AHI1, TMEM216, PKHD1, IQCB1, XPNPEP3, NPHP4, CEP290, NPHP1, NPHP3, TMEM67, CC2D2A, INVS Specificity 4 % Genes 3 %
Joubert syndrome and related disorders NGS panel. By Connective Tissue Gene Tests in United States. ARMC9, PIBF1, ZNF423, CSPP1, PDE6D, KIF14, TMEM107, CEP120, CEP104, KIAA0556, C2CD3, TCTN3, B9D2, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2 , (...) View the complete list with 17 more genes Panel GTR000560982 complete gene list ARMC9, PIBF1, ZNF423, CSPP1, PDE6D, KIF14, TMEM107, CEP120, CEP104, KIAA0556, C2CD3, TCTN3, B9D2, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, KIAA0586, TMEM231, OFD1, AHI1, TMEM216, SUFU, MKS1, CEP290, NPHP1, NPHP3, TMEM67, CC2D2A, INPP5E Specificity 3 % Genes 3 %
Joubert syndrome and related disorders Comprehensive panel. By Connective Tissue Gene Tests in United States. ARMC9, PIBF1, ZNF423, CSPP1, PDE6D, KIF14, TMEM107, CEP120, CEP104, KIAA0556, C2CD3, TCTN3, B9D2, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2 , (...) View the complete list with 17 more genes Panel GTR000560985 complete gene list ARMC9, PIBF1, ZNF423, CSPP1, PDE6D, KIF14, TMEM107, CEP120, CEP104, KIAA0556, C2CD3, TCTN3, B9D2, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, KIAA0586, TMEM231, OFD1, AHI1, TMEM216, SUFU, MKS1, CEP290, NPHP1, NPHP3, TMEM67, CC2D2A, INPP5E Specificity 3 % Genes 3 %
Mental retardation - different panels. By Institute of Human Genetics Cologne University in Germany. EEF1B2, UBR7, PARP1, CAPN10, SLC31A1, TRMT1, PGAP2, GMPPA, TANGO2, IMPA1, RALGDS, ZBTB40, KCNK9, SETD1A, HERC2, TM4SF20, AHDC1, CCDC88A, ACBD6, KDM5A , (...) View the complete list with 847 more genes Panel GTR000558415 complete gene list EEF1B2, UBR7, PARP1, CAPN10, SLC31A1, TRMT1, PGAP2, GMPPA, TANGO2, IMPA1, RALGDS, ZBTB40, KCNK9, SETD1A, HERC2, TM4SF20, AHDC1, CCDC88A, ACBD6, KDM5A, WAC, CNKSR1, HIST3H3, ASCC3, GPT2, TMEM135, RABL6, SLC25A16, HIKESHI, ZCCHC8, INPP4A, GEMIN4, FRMD4A, CASP2, CKAP2L, PECR, PGAP3, MEIS2, KDM6B, CCNA2, KRBOX4, ADRA2B, SCAPER, SLC39A6, GON4L, HIST1H4B, HNRNPK, APC2, GTF2E2, RSPRY1, SFXN4, RMND1, ITPA, SNX27, FASN, PPP2R1A, GABBR2, TCF20, TRIP12, DCPS, MYT1L, MED13L, TRIO, ELP2, ISCA2, JAM3, KDM1A, DDX59, DARS, USP27X, KLHL15, RLIM, KCNH1, CAD, NECTIN1, UPB1, UNC80, SC5D, FAR1, MFF, RNF113A, SMOC1, MAB21L2, HMGB3, CLP1, FTO, ERCC1, TMCO1, STT3A, STT3B, AIMP1, UBE3B, SSR4, GPHN, RBM28, PIGT, SLC12A5, HDAC4, COLEC11, IGF1, KAT6A, DDX3X, POGZ, PEX11B, COL4A2, DHFR, FAM126A, PEPD, CA5A, GTF2H5, MPLKIP, AP1S1, BUB1B, ZSWIM6, PIGG, CHAMP1, WDR73, SNX14, APOPT1, PET100, POLR3B, POLR3A, WDR81, XPA, PMPCA, COQ4, ERCC5, SCYL1, PTRH2, LAMA1, COL18A1, CACNA1G, ACY1, BCAP31, KMT2B, CLPB, SERAC1, SLC1A4, PPP1R15B, TBCE, TUBGCP6, ASXL3, TUBGCP4, PYCR2, POC1A, LARP7, PLK4, GMNN, ORC1, TCF12, MEGF8, DPH1, CA8, CC2D1A, ANK3, CTCF, GATAD2B, ADAT3, CRADD, FBXO31, FMN2, KIF4A, METTL23, MID2, NDST1, SETD5, SLC6A17, TAF2, TTI2, ZMYND11, CEP63, CEP135, CDK6, CENPE, MFSD2A, MED17, SLC25A1, LAMB1, MPDZ, CCDC88C, PTDSS1, PDE4D, SNAP29, ASNS, KIF2A, KIF5C, TUBG1, KATNB1, CDK5, FRAS1, DNMT3B, ESCO2, RTTN, TBC1D20, CEP83, ZNF423, ZBTB20, TRMT10A, HEPACAM, TBC1D7, RNF125, KPTN, CSPP1, PDE6D, CEP104, KIAA0556, SRCAP, AFF4, PRMT7, IFT172, AGPAT2, KCNJ6, OCLN, UBR1, MICU1, TCTN3, PGM3, PACS1, PIK3R1, EPG5, PRKRA, GSS, TPI1, LIG4, ERCC8, AKT3, PIK3R2, B3GLCT, RARB, STIM1, RAB27A, MYO5A, DHCR24, EIF2AK3, SLC6A3, DDC, EARS2, MAT1A, TMEM165, COG5, COG6, ALG11, COG4, MT-TV, COX10, VLDLR, MYCN, RBBP8, IER3IP1, RAB18, PIK3CA, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, ERCC4, MASP1, AUTS2, KATNAL2, SATB2, SOX5, FANCD2, WNT1, GNAS, GNPAT, ASXL1, EFTUD2, RNASET2, EP300, THRB, DPP6, MT-CO3, MT-CO1, MT-ND5, MT-CO2, PGK1, CTDP1, KIF11, PRMT9, PPP2R5D, EXOSC2, FRY, RGS7, COL4A3BP, ADK, CCDC115, WDR45B, DIP2B, STAMBP, AP4M1, AP4E1, AP4B1, AP4S1, RAB3GAP2, ERLIN2, VPS37A, ADAR, TECPR2, DDHD2, CYP2U1, GBA2, TUBB4A, B4GALNT1, NT5C2, ENTPD1, PGAP1, IFIH1, MAG, HACE1, SMARCA2, ARID1A, SMARCB1, RRAS, RASA2, NSUN2, SPRED1, THOC2, CNKSR2, CCDC22, CLCN4, FRMPD4, EIF2S3, LAS1L, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SOX3, SLC16A2, TAF1, CLIC2, BRWD3, ZDHHC9, RAB40AL, RPL10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZC4H2, USP9X, UPF3B, UBE2A, TSPAN7, DLG3, DKC1, ZNF711, MAGT1, LAMP2, MBTPS2, AFF2, HCFC1, HUWE1, PHF8, CCBE1, NEU1, MVK, KAT6B, PEX5, PEX12, PEX10, PEX26, PEX13, KIAA0586, LZTR1, NLGN3, NLGN4X, CTNNB1, ARID1B, TMEM231, TBR1, HOXA1, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, LAMC3, MED12, MID1, ADNP, PTCHD1, FUCA1, NARS2, PEX6, PRPS1, MT-TS1, SOX10, DIAPH1, NLRP3, PNPT1, ERCC3, ERCC2, ATP6V1B2, ACTG1, ACTB, SALL1, SHANK2, SHANK3, ATP2A2, GFAP, VPS13B, TREX1, ZEB2, SETBP1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, KIF1BP, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, SAMHD1, PNKP, SPTAN1, PLCB1, ANKRD11, PIGV, PIGN, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, CRBN, GRIK2, MAN1B1, PRSS12, TRAPPC9, ZC3H14, ZNF526, CDH15, SOBP, C12orf57, LINS1, LRP2, MED23, TECR, KANSL1, ST3GAL3, WDR45, GNAO1, SZT2, NEXMIF, NR2F1, DOCK7, SLC13A5, KCNB1, PURA, SIK1, DNM1, KCNA2, EEF1A2, SPATA5, TBL1XR1, SETD2, CACNA2D2, KMT2D, ATP13A2, KCNT1, HCN1, GRIN2B, SLC6A1, SLC35A2, SCN2A, ST3GAL5, KCTD7, GABRB3, ATP1A3, ATP1A2, ASPM, MCPH1, B3GALNT2, LARGE1, CHKB, POMGNT2, DPM2, LAMA2, GRM1, SIL1, ANO10, ISPD, POMT1, POMT2, DAG1, TRAPPC11, VRK1, DYNC1H1, CCDC78, SPART, KIF1A, WASHC5, BSCL2, SLC33A1, L1CAM, KCNJ11, FGFR1, NF1, GCH1, ATXN10, FKRP, AHI1, SCN1A, SPG11, MT-ATP6, MT-TK, ZFYVE26, MT-TL1, NTRK1, FIG4, TMEM216, DPYD, PHGDH, CLN5, SLC17A5, SLC12A6, POMGNT1, PEX1, MCOLN1, TH, SLC35A3, PEX7, PPT1, FKTN, CLN8, CLN6, SMAD4, GPC3, PTCH1, NBN, NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, CBL, RAD21, TSC2, MAP2K2, RIT1, HDAC8, SOS2, FGFR2, WDR62, SOS1, SLC2A1, SHOC2, RMRP, RAI1, PTPN11, PORCN, PLP1, PCDH19, NRAS, DMPK, MEF2C, MAP2K1, KRAS, IKBKG, IDUA, IDS, HRAS, GJC2, FOXG1, DMD, DHCR7, CREBBP, CHD7, CDKL5, BRAF, BLM, ARX, ASPA, FGFR3, PNP, MGME1, HPD, MOGS, DPAGT1, DOLK, AHCY, AGA, ABCD4, SDHA, PDHX, SLC6A8, FARS2, WWOX, PPOX, HESX1, CLN3, SMARCA4, KMT2A, SMARCE1, ARID2, ERCC6, SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, GMPPB, POMK, FBXL4, EMC1, NKX2-1, SLC4A4, MAF, POC1B, MED25, AARS, DHTKD1, KDM6A, MAGEL2, ABCC9, GLI3, EZH2, NFIX, DNMT3A, ACVR1, SKI, TGFBR2, TGFBR1, DYM, NAGA, ATR, PCNT, CDK5RAP2, GLI2, CDON, CEP152, NALCN, ZIC2, TGIF1, TUBB2A, EXOSC3, MTOR, NECAP1, TPP1, SOX2, ASL, APTX, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, PMM2, MGAT2, LRPPRC, GALE, GALT, CBS, L2HGDH, SLC25A15, MLYCD, MAN2B1, MANBA, DBT, CYB5R3, MUT, MMAA, NDUFAF5, NDUFS2, NDUFV1, NDUFS1, NDUFA11, NDUFA1, MOCS1, MOCS2, SGSH, NAGLU, HGSNAT, GNS, GUSB, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, CA2, ACOX1, SLC35C1, ALDH3A2, ALDH5A1, SUOX, ABHD5, MMADHC, ABCD1, BCOR, SLC9A6, ACSL4, MAOA, AIFM1, TIMM8A, GK, PDHA1, HCCS, PUS1, D2HGDH, ALG3, STRA6, ETHE1, MPI, ALG6, GAD1, SLC35A1, SCO2, AMT, GLDC, GCSH, B4GALT1, ALG12, COQ2, GRN, ALG2, ALG8, AP3B1, ALG1, ALG9, COG7, DPM1, MPDU1, SLC25A22, CTSD, DNAJC19, HAX1, TUSC3, DARS2, COG8, COG1, TUBA1A, MRPS22, RFT1, COQ8A, STXBP1, SDHB, AK1, GATM, GAMT, PGM1, DPM3, NUBPL, TAT, CCDC28B, ACSF3, DNM1L, ALDH18A1, DDOST, NDUFA12, ACO2, PDSS1, PDSS2, MECP2, SMPD1, FH, RAF1, PANK2, NDUFS4, DLD, SHH, TRIM32, TTC8, CEP290, MKKS, NPHP1, ARL6, TMEM67, NHS, HPRT1, OTX2, NDP, ELOVL4, OCRL, HSD17B10, SRD5A3, ATP6V0A2, PRODH, CC2D2A, PYCR1, MTRR, INPP5E, MTR, PAX6, PRKCG, MMACHC, ADSL, C12orf65, MFSD8, DNAJC5, CTSF, TUBB2B, STIL, ADGRG1, PAFAH1B1, FLNA, TUBA8, RELN, SIX3, RAB3GAP1, PQBP1, NDE1, QARS, EMX2, DCX, DEAF1, CENPJ, ARFGEF2, COL4A1, PIGO, BRAT1, PRRT2, DEPDC5, PRIMA1, TBC1D24, ASAH1, ALG13, MBD5, GRIN2A, GABRA1, CHD2, KCNQ3, KCNQ2, BCS1L, BCKDHB, BCKDHA, B4GALT7, AUH, ATP7A, HLCS, ANKH, PC, ACAD9, MCCC2, MCCC1, PTEN, UBE3A, FMR1 Specificity 1 % Genes 3 %
Hereditary kidney disorders - different panels. By Institute of Human Genetics Cologne University in Germany. CLDN10, TMEM260, KANK3, SLC6A20, MAGEC1, TBC1D1, SLC41A1, SLC36A2, SLC22A10, KCNMB1, NRIP1, MAGED2, DYNC2LI1, IFT52, RMND1, MAPKBP1, MOCOS, SLC26A1, PDE3A, FN1 , (...) View the complete list with 391 more genes Panel GTR000558419 complete gene list CLDN10, TMEM260, KANK3, SLC6A20, MAGEC1, TBC1D1, SLC41A1, SLC36A2, SLC22A10, KCNMB1, NRIP1, MAGED2, DYNC2LI1, IFT52, RMND1, MAPKBP1, MOCOS, SLC26A1, PDE3A, FN1, FAN1, DSTYK, CHD1L, CDC5L, BMP7, SIX2, ARHGAP24, NUP107, NUP93, NUP205, FAT1, KANK4, XPO5, SGPL1, LAMA5, TRAP1, UPK3A, AGTR1, CFHR2, TBX18, KANK1, ALAD, EHHADH, ANLN, BICC1, ROBO2, MAFB, ARHGDIA, AGT, SOX17, EGF, CNNM2, TALDO1, HPSE2, LYZ, IL21, NFKB1, GUCY2C, DIS3L2, LRIG2, SLC26A3, HMBS, TRPM6, KL, UROD, SLC5A2, FXYD2, SLC7A9, GANAB, SEC61A1, PEX11B, SEC63, SLC2A9, EIF2AK4, LIFR, SLC22A12, CLDN19, CLDN16, WNK4, CUL3, GALNT3, MYO1E, KANK2, LAMC1, WDR73, APOPT1, COA5, SLC6A19, SERAC1, DICER1, DMP1, SLC34A3, CLCN5, ENPP1, GCM2, STX16, LRP2, REN, MUC1, CRB2, CFHR4, LRP4, WDR60, NEK1, FRAS1, CCNQ, WNT4, FREM2, GRIP1, DYNC2H1, ANKS6, CEP83, ZNF423, CEP164, CSPP1, PDE6D, KIF14, CEP120, CEP104, KIAA0556, IFT172, IFT74, TCTN3, NOTCH2, MS4A1, PRKCSH, TNFRSF13C, ICOS, HOGA1, CD81, CR2, CD19, SMARCAL1, NFKB2, ITGA3, LRBA, RBM8A, ATP6V0A4, SLC4A1, COQ8B, TNFRSF13B, IKZF1, BMP4, FREM1, VPS33B, FGA, EIF2AK3, GLIS3, SLC2A2, LCAT, B9D2, GREM1, APOA1, PCBD1, IFT122, COX10, PIK3CA, EVC2, EVC, ARL13B, GLIS2, IFT80, CPLANE1, CEP41, IFT43, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, KLHL3, CDKN1B, APOL1, ADAMTS13, DGKE, CFHR3, CFHR1, CFI, CFB, CD2AP, JAK3, SALL4, ACE, MEFV, PGK1, SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, WDR19, SLC4A4, IFT140, POC1B, KCNJ5, TNXB, MAGT1, AGTR2, PTH1R, SOX18, MVK, CLCNKA, WDR35, KAT6B, PEX5, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, KIAA0586, TMEM231, PEX6, FGF20, ITGA8, PTPRO, EMP2, WDR34, CHRM3, SLC16A12, MYH9, GATA3, SIX1, PRPS1, SIX5, DCDC2, CACNA1D, ATP6V1B1, SALL1, OFD1, KCNJ10, COL4A1, TBC1D24, SCARB2, CACNA1H, KCNA1, FGF23, PKD1, PKD2, COL4A5, SLC12A1, KCNJ1, TRPC6, CLCNKB, PLCE1, BSND, SCNN1B, SCNN1G, SCNN1A, ACTN4, SLC12A3, PHEX, AQP2, AVPR2, LAMB2, COL4A4, UMOD, INF2, HNF4A, HSD11B2, ANOS1, CASR, NF1, ATXN10, AHI1, WNK1, TMEM216, PKHD1, PEX1, MPL, GRHPR, SLC7A7, PEX7, NPHS1, NPHS2, PEX2, CTNS, COL4A3, RAD51C, CDC73, PRKAR1A, SBDS, MAX, MET, FLCN, SDHD, NF2, TSC1, TSC2, VDR, NPC1, HRAS, GLA, DHCR7, APRT, ABCD4, SDHA, TACO1, PAX2, MEN1, LMX1B, TMEM127, CYP17A1, ALMS1, ASL, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, PMM2, SLC22A5, ASS1, SLC3A1, COX6B1, FASTKD2, GALT, GCDH, ETFDH, ETFA, ETFB, PYGM, CBS, SUCLG1, MUT, MMAA, MMAB, CA2, AGXT, CUBN, PGAM2, LMBRD1, MMADHC, XDH, OTC, STRA6, PCCA, PCCB, COQ2, ALG8, HADHB, IQCB1, SUCLA2, SLC9A3R1, SDHB, CYP24A1, G6PC, XPNPEP3, CCDC28B, HMGCL, FAH, SARS2, COQ6, PDSS2, CYP11B2, FH, HADHA, SDHC, SLC25A13, RRM2B, CYP11B1, NPHP4, TRIM32, TTC8, CEP290, MKKS, NPHP1, NPHP3, ARL6, TMEM67, NR3C2, GNAS, THBD, C3, CD46, CFHR5, CFH, HPRT1, JAG1, OCRL, CC2D2A, GLB1, CPS1, INPP5E, RET, HNF1B, SDHAF2, PAX6, WT1, SLC34A1, LRP5, EYA1, MMACHC, HNF1A, INVS, BCS1L, AUH, ATP7B, ARG1, ACAT1, VHL Specificity 1 % Genes 3 %
Macrocephaly. By MGZ Medical Genetics Center in Germany. DIS3L2, CCND2, HEPACAM, TBC1D7, KPTN, AKT1, AKT3, PIK3R2, GNAQ, PIK3CA, KIF7, GPSM2, GLI3, RNF135, EZH2, NFIX, DNMT3A, ABCC6, BRWD3, UPF3B , (...) View the complete list with 22 more genes Panel GTR000521142 complete gene list DIS3L2, CCND2, HEPACAM, TBC1D7, KPTN, AKT1, AKT3, PIK3R2, GNAQ, PIK3CA, KIF7, GPSM2, GLI3, RNF135, EZH2, NFIX, DNMT3A, ABCC6, BRWD3, UPF3B, HUWE1, CHD8, MED12, GFAP, RAB39B, CUL4B, SYN1, GRIA3, OFD1, SETD2, WASHC5, L1CAM, EIF2B5, MLC1, GPC3, CDKN1C, PTCH1, NSD1, TSC1, TSC2, ASPA, PTEN Specificity 3 % Genes 3 %
Nephrology Endocrinology and Electrolytes - panels. By MGZ Medical Genetics Center in Germany. UPK2, DACH1, DSTYK, CHD1L, CDC5L, BMP7, SIX2, TRAP1, UPK3A, AGTR1, ANLN, FGF20, ITGA8, PTPRO, EMP2, CHRM3, BICC1, ROBO2, ARHGDIA, AGT , (...) View the complete list with 97 more genes Panel GTR000552435 complete gene list UPK2, DACH1, DSTYK, CHD1L, CDC5L, BMP7, SIX2, TRAP1, UPK3A, AGTR1, ANLN, FGF20, ITGA8, PTPRO, EMP2, CHRM3, BICC1, ROBO2, ARHGDIA, AGT, SOX17, HPSE2, ETV5, LRIG2, SLC7A9, SEC63, WNK4, CUL3, MYO1E, CLCN5, PAX8, REN, MUC1, CRB2, FRAS1, WNT4, FREM2, GRIP1, APPL1, PRKCSH, HOGA1, SMARCAL1, ITGA3, COQ8B, BMP4, FREM1, BLK, KLF11, PAX4, GREM1, ZIC3, KLHL3, APOL1, DGKE, NOD2, CD2AP, ACE, ACTA2, CLCNKA, MYH9, GATA3, SIX1, SIX5, SALL1, OFD1, KCNJ10, PKD1, PKD2, COL4A5, SLC12A1, KCNJ1, TRPC6, CLCNKB, PLCE1, BSND, ACTN4, SLC12A3, LAMB2, COL4A4, UMOD, INF2, HNF4A, PDX1, INS, ANOS1, CASR, KCNJ11, CEL, WNK1, PKHD1, ABCC8, GRHPR, NPHS1, NPHS2, COL4A3, TSC1, TSC2, GLA, PAX2, LMX1B, SLC3A1, AGXT, COQ2, CYP24A1, COQ6, PDSS2, COQ9, GCK, OCRL, RET, HNF1B, WT1, EYA1, NEUROD1, HNF1A, ALPL, VHL Specificity 1 % Genes 3 %
Mental Retardation and Dysmorphology - panels. By MGZ Medical Genetics Center in Germany. GATAD2B, CUL7, SPECC1L, IRF6, CCNQ, ROR2, CCND2, HEPACAM, TBC1D7, KPTN, WNT5A, SRCAP, UBR1, C2CD3, TCTN3, NOTCH2, PACS1, EPG5, ERCC8, AKT1 , (...) View the complete list with 323 more genes Panel GTR000552438 complete gene list GATAD2B, CUL7, SPECC1L, IRF6, CCNQ, ROR2, CCND2, HEPACAM, TBC1D7, KPTN, WNT5A, SRCAP, UBR1, C2CD3, TCTN3, NOTCH2, PACS1, EPG5, ERCC8, AKT1, AKT3, PIK3R2, INSR, IDH1, ALX1, GNAQ, PIK3CA, CPLANE1, KIF7, GNAS, TRIM37, CTC1, EFTUD2, EFNB1, EP300, TBX5, SALL4, ALX4, PGK1, SMARCA2, ARID1A, SMARCB1, SMARCA4, KMT2A, SMARCE1, ERCC6, PITX1, KDM6A, MAGEL2, TP63, MITF, GPSM2, ABCC9, GLI3, RNF135, EZH2, NFIX, DNMT3A, GNPTG, ABCC6, A2ML1, RRAS, RASA2, NSUN2, SPRED1, TWIST1, POR, RAB23, THOC2, CCDC22, CLCN4, ZMYM3, EIF2S3, LAS1L, KLF8, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SOX3, SLC16A2, CLIC2, BRWD3, ZDHHC9, RAB40AL, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, UPF3B, UBE2A, TSPAN7, DLG3, DKC1, FANCB, ZNF41, ZNF711, MAGT1, LAMP2, MBTPS2, AFF2, AGTR2, HCFC1, HUWE1, IGBP1, PHF8, RASA1, PEX12, PEX10, PEX26, FAT4, LZTR1, NLGN3, NLGN4X, CTNNB1, ARID1B, CHD8, AP1S2, EHMT1, FOXP1, FOXP2, MED12, MID1, PTCHD1, FUCA1, POLR1D, TFAP2A, PEX6, PRPS1, TCOF1, SOX10, SNAI2, EDNRB, EDNRA, PAX3, POLR1C, EDN3, ACTG1, ACTB, SALL1, GFAP, VPS13B, ZEB2, SETBP1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, CNTNAP2, TCF4, KCNJ10, ANKRD11, DYRK1A, GRIN1, NRXN1, KANSL1, ST3GAL3, WDR45, NEXMIF, SETD2, KMT2D, SRPX2, FLNA, PQBP1, DCX, MBD5, GRIN2A, GRIN2B, EMD, MTM1, KIF1A, FHL1, WASHC5, L1CAM, MYH7, FGFR1, NFATC2IP, PLXND1, REV3L, NXF5, HERC2, WAC, STRADA, MED13L, BCL11A, DLL4, TXNL4A, LMBR1, NOG, DCHS1, DVL1, EOGT, DIS3L2, TBX3, RBPJ, DOCK6, TRPS1, KAT6A, DDX3X, FLNB, ARHGAP31, HOXD13, SF3B4, SNX14, CCDC8, OBSL1, ALX3, CC2D1A, CRBN, GRIK2, TRAPPC9, ZNF674, CDH15, C12orf57, MED23, TECR, ANK3, CACNG2, CTCF, EPB41L1, NF1, EIF2B5, SUMF1, PEX1, MCOLN1, MLC1, PEX2, GPC3, CDKN1C, PTCH1, NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, CBL, RAD21, TSC2, MAP2K2, RIT1, HDAC8, SOS2, FGFR2, SOS1, SHOC2, RAI1, PTPN11, PORCN, PLP1, PCDH19, NRAS, NPC2, NPC1, MEF2C, MAP2K1, KRAS, IKBKG, IDUA, IDS, HRAS, FOXG1, DMD, DHCR7, CREBBP, CHRNA7, CHD7, CDKL5, BRAF, GBA, ARX, ASPA, FGFR3, SLC6A8, GBE1, PYGM, CBS, MAN2B1, MANBA, NDUFA1, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, PHKB, HEXB, HEXA, BCOR, SLC9A6, ACSL4, PHKA1, MAOA, AIFM1, TIMM8A, GK, PDHA1, HCCS, OTC, PHKG2, IDH2, G6PC, PYGL, PHKA2, DHODH, MECP2, SMPD1, RAF1, NHS, HPRT1, NDP, JAG1, OCRL, HSD17B10, GLB1, GNPTAB, SLC37A4, LRP5, GAA, ATP7A, AGL, RECQL4, PTEN, UBE3A, FMR1 Specificity 1 % Genes 3 %
Syndromal Diseases - panels. By MGZ Medical Genetics Center in Germany. PACS1, EPG5, ERCC8, AKT1, AKT3, PIK3R2, INSR, IDH1, ALX1, GNAQ, PIK3CA, CPLANE1, KIF7, GNAS, TRIM37, EFTUD2, EFNB1, EP300, TBX5, SALL4 , (...) View the complete list with 322 more genes Panel GTR000552442 complete gene list PACS1, EPG5, ERCC8, AKT1, AKT3, PIK3R2, INSR, IDH1, ALX1, GNAQ, PIK3CA, CPLANE1, KIF7, GNAS, TRIM37, EFTUD2, EFNB1, EP300, TBX5, SALL4, ALX4, PGK1, SMARCA2, ARID1A, SMARCB1, SMARCA4, KMT2A, SMARCE1, ERCC6, PITX1, KDM6A, MAGEL2, TP63, MITF, GPSM2, ABCC9, GLI3, RNF135, EZH2, NFIX, DNMT3A, GNPTG, ABCC6, A2ML1, RRAS, RASA2, NSUN2, SPRED1, TWIST1, POR, RAB23, THOC2, CCDC22, CLCN4, ZMYM3, EIF2S3, LAS1L, KLF8, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SOX3, SLC16A2, CLIC2, BRWD3, ZDHHC9, RAB40AL, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, UPF3B, UBE2A, TSPAN7, DLG3, DKC1, FANCB, ZNF41, ZNF711, MAGT1, LAMP2, MBTPS2, AFF2, AGTR2, HCFC1, HUWE1, IGBP1, PHF8, RASA1, PEX12, PEX10, PEX26, FAT4, LZTR1, NLGN3, NLGN4X, CTNNB1, ARID1B, CHD8, AP1S2, EHMT1, FOXP1, FOXP2, MED12, MID1, PTCHD1, FUCA1, POLR1D, TFAP2A, PEX6, PRPS1, TCOF1, SOX10, SNAI2, EDNRB, EDNRA, PAX3, POLR1C, EDN3, ACTG1, ACTB, SALL1, GFAP, VPS13B, ZEB2, SETBP1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, CNTNAP2, TCF4, KCNJ10, ANKRD11, DYRK1A, GRIN1, NRXN1, KANSL1, ST3GAL3, WDR45, NEXMIF, SETD2, KMT2D, SRPX2, FLNA, PQBP1, DCX, MBD5, GRIN2A, GRIN2B, EMD, MTM1, KIF1A, FHL1, WASHC5, L1CAM, MYH7, FGFR1, NF1, EIF2B5, SUMF1, PEX1, MCOLN1, MLC1, PEX2, GPC3, CDKN1C, PTCH1, NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, CBL, RAD21, TSC2, MAP2K2, RIT1, HDAC8, SOS2, FGFR2, SOS1, SHOC2, RAI1, PTPN11, PORCN, PLP1, PCDH19, NRAS, NPC2, NPC1, MEF2C, MAP2K1, KRAS, IKBKG, IDUA, IDS, HRAS, FOXG1, DMD, DHCR7, CREBBP, CHRNA7, CHD7, CDKL5, BRAF, GBA, ARX, ASPA, FGFR3, SLC6A8, GBE1, PYGM, CBS, MAN2B1, MANBA, NDUFA1, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, PHKB, HEXB, HEXA, BCOR, SLC9A6, ACSL4, PHKA1, MAOA, AIFM1, TIMM8A, GK, PDHA1, HCCS, OTC, PHKG2, IDH2, G6PC, PYGL, PHKA2, DHODH, MECP2, SMPD1, RAF1, NHS, HPRT1, NDP, JAG1, OCRL, HSD17B10, GLB1, GNPTAB, SLC37A4, LRP5, NFATC2IP, PLXND1, REV3L, NXF5, HERC2, WAC, STRADA, MED13L, BCL11A, DLL4, TXNL4A, LMBR1, NOG, DCHS1, DVL1, EOGT, DIS3L2, TBX3, RBPJ, DOCK6, TRPS1, KAT6A, DDX3X, FLNB, ARHGAP31, HOXD13, SF3B4, SNX14, CCDC8, OBSL1, ALX3, CC2D1A, CRBN, GRIK2, TRAPPC9, ZNF674, CDH15, C12orf57, MED23, TECR, ANK3, CACNG2, CTCF, EPB41L1, GATAD2B, CUL7, SPECC1L, IRF6, CCNQ, ROR2, CCND2, HEPACAM, TBC1D7, KPTN, WNT5A, SRCAP, UBR1, C2CD3, TCTN3, NOTCH2, GAA, ATP7A, AGL, RECQL4, PTEN, UBE3A, FMR1 Specificity 1 % Genes 3 %
X-Linked Mental Retardation. By MGZ Medical Genetics Center in Germany. NXF5, FAM126A, ZNF674, PGK1, CTDP1, GAN, KDM6A, THOC2, CLCN4, ZMYM3, EIF2S3, LAS1L, KLF8, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SOX3, SLC16A2 , (...) View the complete list with 93 more genes Panel GTR000521044 complete gene list NXF5, FAM126A, ZNF674, PGK1, CTDP1, GAN, KDM6A, THOC2, CLCN4, ZMYM3, EIF2S3, LAS1L, KLF8, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SOX3, SLC16A2, BRWD3, ZDHHC9, RAB40AL, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, UPF3B, UBE2A, TSPAN7, DLG3, DKC1, FANCB, ZNF41, ZNF711, MAGT1, LAMP2, MBTPS2, AFF2, AGTR2, HCFC1, HUWE1, IGBP1, PHF8, NLGN3, NLGN4X, AP1S2, MED12, MID1, PTCHD1, PRPS1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, WDR45, NEXMIF, SRPX2, FLNA, PQBP1, DCX, EMD, MTM1, FHL1, L1CAM, SLC12A6, GPC3, SMC1A, HDAC8, PORCN, PLP1, PCDH19, IKBKG, IDS, DMD, CDKL5, ARX, SLC6A8, NDUFA1, BCOR, SLC9A6, ACSL4, MAOA, AIFM1, TIMM8A, GK, PDHA1, HCCS, OTC, MECP2, NHS, HPRT1, NDP, OCRL, HSD17B10, ATP7A, FMR1 Specificity 1 % Genes 3 %
Brain Malformations / Neuronal Migration Disorders. By MGZ Medical Genetics Center in Germany. NXF5, HERC2, ARHGEF15, JAM3, DARS, CLP1, DIS3L2, COL4A2, POLR3B, POLR3A, ITM2B, STUB1, NOL3, SEPSECS, KCNH5, ZNF674, KIF2A, KIF5C, TUBB, TUBG1 , (...) View the complete list with 246 more genes Panel GTR000521067 complete gene list NXF5, HERC2, ARHGEF15, JAM3, DARS, CLP1, DIS3L2, COL4A2, POLR3B, POLR3A, ITM2B, STUB1, NOL3, SEPSECS, KCNH5, ZNF674, KIF2A, KIF5C, TUBB, TUBG1, CCND2, HEPACAM, TBC1D7, KPTN, OCLN, ADA2, TDGF1, XK, AKT1, AKT3, PIK3R2, GNAQ, DISP1, PIK3CA, EOMES, KIF7, DCAF17, CP, FTL, PGK1, ADAR, TUBB4A, C19orf12, SMARCA2, ARID1A, SMARCB1, SMARCA4, SMARCE1, MYBPC1, HNRNPDL, KDM6A, GPSM2, GLI3, RNF135, EZH2, NFIX, CDK5RAP2, GLI2, CDON, FOXH1, NODAL, CEP152, TUBB2A, EXOSC3, THOC2, CLCN4, ZMYM3, EIF2S3, KLF8, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SOX3, SLC16A2, BRWD3, ZDHHC9, RAB40AL, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, UPF3B, UBE2A, TSPAN7, DLG3, DKC1, FANCB, ZNF41, ZNF711, MAGT1, MBTPS2, AFF2, AGTR2, HCFC1, HUWE1, IGBP1, PHF8, NEU1, NLGN3, NLGN4X, ARID1B, CHD8, AP1S2, EHMT1, MED12, MID1, PTCHD1, HTRA1, VPS13A, TREX1, ZEB2, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, KIF1BP, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, SAMHD1, PNKP, SPTAN1, PLCB1, DYRK1A, NRXN1, SCN8A, WDR45, NEXMIF, EEF1A2, SETD2, ATP13A2, TUBB2B, SRPX2, STIL, ADGRG1, PAFAH1B1, FLNA, TUBA8, RELN, PQBP1, NDE1, QARS, DCX, CENPJ, ARFGEF2, COL4A1, PRRT2, DEPDC5, TBC1D24, ASAH1, SCARB2, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, PNPO, KCNQ3, KCNQ2, KCNT1, HCN1, GABRD, SYNJ1, SCN2A, SCN1B, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, LGI1, EFHC1, CHRNB2, CACNA1H, ASPM, CACNB4, FA2H, L1CAM, CASR, FGF8, SGCE, NOTCH3, SCN1A, CSTB, EIF2B3, PLA2G6, PHGDH, EIF2B5, CLN5, MLC1, PPT1, DOK7, CLN6, GPC3, CDKN1C, PTCH1, NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, RAD21, TSC2, HDAC8, WDR62, SLC2A1, PORCN, PCDH19, MEF2C, IDS, FOXG1, CHD7, CDKL5, ELP1, ARX, ASPA, FGFR3, CLN3, TPP1, CYP27A1, GALC, SGSH, HGSNAT, ALDH7A1, SLC9A6, ACSL4, MAOA, GK, GLDC, SLC25A22, TUBA1A, STXBP1, GAMT, MECP2, FH, PANK2, HPRT1, HSD17B10, TUBB3, APP, PTEN, UBE3A, FMR1 Specificity 1 % Genes 3 %
Epileptic syndromes with epilepsy and intellectual disability panel. By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands. AUTS2, CNKSR2, MED12, TREX1, ZEB2, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, KDM5C, PAK3, GRIA3, SYP, PHF6, FGD1, ATRX, SMS, OFD1, CNTNAP2 , (...) View the complete list with 30 more genes Panel GTR000509403 complete gene list AUTS2, CNKSR2, MED12, TREX1, ZEB2, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, KDM5C, PAK3, GRIA3, SYP, PHF6, FGD1, ATRX, SMS, OFD1, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, PNKP, DYRK1A, NRXN1, SRPX2, PQBP1, DCX, TBC1D24, MBD5, GRIN2A, GRIN2B, GPC3, SMC1A, SYNGAP1, PLP1, MEF2C, FOXG1, CDKL5, ARX, SLC6A8, SLC9A6, STXBP1, MECP2, HSD17B10, UBE3A Specificity 2 % Genes 3 %
Joubert syndrome type 10. By Centogene AG - the Rare Disease Company in Germany. OFD1 Specificity 100 % Genes 3 %
AllNeuro panel. By Centogene AG - the Rare Disease Company in Germany. FCGR2B, TNF, ALOX5AP, PRKCH, TLR5, TIRAP, NOS2, XBP1, KCNK18, AANAT, SNIP1, EIF4E, ZBTB18, ADAM10, YAP1, ICAM1, SNX3, CISH, TAS2R38, FRG1 , (...) View the complete list with 1185 more genes Panel GTR000528053 complete gene list FCGR2B, TNF, ALOX5AP, PRKCH, TLR5, TIRAP, NOS2, XBP1, KCNK18, AANAT, SNIP1, EIF4E, ZBTB18, ADAM10, YAP1, ICAM1, SNX3, CISH, TAS2R38, FRG1, TNFSF4, RABGGTA, CDK11A, CNTNAP4, CR1, CD207, ACKR1, JRK, CD59, FZD9, DNAH9, VDAC1, NRG1, ELK1, NXF5, FLRT1, ADK, KCNK9, HERC2, WAC, ERBB4, NDUFA4, RBFOX3, STRADA, ARSI, USP8, WDR48, ZFR, ATP2B4, NOG, PRRX1, NECTIN1, UPB1, KANK1, ALAD, CACNA1B, YWHAE, FBXO38, TRPM7, EXOSC8, CHRM3, FTO, ZBTB16, ERCC1, SNCAIP, GIGYF2, TMCO1, MSX1, TUBA4A, WNT3, IRX5, AIMP1, EXOC8, PLEKHG4, HPSE2, PDE8B, LYZ, CIZ1, HDAC4, NOS3, TRPM6, DRD3, SLC6A5, IGF1, GLRA1, CST3, TFAP2B, GLRB, UMPS, NOP56, IFRD1, TRPS1, POGZ, PEX11B, GYG1, COL4A2, FAM126A, HOXD10, ARHGEF10, NGF, RETREG1, GDNF, ASCL1, CERS1, ARHGAP31, IL1RN, EIF4G1, WNT10A, KCNE5, DSC3, AP1S1, SCN10A, CWF19L1, CHCHD10, RNF170, POLR3B, POLR3A, WDR81, COA5, ZNF592, RUBCN, MAPK10, LMNB1, ITM2B, STUB1, NAT8L, ERCC5, ELOVL5, PIK3R5, NOL3, GRID2, COL18A1, ATCAY, CAMTA1, ATP2B3, ATP8A2, AAAS, ACY1, SLC30A10, ADCY5, GNAL, BCAP31, HPCA, ANO3, DNAJC6, ORC1, ALX3, CD96, CA8, CC2D1A, CRBN, GRIK2, MAN1B1, PRSS12, TRAPPC9, CDH15, SOBP, C12orf57, LINS1, LRP2, MED23, TECR, ANK3, CACNG2, EPB41L1, CRADD, NDST1, TAF2, TTI2, CEP63, KNL1, CEP135, ZNF335, MED17, LAMB1, MPDZ, CCDC88C, SNAP29, ASNS, PREPL, MAMLD1, ARSE, ICK, WNT7A, ROR2, DHH, ESCO2, GRIP1, DYNC2H1, ZNF423, RIN2, HEPACAM, WNT5A, CSPP1, PDE6D, PIGL, NTRK2, OCLN, NLRP12, TICAM1, TRAF3, UNC93B1, TCTN3, NOTCH2, PRKRA, RANBP2, COL7A1, DST, FADD, LPIN2, XK, NHEJ1, RBM8A, SLC4A1, AKT1, AKT3, PIK3R2, B3GLCT, ALX1, FREM1, VAX1, CD36, VIPAS39, MYO5A, FGA, A2M, GP1BA, VPS35, PTF1A, ABCA1, B9D2, APOA1, PCBD1, SLC6A3, DRD2, EARS2, FBXO7, SLC20A2, TPK1, SORL1, PRNP, TREM2, CSF1R, IL11RA, TMEM165, COG5, COG6, ALG11, COG4, SCO1, COX10, MARS2, VLDLR, MYCN, RBBP8, IER3IP1, RAB18, PIK3CA, EOMES, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, ZIC3, B9D1, VEGFA, MASP1, BDNF, DCAF17, COASY, CP, FTL, NOD2, CTC1, GNPAT, CCT5, ASXL1, EFTUD2, RNASET2, EP300, ALX4, CD320, ACE, LHX4, SLC9A9, CSF2RB, DOCK8, ACVRL1, SLC4A4, BLOC1S6, IFT140, GAN, MED25, AARS, LRSAM1, TFG, HINT1, DNAJB2, DHTKD1, GNB4, SBF1, PDK3, TRIM2, PLEKHG5, COX6A1, MARS, KDM6A, MAGEL2, TP63, GLI3, RNF135, NFIX, ABCC6, ACTA2, SKI, TGFBR2, TGFBR1, TGFB2, HYAL1, NAGA, ATR, PCNT, FLVCR2, CDK5RAP2, GLI2, CDON, CEP152, ZIC2, TGIF1, TSEN2, TSEN34, EXOSC3, VANGL1, MTOR, NEDD4L, CLCN2, NSUN2, TWIST1, MSX2, ZCCHC12, KLF8, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SOX3, SLC16A2, TAF1, CLIC2, BRWD3, ZDHHC9, RAB40AL, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, USP9X, UPF3B, UBE2A, TSPAN7, EBP, DLG3, DKC1, FANCB, ZNF711, MAGT1, LAMP2, MBTPS2, AFF2, HUWE1, IGBP1, PHF8, CHRNG, NEU1, FOXP3, MVK, CLCNKA, KAT6B, PEX5, TBCE, TG, TSHB, TUBGCP6, ASXL3, SEPSECS, AMPD2, RNU4ATAC, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, NLGN3, NLGN4X, CTNNB1, ARID1B, TMEM231, HOXA1, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, KIRREL3, LAMC3, MED12, MID1, ADNP, DIAPH3, TFAP2A, PEX6, MYH9, MYH14, GJB3, CHSY1, PRPS1, SOX10, EDNRB, DNMT1, NLRP3, ERCC2, EDN3, CACNA1D, ACTG1, ACTB, SHANK2, SHANK3, HTRA1, ATP2A2, LBR, TBX1, PAFAH1B1, TSEN54, FLNA, TUBA8, RELN, SIX3, RAB3GAP1, PQBP1, NDE1, QARS, EMX2, DCX, CENPJ, ARFGEF2, COL4A1, BCKDK, PIGO, BRAT1, PRRT2, DEPDC5, TBC1D24, ASAH1, ALG13, SCN5A, SCARB2, KCNMA1, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, SCN3A, PNPO, KCNQ3, KCNQ2, KCNT1, GRIN2B, GABRD, FOLR1, SLC6A1, SLC35A2, SYNJ1, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, EFHC1, CPA6, CHRNB2, CACNA1H, ATP1A3, ATP1A2, ASPM, MCPH1, COL6A1, LARGE1, COL6A3, COL6A2, POMGNT2, LAMA2, SPTBN2, TTBK2, TGM6, FGF14, PDYN, ITPR1, KCNC3, KCND3, EEF2, VAMP1, GRM1, SIL1, TDP1, ANO10, SYT14, CHRNB1, CHRND, CHRNA1, AGRN, GFPT1, MUSK, COLQ, SLC1A3, CACNB4, KCNA1, SMCHD1, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, TRAPPC11, FGF10, PGK1, CTDP1, KIF11, ZFYVE27, AP4M1, AP4E1, AP4B1, AP4S1, RAB3GAP2, ERLIN2, VPS37A, ADAR, DDHD1, TECPR2, DDHD2, CYP2U1, GBA2, TUBB4A, B4GALNT1, UCHL1, C19orf12, KIF1C, NT5C2, ENTPD1, PGAP1, MAG, REEP2, ERLIN1, SMARCA2, ARID1A, SMARCB1, SMARCA4, KMT2A, ERCC6, CHMP1A, PIEZO2, SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, GMPPB, POMK, SLC5A7, HNRNPDL, MTMR14, TNPO3, MYF6, LIMS2, COL12A1, AMPD1, PRKAG2, NKX2-1, EMD, SYNE2, SYNE1, IGHMBP2, VRK1, HSPB3, DYNC1H1, BICD2, BIN1, MTM1, TNNT1, TPM2, CFL2, CNTN1, KBTBD13, CCDC78, ACTA1, TPM3, UBQLN2, PFN1, VAPB, ANG, TARDBP, CHMP2B, DCTN1, SETX, FUS, SIGMAR1, RYR1, SLC33A1, NIPA1, L1CAM, ATP2A1, KIF5A, SPAST, MATR3, LDB3, MYOT, ANO5, FLNC, MYH7, DES, TTN, KCNJ1, CLCNKB, BSND, LAMB2, INF2, INS, CASR, KCNJ11, FGFR1, SNCA, SGCE, LRRK2, NF1, GCH1, THAP1, TOR1A, CACNA1A, ATXN3, SCN4A, DYSF, CNBP, UBA1, CAV3, FKRP, CLCN1, NOTCH3, AHI1, C9orf72, APOE, MAPT, PSEN2, SCN1A, CSTB, SPG11, EIF2B4, EIF2B2, SMN2, EIF2B3, ZFYVE26, ATL1, SPTLC1, WNK1, NTRK1, GJB1, LMNA, DNM2, YARS, HSPB1, EGR2, RAB7A, LITAF, HSPB8, NEFL, PMP22, MPZ, TRPV4, GDAP1, MTMR2, SH3TC2, FGD4, FIG4, PRX, SBF2, NDRG1, TMEM216, RAPSN, PLA2G6, EIF2B5, CLN5, CAPN3, ABCC8, TTPA, SUMF1, SLC17A5, SLC12A6, SGCG, POMGNT1, PEX1, MLC1, TH, SACS, SGCB, SGCA, PEX7, PPT1, PROP1, PEX2, NEB, FKTN, DOK7, CLN8, CLN6, CHRNE, RAD50, GPC3, MET, PHOX2B, MRE11, ATM, NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, CBL, RAD21, TSC2, HDAC8, FGFR2, WDR62, VPS13A, GFAP, VPS13B, TREX1, ZEB2, SETBP1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, SERPINI1, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, PNKP, SPTAN1, PLCB1, ANKRD11, PIGV, PIGN, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, ST3GAL3, WDR45, SZT2, NEXMIF, SLC13A5, TBL1XR1, SETD2, MAGI2, RBFOX1, KMT2D, PDCD10, CCM2, ATP13A2, MFSD8, DNAJC5, KRIT1, TUBB2B, SRPX2, STIL, ADGRG1, CACNA1S, ALS2, SPG21, SPART, FA2H, AP5Z1, CYP7B1, KIF1A, PNPLA6, SELENON, FHL1, BAG3, RTN2, WASHC5, BSCL2, SOS1, SMN1, SLC2A1, SHOC2, RAI1, PTPN11, PORCN, PLP1, PCDH19, NRAS, NPC2, NPC1, MEF2C, KRAS, IKBKG, IDUA, IDS, HRAS, GJC2, FOXG1, EIF2B1, DMD, DHCR7, CREBBP, CHD7, CDKL5, BRAF, GBA, ELP1, ARX, ASPA, ARSA, AR, FGFR3, TSHR, HPD, MOGS, DPAGT1, DOLK, ARSB, AHCY, AGA, ABCD4, SDHA, MTFMT, SLC6A8, TMLHE, TACO1, GSN, NEFH, SOD1, PNKD, SNCB, WWOX, KIF21A, HESX1, ALMS1, CLN3, TPP1, ASL, APTX, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, PRKN, PMM2, MGAT2, SLC25A20, SLC22A5, SIX6, CYP27A1, ASS1, SLC3A1, COX6B1, FASTKD2, LRPPRC, FXN, GCDH, ETFDH, ETFA, ETFB, DBT, MUT, MMAA, MMAB, MCEE, NDUFAF5, NDUFS2, NDUFS6, NDUFV2, NDUFV1, NDUFS1, NDUFAF4, NDUFA11, NDUFA1, NDUFAF3, SDHAF1, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, CHAT, NDUFAF6, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, MPV17, AGXT, PAH, QDPR, PTS, PGAM2, ACOX1, ALDH7A1, SLC35C1, PHYH, LPIN1, HEXB, ALDH3A2, ALDH5A1, GM2A, HEXA, ABHD5, LMBRD1, MMADHC, ABCD1, BCOR, SLC9A6, ACSL4, PHKA1, MAOA, AIFM1, ABCB7, TAZ, TIMM8A, GK, PDHA1, HCCS, FRMD7, OTC, PUS1, ALG3, ETHE1, PTCH1, NBN, MPI, TYMP, ALG6, GAD1, SLC35A1, SCO2, CISD2, AMT, GLDC, GCSH, PINK1, HMGCS2, PARK7, B4GALT1, ALG12, SPG7, COQ2, GRN, ALG2, ALG8, AP3B1, ALG1, ATIC, ALG9, COG7, DPM1, HADHB, FLVCR1, GFM1, MPDU1, SLC25A22, TK2, ACADSB, CTSD, POLG2, DNAJC19, REEP1, HTRA2, TSFM, PNPLA2, SLC25A3, TUSC3, DARS2, COG8, COG1, RARS2, GYS1, TUBA1A, RFT1, COQ8A, SUCLA2, STXBP1, SPR, GATM, GAMT, ENO3, LDHA, PGM1, DPM3, SLC25A12, TMEM126A, TLR3, GFER, ABAT, SPTLC2, KARS, SCP2, NUBPL, NDUFA10, MTPAP, TTC19, CCDC28B, NDUFAF1, PCK2, NFU1, TMEM70, HPS3, HPS4, HPS5, HPS6, BLOC1S3, ACSF3, BOLA3, DGUOK, DNM1L, HPS1, ALDH18A1, AGK, NDUFA9, NDUFB3, DDOST, NDUFA12, ACO2, PDSS1, PDSS2, COQ9, MTO1, CYP11B2, MECP2, SMPD1, VCP, FH, OPA3, RAF1, HADHA, PANK2, CRYAB, MFN2, KIF1B, NDUFAF2, RRM2B, FOXRED1, AFG3L2, GARS, SLC25A4, SLC25A19, HSPD1, NDUFS4, POLG, DLD, AASS, PRPH2, SHH, TRIM32, TTC8, CEP290, ADGRV1, MKKS, NPHP1, NPHP3, ARL6, TMEM67, NHS, HPRT1, NDP, ELOVL4, OCRL, HSD17B10, GNE, SRD5A3, ATP6V0A2, CC2D2A, GLB1, PSAP, WFS1, DTNBP1, KRT5, OPA1, CPT2, HSD17B4, AMACR, MTRR, INPP5E, GPR143, GBE1, PYGM, PFKM, HK1, ALDH4A1, GALC, SUCLG1, OPTN, RET, MTR, TUBB3, PSEN1, TGFB1, PAX6, AMN, APP, PRKCG, FBLN5, MMACHC, ADSL, GAA, C12orf65, TWNK, BEST1, BCS1L, BCKDHB, BCKDHA, ATPAF2, ATP7B, ATP7A, ATP5F1E, TYROBP, UQCRB, ARG1, UQCRQ, PC, ALDOB, ALDOA, ACAT1, ACADVL, AGL, ACADS, ACADM, ACADL, ACAD9, ACACA, ABHD12, AARS2, PTEN, VHL, UBE3A, TTR, MTHFR, HFE, HTT, FMR1, F5, F2 Specificity 1 % Genes 3 %
Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel. By CeGaT GmbH in Germany. CYP26C1, NECTIN4, NECTIN1, BANF1, LIPH, APCDD1, SNRPE, KRT85, HOXC13, KCTD1, MSX1, KRT74, LPAR6, DLX3, TWIST2, HR, ANTXR1, TRPS1, EDARADD, DSG4 , (...) View the complete list with 35 more genes Panel GTR000522393 complete gene list CYP26C1, NECTIN4, NECTIN1, BANF1, LIPH, APCDD1, SNRPE, KRT85, HOXC13, KCTD1, MSX1, KRT74, LPAR6, DLX3, TWIST2, HR, ANTXR1, TRPS1, EDARADD, DSG4, WNT10A, ST14, GTF2H5, EDAR, MPLKIP, KRT83, KRT81, KRT86, PIGL, UBR1, EDA, CDSN, KRT14, PKP1, NFKBIA, AXIN2, IFT122, IFT43, GJA1, FGF10, WDR19, CDH3, TP63, CTSC, SOX18, WDR35, GRHL2, OFD1, FGFR2, SHOC2, PORCN, GJB6, FGFR3, DSP, BCS1L Specificity 2 % Genes 3 %
Joubert Syndrome Panel. By CeGaT GmbH in Germany. ZNF423, CEP164, CSPP1, PDE6D, CEP104, KIAA0556, TCTN3, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, KIAA0586, TMEM231 , (...) View the complete list with 8 more genes Panel GTR000522414 complete gene list ZNF423, CEP164, CSPP1, PDE6D, CEP104, KIAA0556, TCTN3, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, KIAA0586, TMEM231, OFD1, AHI1, TMEM216, CEP290, NPHP1, TMEM67, CC2D2A, INPP5E Specificity 4 % Genes 3 %
Joubert Syndrome Panel. By CeGaT GmbH in Germany. ZNF423, CEP164, CSPP1, PDE6D, CEP104, KIAA0556, TCTN3, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, KIAA0586, TMEM231 , (...) View the complete list with 8 more genes Panel GTR000522447 complete gene list ZNF423, CEP164, CSPP1, PDE6D, CEP104, KIAA0556, TCTN3, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, KIAA0586, TMEM231, OFD1, AHI1, TMEM216, CEP290, NPHP1, TMEM67, CC2D2A, INPP5E Specificity 4 % Genes 3 %
Single gene testing OFD1. By CeGaT GmbH in Germany. OFD1 Specificity 100 % Genes 3 %
Joubert Syndrome Panel. By Molecular Vision Laboratory in United States. CSPP1, IFT172, TCTN3, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, TMEM231, OFD1, AHI1, TMEM216, MKS1, CEP290 , (...) View the complete list with 5 more genes Panel GTR000552244 complete gene list CSPP1, IFT172, TCTN3, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, TMEM231, OFD1, AHI1, TMEM216, MKS1, CEP290, NPHP1, NPHP3, TMEM67, CC2D2A, INPP5E Specificity 4 % Genes 3 %
qChip. By Quantitative Genomic Medicine Laboratories, SL in Spain. SEM1, IGF2, CBFB, TRAPPC10, FBXW11, TBX3, HDAC4, TRPS1, STS, HOXD13, LMNB1, MID2, IRF6, MNX1, SIM1, DISP1, MYCN, GATA4, ZIC3, VEGFA , (...) View the complete list with 106 more genes Panel GTR000521292 complete gene list SEM1, IGF2, CBFB, TRAPPC10, FBXW11, TBX3, HDAC4, TRPS1, STS, HOXD13, LMNB1, MID2, IRF6, MNX1, SIM1, DISP1, MYCN, GATA4, ZIC3, VEGFA, SATB2, EP300, TBX5, SALL4, LHX4, NR5A1, SH2D1A, NKX2-5, TP63, MITF, SNRPN, GLI3, TGFBR2, TGFBR1, ZIC2, TGIF1, SOX9, TWIST1, IL1RAPL1, SOX3, CLCNKA, EHMT1, GATA3, PAX3, SALL1, SHANK3, ZEB2, PAK3, OFD1, ADGRG1, PAFAH1B1, RELN, SIX3, EMX2, DCX, PKD1, COL4A5, SLC12A1, KCNJ1, CLCNKB, BSND, SLC12A3, ANOS1, CASR, SHOX, NR0B1, NF1, AHI1, MAPT, SCN1A, PMP22, BTK, SMAD4, BMPR1A, NF2, PTCH1, NSD1, NIPBL, SMC1A, TSC2, MAP2K2, SRY, SOS1, RUNX2, RAI1, PTPN11, PLP1, MAP2K1, KRAS, DHCR7, CHD7, CDKL5, BRAF, ARX, LMX1B, SOX2, TIMM8A, GK, HCCS, OTC, RS1, FBN1, MECP2, SHH, CEP290, NPHP1, NDP, JAG1, PITX2, OCRL, ELN, HNF1B, LEMD3, RB1, PAX6, WT1, APP, OCA2, COL2A1, EYA1, FOXL2, TP53, PTEN, APC, UBE3A, FMR1 Specificity 1 % Genes 3 %
qGenEx Craniofacial Anomalies. By Quantitative Genomic Medicine Laboratories, SL in Spain. UBB, PAX7, HOXA2, TSHZ1, EIF4A3, DLX4, TBX22, SUMO1, KDM1A, SMOC2, WDR72, NOG, ODAPH, MMP20, KLK4, NECTIN1, ENAM, LTBP3, LRP6, PAX9 , (...) View the complete list with 116 more genes Panel GTR000552865 complete gene list UBB, PAX7, HOXA2, TSHZ1, EIF4A3, DLX4, TBX22, SUMO1, KDM1A, SMOC2, WDR72, NOG, ODAPH, MMP20, KLK4, NECTIN1, ENAM, LTBP3, LRP6, PAX9, MSX1, FAM83H, GRHL3, DLX3, PLCB4, EDN1, MEOX1, AMELX, EDARADD, ADAMTSL4, WNT10A, EDAR, SF3B4, FOXE1, ALX3, TCF12, ERF, MEGF8, CDC45, LRP2, SPECC1L, IRF6, EDA, CDSN, NFKBIA, AXIN2, GDF3, BMP4, ALX1, VAX1, IFT122, IL11RA, DISP1, IFT43, MASP1, SATB2, GJA1, SH3BP2, GNAI3, EFTUD2, EFNB1, SALL4, ALX4, FGF10, WDR19, GDF6, KDM6A, TP63, MITF, GLI3, EZH2, SKI, TGFBR2, TGFBR1, GLI2, CDON, ZIC2, TGIF1, TWIST1, MSX2, RAB23, NAA10, PTH1R, WDR35, KAT6B, MED12, MID1, POLR1D, TFAP2A, SEMA3E, FGF3, SIX1, TCOF1, SOX10, SNAI2, PAX3, POLR1C, DSPP, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, SALL1, ZEB2, FGD1, OFD1, ANKRD11, KMT2D, SIX3, FGF8, FGFR1, PTCH1, NSD1, NIPBL, SMC1A, SMC3, RAD21, FGFR2, RUNX2, PORCN, IKBKG, GJB6, CHD7, FGFR3, CTSK, BCOR, DHODH, SHH, OTX2, PITX2, FOXC1, PAX6, COL2A1, EYA1, RECQL4 Specificity 1 % Genes 3 %
Invitae Nephronophthisis Panel. By Invitae in United States. ANKS6, CEP83, ZNF423, CEP164, IFT172, GLIS2, NEK8, RPGRIP1L, TCTN1, TMEM237, TTC21B, SDCCAG8, WDR19, DCDC2, OFD1, AHI1, TMEM216, PKHD1, IQCB1, XPNPEP3 , (...) View the complete list with 7 more genes Panel GTR000514971 complete gene list ANKS6, CEP83, ZNF423, CEP164, IFT172, GLIS2, NEK8, RPGRIP1L, TCTN1, TMEM237, TTC21B, SDCCAG8, WDR19, DCDC2, OFD1, AHI1, TMEM216, PKHD1, IQCB1, XPNPEP3, NPHP4, CEP290, NPHP1, NPHP3, TMEM67, CC2D2A, INVS Specificity 4 % Genes 3 %
Invitae Joubert and Meckel-Gruber Syndromes Panel. By Invitae in United States. ZNF423, CSPP1, PDE6D, CEP104, TCTN3, B9D2, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, KIAA0586, TMEM231, OFD1 , (...) View the complete list with 10 more genes Panel GTR000514978 complete gene list ZNF423, CSPP1, PDE6D, CEP104, TCTN3, B9D2, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, KIAA0586, TMEM231, OFD1, AHI1, TMEM216, MRE11, MKS1, CEP290, NPHP1, NPHP3, TMEM67, CC2D2A, INPP5E Specificity 4 % Genes 3 %
Joubert syndrome. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, OFD1, AHI1, TMEM216, CEP290, NPHP1, TMEM67, CC2D2A Specificity 7 % Genes 3 %
Oral-Facial-Digital Syndrome: OFD1 Full Gene Sequencing. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. OFD1 Specificity 100 % Genes 3 %
Joubert Syndrome: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. ZNF423, TCTN3, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM237, TTC21B, OFD1, AHI1, TMEM216, CEP290, NPHP1, TMEM67, CC2D2A Specificity 6 % Genes 3 %
Epilepsy NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. EFHC2, CELSR1, GPHN, SLC6A5, GLRA1, GLRB, SCN10A, BUB1B, MAPK10, COL18A1, ACY1, MED17, SNAP29, LIG4, NHEJ1, SLC46A1, ARL13B, RPGRIP1L, PGK1, SCN4B , (...) View the complete list with 323 more genes Panel GTR000509399 complete gene list EFHC2, CELSR1, GPHN, SLC6A5, GLRA1, GLRB, SCN10A, BUB1B, MAPK10, COL18A1, ACY1, MED17, SNAP29, LIG4, NHEJ1, SLC46A1, ARL13B, RPGRIP1L, PGK1, SCN4B, SCN3B, SCN2B, GLI3, GNPTG, ATR, PCNT, FLVCR2, CDK5RAP2, GLI2, CDON, NODAL, ABCB1, CEP152, ZIC2, TGIF1, TSEN2, TSEN34, VANGL1, CLCN2, CCL2, SPRED1, NEU1, CLCNKA, KAT6B, PEX5, PEX12, PEX26, PEX3, PEX14, FUCA1, PEX6, GRIA3, SYP, PHF6, FGD1, ATRX, SMS, OFD1, SERPINI1, KIF1BP, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, PNKP, SPTAN1, PLCB1, PIGV, GRIN1, NRXN1, SCN8A, MAGI2, KMT2D, MFSD8, TUBB2B, SRPX2, STIL, ADGRG1, PAFAH1B1, TSEN54, FLNA, TUBA8, RELN, SIX3, RAB3GAP1, PQBP1, NDE1, EMX2, DCX, CENPJ, ARFGEF2, COL4A1, PRRT2, TBC1D24, SCN5A, SCARB2, KCNMA1, MBD5, HCN4, GRIN2A, GABRG2, GABRA1, EPM2A, CHRNA4, CHRNA2, SCN3A, PNPO, KCNQ3, KCNQ2, HCN1, GRIN2B, GABRD, FOLR1, SCN2A, SCN1B, SCN9A, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GABRB3, LGI1, EFHC1, CHRNB2, CACNA1H, ATP1A2, ASPM, MCPH1, LARGE1, LAMA2, CACNB4, KCNA1, POMT1, POMT2, VRK1, KCNJ1, CLCNKB, CASR, FGF8, KCNJ11, NF1, CACNA1A, SCN4A, FKRP, NOTCH3, AHI1, SCN1A, CSTB, EIF2B4, EIF2B2, EIF2B3, TMEM216, DPYD, PLA2G6, EIF2B5, CLN5, ABCC8, SUMF1, SLC17A5, POMGNT1, PEX1, MCOLN1, MLC1, PEX7, PPT1, PEX2, FKTN, CLN8, CLN6, GPC3, PTCH1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, CBL, TSC2, MAP2K2, WDR62, SOS1, SLC2A1, SHOC2, RAI1, PTPN11, PLP1, PCDH19, NRAS, NPC2, NPC1, MEF2C, MAP2K1, KRAS, IDUA, IDS, HRAS, FOXG1, EIF2B1, CDKL5, BRAF, ARX, ASPA, ARSA, FGFR3, HPD, MOGS, DPAGT1, DOLK, ARSB, AGA, SDHA, TACO1, CLN3, TPP1, APTX, PMM2, MGAT2, LRPPRC, GCDH, ETFDH, ETFA, ETFB, L2HGDH, ATP2A2, LBR, TBX1, VPS13A, GFAP, VPS13B, TREX1, ZEB2, SETBP1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, SLC25A15, ALDH4A1, GALC, NDUFV1, NDUFS1, NDUFA1, MOCS1, MOCS2, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, NDUFS3, NDUFS7, NDUFS8, COX15, NDUFA2, CTSA, QDPR, ALDH7A1, SLC35C1, HEXB, ALDH5A1, SUOX, HEXA, SLC9A6, PDHA1, ALG3, MPI, ALG6, SLC35A1, SCO2, AMT, GLDC, GCSH, B4GALT1, ALG12, COQ2, ALG2, ALG8, ALG1, ATIC, ALG9, COG7, DPM1, MPDU1, SLC25A22, CTSD, KCNV2, COG8, COG1, RARS2, TUBA1A, RFT1, COQ8A, STXBP1, GATM, GAMT, DPM3, ABAT, TMEM70, PDSS1, PDSS2, COQ9, MECP2, SMPD1, FH, RAF1, PANK2, SLC25A19, NDUFS4, POLG, DLD, SHH, CEP290, ADGRV1, NPHP1, TMEM67, HSD17B10, GNE, ATP6V0A2, PRODH, CC2D2A, GLB1, GNPTAB, PSAP, CPT2, PAX6, ADSL, C12orf65, BCS1L, ATPAF2, BTD, ARG1, PC, UBE3A, MTHFR Specificity 1 % Genes 3 %
Intellectual Disability NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. AQP7, TPH2, AFP, XIST, SNIP1, ZBTB24, GLUL, DIP2B, KCNK9, UPB1, CEP57, FTO, ZBTB16, TMCO1, IRX5, AGT, IGF1R, MRAP, HDAC4, IGF1 , (...) View the complete list with 372 more genes Panel GTR000509442 complete gene list AQP7, TPH2, AFP, XIST, SNIP1, ZBTB24, GLUL, DIP2B, KCNK9, UPB1, CEP57, FTO, ZBTB16, TMCO1, IRX5, AGT, IGF1R, MRAP, HDAC4, IGF1, GLRA1, SLC5A2, TRHR, FAM126A, HOXD10, NGF, AVP, AP1S1, BUB1B, WDR81, UROC1, ERCC5, CAMTA1, CEP41, KIF7, RPGRIP1L, SLC6A4, SATB2, CP, SLX4, ABCG5, FANCG, GNAS, NHP2, CTC1, GNPAT, EFNB1, ALX4, THRB, LHX3, PGK1, KIF11, AP4M1, AP4E1, AP4B1, AP4S1, ADAR, ARID1A, SMARCB1, SMARCA4, ERCC6, SDCCAG8, SLC4A4, LYST, GAN, GLI3, GNPTG, ABCC6, FBN2, NAGA, PCNT, ZIC2, TGIF1, NSUN2, TWIST1, IL1RAPL1, ARHGEF6, NSDHL, SOX3, SLC16A2, BRWD3, ZDHHC9, RAB40AL, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, USP9X, UPF3B, UBE2A, TSPAN7, EBP, DLG3, MAGT1, LAMP2, MBTPS2, AFF2, AGTR2, HUWE1, IGBP1, PHF8, CANT1, NLGN3, CTNNB1, ARID1B, AP1S2, EHMT1, FOXP1, KIRREL3, SOX10, ERCC3, ERCC2, SHANK2, SHANK3, LBR, TBX1, GFAP, VPS13B, ZEB2, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, KDM5C, PAK3, GRIA3, SYP, FGD1, IQSEC2, ATRX, SMS, OFD1, CNTNAP2, KCNJ10, SAMHD1, SPTAN1, PIGV, DYRK1A, GRIN1, NRXN1, SCN8A, ST3GAL3, ATP13A2, MFSD8, TUBB2B, SRPX2, PAFAH1B1, TUBA8, PQBP1, PIGO, TBC1D24, MBD5, GRIN2A, GABRG2, CHRNA4, KCNQ2, GRIN2B, PRICKLE1, KCTD7, CPA6, ATP1A2, ASPM, MCPH1, ITGA7, LARGE1, LAMA2, FGF14, GRM1, SIL1, SYT14, POMT1, POMT2, DYNC1H1, BIN1, KIF1A, L1CAM, KIF5A, AVPR2, GHR, POU1F1, KCNJ11, FGFR1, NF1, FKRP, AHI1, MAPT, SCN1A, ZFYVE26, ATL1, SPTLC1, MPZ, TMEM216, DPYD, RAPSN, PLA2G6, POMGNT1, MCOLN1, TH, SACS, SLC7A7, SGCA, PEX7, FKTN, PRKAR1A, BRIP1, CDKN1C, NBN, ATM, NIPBL, TSC1, SMC1A, SYNGAP1, TSC2, HDAC8, FGFR2, WDR62, TINF2, SLC2A1, RAI1, PTPN11, PLP1, PCDH19, NPC2, NPC1, MEF2C, KRAS, IDS, FOXG1, DMD, DHCR7, CHD7, CDKL5, GBA, ARX, AR, FGFR3, TSHR, HPD, PDHX, MTFMT, SLC6A8, KIF21A, PPOX, CLN3, SOX2, BBS9, MGAT2, CYP27A1, ASS1, GLYCTK, GALE, GBE1, CBS, SLC25A15, ALDH4A1, SUCLG1, MAN2B1, MANBA, DBT, CYB5R3, NDUFAF5, NDUFS1, NDUFA1, MOCS2, SGSH, GUSB, CTSA, PAH, ACOX1, SLC35C1, HEXB, GM2A, LMBRD1, MMADHC, ABCD1, SLC9A6, AMER1, ACSL4, AIFM1, D2HGDH, STRA6, MYO7A, MPI, ALG6, ALG12, AP3B1, COG7, GFM1, HAX1, TUSC3, DARS2, TUBA1A, STXBP1, SPR, GAMT, SLC25A12, PHKG2, PYGL, XPNPEP3, PHKA2, TMEM70, ALDH18A1, PDSS1, FBN1, MECP2, SLC25A13, GCK, HSPD1, CEP290, MKKS, NPHP3, TMEM67, NDP, ELOVL4, HSD17B10, SRD5A3, CC2D2A, GNPTAB, PYCR1, ACY1, TBCE, SLC5A5, WRN, ORC1, CC2D1A, CRBN, GRIK2, MAN1B1, PRSS12, TRAPPC9, CDH15, SOBP, MED23, TECR, CACNG2, CRADD, MED17, CCDC88C, PDE4D, ZFP57, HEPACAM, PIGL, TTC37, GSS, STAT5B, LIG4, NHEJ1, G6PC3, STX11, ERCC8, INSR, MYO5A, DHCR24, RFX6, SLC2A2, APOB, MAT1A, SLC20A2, TPK1, SLC46A1, TMEM165, COG5, ALG11, VLDLR, MYCN, RBBP8, CPS1, MTR, TUBB3, PAX6, COL1A2, LRP5, FBLN5, ADSL, BCS1L, AUH, ATP7A, ARG1, GYS2, ACAT1, AGL, MCCC2, MCCC1, PTEN, UBE3A, TTR, MTHFR, FMR1, F5, BRCA2 Specificity 1 % Genes 3 %
Joubert and Meckel NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. PMPCA, B9D2, ARL13B, CEP41, KIF7, RPGRIP1L, TCTN2, TMEM138, TMEM237, B9D1, OFD1, AHI1, TMEM216, MKS1, CEP290, NPHP1, NPHP3, TMEM67, CC2D2A Specificity 6 % Genes 3 %
XLID NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. ZNF674, PGK1, CNKSR2, CCDC22, FRMPD4, ZCCHC12, WDR13, FAAH2, GSPT2, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SOX3, SLC16A2, TAF1, CLIC2, BRWD3, ZDHHC9 , (...) View the complete list with 87 more genes Panel GTR000510916 complete gene list ZNF674, PGK1, CNKSR2, CCDC22, FRMPD4, ZCCHC12, WDR13, FAAH2, GSPT2, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SOX3, SLC16A2, TAF1, CLIC2, BRWD3, ZDHHC9, RAB40AL, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, USP9X, UPF3B, UBE2A, TSPAN7, EBP, DLG3, DKC1, FANCB, ZNF41, ZNF711, MAGT1, LAMP2, MBTPS2, AFF2, AGTR2, HUWE1, IGBP1, PHF8, NLGN3, NLGN4X, AP1S2, MED12, MID1, PTCHD1, PRPS1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, NEXMIF, SRPX2, FLNA, PQBP1, DCX, MTM1, L1CAM, GPC3, SMC1A, HDAC8, PORCN, PLP1, PCDH19, IDS, DMD, CDKL5, ARX, NDUFA1, ABCD1, BCOR, SLC9A6, ACSL4, MAOA, AIFM1, TIMM8A, GK, PDHA1, HCCS, OTC, MECP2, NHS, HPRT1, NDP, OCRL, HSD17B10, ATP7A, FMR1 Specificity 1 % Genes 3 %
Congenital Hepatic Fibrosis NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. EVC2, EVC, ARL13B, GLIS2, IFT80, NEK8, RPGRIP1L, TTC21B, OFD1, PKD1, PKD2, AHI1, PKHD1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12 , (...) View the complete list with 14 more genes Panel GTR000511140 complete gene list EVC2, EVC, ARL13B, GLIS2, IFT80, NEK8, RPGRIP1L, TTC21B, OFD1, PKD1, PKD2, AHI1, PKHD1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, IQCB1, NPHP4, TRIM32, TTC8, CEP290, MKKS, NPHP1, NPHP3, ARL6, TMEM67, CC2D2A, INVS Specificity 3 % Genes 3 %
Comprehensive Epilepsy NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. RANGAP1, EFHC2, CELSR1, NIPA2, UBR5, VDAC1, BRD2, RBFOX3, KPNA7, CNTN2, ARHGEF15, PIK3AP1, FASN, RYR3, GABBR2, HCN2, TNK2, SRGAP2, GPHN, SLC12A5 , (...) View the complete list with 427 more genes Panel GTR000531707 complete gene list RANGAP1, EFHC2, CELSR1, NIPA2, UBR5, VDAC1, BRD2, RBFOX3, KPNA7, CNTN2, ARHGEF15, PIK3AP1, FASN, RYR3, GABBR2, HCN2, TNK2, SRGAP2, GPHN, SLC12A5, HDAC4, SLC6A5, GLRA1, GLRB, DHFR, SCN10A, BUB1B, MAPK10, COL18A1, ACY1, KCNH5, C12orf57, ANK3, MED17, CCDC88C, SNAP29, ASNS, LIG4, NHEJ1, AKT3, SLC46A1, COX10, ARL13B, RPGRIP1L, PGK1, ADAR, SMARCA2, KDM6A, SCN4B, SCN3B, SCN2B, GLI3, GNPTG, ATR, PCNT, FLVCR2, CDK5RAP2, GLI2, CDON, NODAL, ABCB1, CEP152, ZIC2, TGIF1, TUBB2A, TSEN2, TSEN34, VANGL1, MTOR, NEDD4L, CLCN2, CCL2, SPRED1, CLCN4, UBE2A, NEU1, CLCNKA, KAT6B, PEX5, PEX12, PEX26, PEX3, PEX14, MED12, NTNG1, FUCA1, PEX6, ATP2A2, LBR, TBX1, VPS13A, GFAP, VPS13B, TREX1, ZEB2, SETBP1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, BCKDK, PIGO, BRAT1, PRRT2, DEPDC5, TBC1D24, ALG13, SLC4A10, SCN5A, SCARB2, KCNMA1, MBD5, HCN4, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, SCN3A, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, GABRD, GABRB2, FOLR1, SLC6A1, SLC35A2, STX1B, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, PRICKLE2, PRICKLE1, KCNH2, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, CRH, EFHC1, CPA6, CHRNB2, CACNA1H, ATP1A2, ASPM, MCPH1, LARGE1, DPM2, LAMA2, SLC1A3, CACNB4, KCNA1, POMT1, POMT2, VRK1, DYNC1H1, KCNJ1, CLCNKB, CASR, FGF8, KCNJ11, NF1, CACNA1A, SCN4A, FKRP, NOTCH3, AHI1, SCN1A, CSTB, EIF2B4, EIF2B2, EIF2B3, TMEM216, DPYD, PLA2G6, EIF2B5, CLN5, ABCC8, SUMF1, SLC17A5, POMGNT1, PEX1, MCOLN1, MLC1, PEX7, PPT1, PEX2, FKTN, CLN8, CLN6, HNRNPH1, KCNAB2, GPC3, PTCH1, NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, CBL, TSC2, MAP2K2, WDR62, SOS1, SLC2A1, SHOC2, RAI1, PTPN11, PLP1, PCDH19, NRAS, NPC2, NPC1, MEF2C, MAP2K1, KRAS, IDUA, IDS, HRAS, FOXG1, EIF2B1, DHCR7, CHRNA7, CDKL5, BRAF, ARX, ASPA, ARSA, FGFR3, HPD, MOGS, DPAGT1, DOLK, ARSB, AGA, SDHA, SLC6A8, FARS2, TACO1, WWOX, CLN3, TPP1, APTX, PMM2, MGAT2, LRPPRC, GCDH, ETFDH, ETFA, ETFB, L2HGDH, SLC25A15, ALDH4A1, GALC, NDUFV1, NDUFS1, NDUFA1, MOCS1, MOCS2, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, CTSA, QDPR, ALDH7A1, SLC35C1, HEXB, ALDH5A1, SUOX, HEXA, SLC9A6, PDHA1, ALG3, MPI, ALG6, SLC35A1, SCO2, AMT, GLDC, GCSH, GLUD1, B4GALT1, ALG12, COQ2, GRN, ALG2, ALG8, ALG1, ATIC, ALG9, COG7, DPM1, MPDU1, SLC25A22, CTSD, KCNV2, COG8, COG1, RARS2, TUBA1A, RFT1, COQ8A, STXBP1, GATM, GAMT, DPM3, SLC25A12, ABAT, TMEM70, BOLA3, LIAS, PDSS1, PDSS2, COQ9, MECP2, SMPD1, FH, RAF1, PANK2, SLC25A19, NDUFS4, POLG, DLD, ME2, SHH, CEP290, ADGRV1, NPHP1, TMEM67, HSD17B10, GNE, ATP6V0A2, PRODH, CC2D2A, GLB1, GNPTAB, SERPINI1, KIF1BP, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, PNKP, SPTAN1, PLCB1, PIGV, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, KANSL1, ST3GAL3, WDR45, GNAO1, SZT2, NEXMIF, NR2F1, DOCK7, SLC13A5, KCNB1, PURA, SNAP25, SIK1, DNM1, KCNA2, EEF1A2, TBL1XR1, HNRNPU, MAGI2, CACNA2D2, RBFOX1, KMT2D, ATP13A2, MFSD8, DNAJC5, CTSF, TUBB2B, SRPX2, STIL, ADGRG1, PAFAH1B1, TSEN54, FLNA, TUBA8, RELN, SIX3, RAB3GAP1, PQBP1, NDE1, QARS, EMX2, DCX, CENPJ, ARFGEF2, COL4A1, PSAP, CPT2, AMACR, PAX6, ADSL, C12orf65, TWNK, BCS1L, AUH, ATPAF2, BTD, ARG1, PC, UBE3A, MTHFR Specificity 1 % Genes 3 %
KidneySeq - 264 Genes. By Iowa Institute of Human Genetics University of Iowa in United States. FN1, FAN1, DSTYK, CHD1L, SIX2, ARHGAP24, NUP107, NUP93, NUP205, FAT1, XPO5, SGPL1, TRAP1, UPK3A, AGTR1, TBX18, EHHADH, ANLN, FGF20, KCTD1 , (...) View the complete list with 232 more genes Panel GTR000528276 complete gene list FN1, FAN1, DSTYK, CHD1L, SIX2, ARHGAP24, NUP107, NUP93, NUP205, FAT1, XPO5, SGPL1, TRAP1, UPK3A, AGTR1, TBX18, EHHADH, ANLN, FGF20, KCTD1, ITGA8, PTPRO, EMP2, PBX1, ROBO2, ARHGDIA, SOX17, EGF, CNNM2, LYZ, TRPM6, SLC5A1, SLC5A2, FXYD2, SLC7A9, SLC2A9, SLC22A12, CLDN19, CLDN16, WNK4, CUL3, MYO1E, GDNF, B2M, WDR73, SRGAP1, DMP1, SLC34A3, CLCN5, ENPP1, CRB2, NEK1, WNT4, FREM2, GRIP1, DYNC2H1, ANKS6, CEP83, ZNF423, CEP164, CSPP1, KIF14, TMEM107, IFT172, IFT74, C2CD3, TCTN3, NOTCH2, HOGA1, SMARCAL1, TNFRSF1A, ITGB4, ITGA3, ATP6V0A4, SLC4A1, COQ8B, BMP4, FREM1, VIPAS39, VPS33B, FGA, SLC2A2, B9D2, GREM1, APOA1, IFT122, ARL13B, GLIS2, IFT80, CPLANE1, CEP41, IFT43, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, KLHL3, APOL1, DGKE, NR3C2, CFI, CD2AP, SALL4, MEFV, ZMPSTE24, SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, WDR19, SLC4A4, IFT140, DHTKD1, KCNJ5, GLI3, TNXB, CLCNKA, WDR35, FOXP1, SEMA3E, MYH9, GATA3, SIX1, SIX5, NLRP3, COL4A6, CACNA1D, CD151, ATP6V1B1, SALL1, OFD1, KCNJ10, COL4A1, SCARB2, CACNA1H, FGF23, PKD1, PKD2, COL4A5, SLC12A1, KCNJ1, TRPC6, CLCNKB, PLCE1, BSND, SCNN1B, SCNN1G, SCNN1A, ACTN4, PHEX, AQP2, AVPR2, LAMB2, COL4A4, UMOD, INF2, HNF4A, HSD11B2, ANOS1, CASR, FGFR1, ATXN10, AHI1, APOE, WNK1, LMNA, TMEM216, PKHD1, SLC17A5, GRHPR, NPHS1, NPHS2, CTNS, COL4A3, GPC3, DLG1, SLIT2, KIF12, DLC1, E2F3, DACH1, SLC41A1, MAGED2, ADCY10, TSC1, TSC2, VDR, GLA, DHCR7, CREBBP, CHD7, APRT, GSN, PAX2, LMX1B, ALMS1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, PMM2, SLC3A1, CA2, AGXT, CUBN, XDH, COQ2, ALG1, IQCB1, SLC9A3R1, CYP24A1, XPNPEP3, FAH, SARS2, C8orf37, COQ6, PDSS2, CYP11B1, NPHP4, TRIM32, TTC8, CEP290, MKKS, NPHP1, NPHP3, ARL6, TMEM67, HPRT1, JAG1, OCRL, CC2D2A, INPP5E, RET, HNF1B, WT1, SLC34A1, EYA1, INVS, ATP7B, VHL, TTR Specificity 1 % Genes 3 %
Primary Immunodeficiency Panel. By Blueprint Genetics in Finland. BCL11B, OTULIN, IRF2BP2, RASGRP1, CARMIL2, ZNF341, TFRC, POLE2, HYOU1, JAK1, ARPC1B, BACH2, LAT, MRTFA, MSN, GINS1, CD59, ADAM17, BCL10, IRF8 , (...) View the complete list with 255 more genes Panel GTR000552725 complete gene list BCL11B, OTULIN, IRF2BP2, RASGRP1, CARMIL2, ZNF341, TFRC, POLE2, HYOU1, JAK1, ARPC1B, BACH2, LAT, MRTFA, MSN, GINS1, CD59, ADAM17, BCL10, IRF8, CD247, CD8A, MTHFD1, STAT2, EXTL3, SMARCD2, WDR1, CD70, CORO1A, CD3G, TCF3, IL17RA, TRAF3IP2, MALT1, IL21R, IL21, NFKB1, COPA, CEBPE, COLEC11, TMC8, TMC6, CFP, PEPD, ITGB2, NCF1, CD79B, IGLL1, CD79A, BLNK, PLCG2, C1QB, RBCK1, C1QA, ACP5, C1QC, RNF31, IL10, DDX58, IL1RN, PSENEN, NCSTN, TNFAIP3, NLRP1, CARD14, IL36RN, SPINK5, SERPING1, TRNT1, RNF168, CLPB, USP18, RNU4ATAC, DNMT3B, IL2RA, SAMD9L, SAMD9, CARD11, TMEM173, NLRP12, UNC93B1, C2, DNAJC21, PGM3, PSTPIP1, PRKCD, ISG15, IL12B, ADA2, CFD, TYK2, PRKDC, IL10RB, ICOS, CD81, CR2, CD19, CARD9, ACD, PIK3R1, TTC7A, SMARCAL1, NLRC4, JAGN1, IL10RA, EPG5, CTLA4, NFKB2, TNFRSF1A, STK4, RFXAP, RFXANK, RFX5, IL12RB1, CIITA, WIPF1, CD27, FADD, NFKBIA, LRBA, IRAK4, PIK3CD, LPIN2, FOXN1, ORAI1, PTPRC, STAT5B, LIG4, NHEJ1, CXCR4, RAC2, LAMTOR2, GFI1, VPS45, G6PC3, ITK, STXBP2, CASP10, FASLG, XIAP, ELANE, STX11, FAS, UNC13D, CD3D, CD3E, IFNGR2, IFNGR1, CD40LG, CD40, AICDA, TNFRSF13B, CSF3R, IKZF1, MYD88, STIM1, RAB27A, MYO5A, FERMT3, SLC46A1, USB1, SRP72, MASP1, SLC29A3, DGKE, NOD2, C1S, NOP10, NHP2, WRAP53, CTC1, THBD, C3, CD46, CFH, CFI, CFB, JAK3, NCF4, NCF2, SH2D1A, MEFV, ADAR, IFIH1, HELLS, PSMB8, CSF2RB, CSF2RA, DOCK8, PARN, TERT, TERC, LYST, UNC119, CTSC, DKC1, MAGT1, FOXP3, MVK, NLRP3, ACTB, TBX1, VPS13B, TREX1, OFD1, RNASEH2B, RNASEH2C, RNASEH2A, SAMHD1, PIGA, BTK, WAS, RTEL1, SLC7A7, DCLRE1C, CYBB, G6PD, PRF1, SBDS, GATA2, NBN, MRE11, ATM, TINF2, RMRP, NRAS, KRAS, CHD7, CDCA7, NSMCE3, IFNAR2, CD55, RORC, DCLRE1B, DOCK2, MAP3K14, IL17RC, TAPBP, TAP2, TNFRSF4, RHOH, SP110, RPSA, IKBKB, LCK, CTPS1, ERCC6L2, ZBTB24, POLE, ZAP70, RAG1, RAG2, IL7R, BLM, CFTR, AIRE, PNP, IL2RG, MOGS, ADA, STAT3, CYBA, SLC35C1, AK2, TCN2, TAP1, UNG, AP3B1, HAX1, CLCN7, CASP8, SLC37A4, STAT1, RECQL4, PMS2 Specificity 1 % Genes 3 %
Cystic Kidney Disease Panel. By Blueprint Genetics in Finland. MAPKBP1, GANAB, SEC61A1, DZIP1L, CRB2, ANKS6, CEP83, ZNF423, CEP164, IFT172, NOTCH2, GLIS2, NEK8, RPGRIP1L, TTC21B, SDCCAG8, WDR19, SIX5, DCDC2, OFD1 , (...) View the complete list with 20 more genes Panel GTR000552730 complete gene list MAPKBP1, GANAB, SEC61A1, DZIP1L, CRB2, ANKS6, CEP83, ZNF423, CEP164, IFT172, NOTCH2, GLIS2, NEK8, RPGRIP1L, TTC21B, SDCCAG8, WDR19, SIX5, DCDC2, OFD1, COL4A1, PKD1, PKD2, UMOD, PKHD1, TSC1, TSC2, PAX2, IQCB1, NPHP4, CEP290, NPHP1, NPHP3, TMEM67, JAG1, HNF1B, LRP5, EYA1, INVS, VHL Specificity 3 % Genes 3 %
Ataxia Panel. By Blueprint Genetics in Finland. CWF19L1, TMEM240, SNX14, WDR81, RUBCN, LMNB1, ITM2B, STUB1, RNF216, ELOVL5, NOL3, GRID2, LAMA1, SLC52A2, EBF3, ATCAY, BEAN1, CAMTA1, ATP8A2, UBA5 , (...) View the complete list with 137 more genes Panel GTR000552801 complete gene list CWF19L1, TMEM240, SNX14, WDR81, RUBCN, LMNB1, ITM2B, STUB1, RNF216, ELOVL5, NOL3, GRID2, LAMA1, SLC52A2, EBF3, ATCAY, BEAN1, CAMTA1, ATP8A2, UBA5, SERAC1, COX20, CA8, CCDC88C, ZNF423, TCTN3, SLC25A46, GSS, SLC20A2, MARS2, VLDLR, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, COASY, CP, CYP2U1, GBA2, TUBB4A, KIF1C, CAPN1, WDPCP, FBXL4, MME, CLCN2, TMEM231, LARS2, DNMT1, CLPP, GFAP, CASK, OPHN1, OFD1, KCNJ10, PNKP, PRRT2, GOSR2, ATP1A3, SPTBN2, TTBK2, TGM6, FGF14, PDYN, ITPR1, KCNC3, KCND3, EEF2, VAMP1, GRM1, SIL1, TDP1, ANO10, SYT14, SLC1A3, CACNB4, KCNA1, SYNE1, SETX, FA2H, PNPLA6, CACNA1A, PPP2R2B, AHI1, CSTB, ZFYVE26, TMEM216, CLN5, TTPA, SACS, PEX7, MTTP, MRE11, ATM, SLC2A1, MTFMT, HARS2, PNKD, WWOX, TPP1, APTX, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, CYP27A1, LRPPRC, FXN, HIBCH, NDUFS2, NDUFV1, NDUFAF6, NDUFS7, NDUFS8, PHYH, ALDH5A1, SLC9A6, ABCB7, SPG7, FLVCR1, DNAJC19, COQ8A, NUBPL, MTPAP, TTC19, ACO2, AFG3L2, NDUFS4, POLG, TRIM32, TTC8, CEP290, MKKS, NPHP1, ARL6, TMEM67, ELOVL4, CC2D2A, WFS1, OPA1, INPP5E, PAX6, PRKCG, TWNK, ABHD12, FDXR, FMR1 Specificity 1 % Genes 3 %
X-linked Intellectual Disability Panel. By Blueprint Genetics in Finland. ELK1, NXF5, DDX3X, ZNF674, PGK1, CLCN4, ZCCHC12, KLF8, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, SOX3, SLC16A2, TAF1, BRWD3, ZDHHC9, RPL10, RBM10, SHROOM4 , (...) View the complete list with 79 more genes Panel GTR000552805 complete gene list ELK1, NXF5, DDX3X, ZNF674, PGK1, CLCN4, ZCCHC12, KLF8, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, SOX3, SLC16A2, TAF1, BRWD3, ZDHHC9, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZC4H2, USP9X, UPF3B, UBE2A, TSPAN7, DLG3, DKC1, FANCB, ZNF41, ZNF711, MAGT1, LAMP2, MBTPS2, AFF2, HUWE1, IGBP1, PHF8, NLGN3, NLGN4X, AP1S2, MED12, MID1, PTCHD1, PRPS1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, NEXMIF, SRPX2, FLNA, PQBP1, DCX, MTM1, L1CAM, GPC3, SMC1A, PORCN, PLP1, PCDH19, IDS, CDKL5, ARX, SLC6A8, NDUFA1, ABCD1, BCOR, SLC9A6, ACSL4, MAOA, TIMM8A, GK, PDHA1, HCCS, OTC, MECP2, NHS, HPRT1, NDP, OCRL, HSD17B10, ATP7A, FMR1 Specificity 2 % Genes 3 %
Comprehensive Epilepsy Panel. By Blueprint Genetics in Finland. SNORD118, SLC39A8, YY1, TBCK, RMND1, MRPL44, GTPBP3, HECW2, WDR26, LYRM7, DARS, KCNH1, NACC1, DPYS, UNC80, FAR1, AIMP1, ECM1, GPHN, PIGT , (...) View the complete list with 263 more genes Panel GTR000552774 complete gene list SNORD118, SLC39A8, YY1, TBCK, RMND1, MRPL44, GTPBP3, HECW2, WDR26, LYRM7, DARS, KCNH1, NACC1, DPYS, UNC80, FAR1, AIMP1, ECM1, GPHN, PIGT, SLC12A5, GLRB, DHFR, FAM126A, CERS1, APOPT1, POLR3B, POLR3A, LMNB1, FGF12, RNF216, RARS, ECHS1, GNB1, UBA5, TBCD, SERAC1, TBCE, PYCR2, CC2D1A, GRIK2, SLC25A1, IBA57, ASNS, HEPACAM, DDC, EARS2, SLC46A1, CSF1R, SCO1, MARS2, CTC1, RNASET2, PGK1, AP4M1, AP4E1, AP4B1, AP4S1, ADAR, TUBB4A, HACE1, MTOR, CLCN2, NECAP1, CLCN4, TAF1, UBE2A, NEU1, MED12, SOX10, HTRA1, VPS13A, GFAP, TREX1, ZEB2, RAB39B, CUL4B, CASK, OPHN1, SYN1, KDM5C, ARHGEF9, GRIA3, PHF6, IQSEC2, ATRX, SMS, OFD1, SERPINI1, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, SAMHD1, PNKP, SPTAN1, PLCB1, PIGV, PIGN, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, ST3GAL3, WDR45, GNAO1, SZT2, DOCK7, SLC13A5, KCNB1, PURA, SNAP25, SIK1, DNM1, KCNA2, EEF1A2, SPATA5, TBL1XR1, HNRNPU, MAGI2, ATP13A2, MFSD8, DNAJC5, CTSF, FLNA, RELN, DCX, COL4A1, PIGO, BRAT1, PRRT2, DEPDC5, PRIMA1, TBC1D24, ASAH1, ALG13, SCARB2, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, GABRB2, FOLR1, SLC6A1, SLC35A2, STX1B, SYNJ1, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, PRICKLE1, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, EFHC1, CHRNB2, CACNA1H, ATP1A3, CACNB4, KCNA1, FA2H, KIF1A, CASR, GCH1, CACNA1A, NOTCH3, SCN1A, CSTB, EIF2B4, EIF2B2, EIF2B3, ZFYVE26, DPYD, EIF2B5, CLN5, SUMF1, MLC1, PPT1, CLN8, CLN6, TSC1, SYNGAP1, TSC2, SLC2A1, PLP1, PCDH19, MEF2C, GJC2, FOXG1, EIF2B1, CDKL5, ARX, ASPA, ARSA, AGA, MTFMT, SLC6A8, FARS2, WWOX, CLN3, TPP1, CYP27A1, COX6B1, LRPPRC, GCDH, ETFDH, ETFA, ETFB, L2HGDH, SLC25A15, GALC, HIBCH, NDUFAF5, NDUFS2, NDUFV1, SDHAF1, MOCS1, NDUFAF6, NDUFS7, NDUFS8, COX15, QDPR, PTS, ALDH7A1, ALDH3A2, ALDH5A1, SUOX, ABCD1, SLC9A6, AIFM1, D2HGDH, ETHE1, AMT, GLDC, GRN, GFM1, SLC25A22, CTSD, DARS2, STXBP1, GAMT, ABAT, NUBPL, TTC19, NFU1, DNM1L, MECP2, FH, FOXRED1, AFG3L2, HSPD1, NDUFS4, POLG, HSD17B10, GNE, PRODH, GLB1, PSAP, CPT2, AMACR, ADSL, BTD, ARG1, UBE3A, MTHFR, HTT Specificity 1 % Genes 3 %
Ciliopathy Panel. By Blueprint Genetics in Finland. ARMC9, TRAF3IP1, DYNC2LI1, KIAA0753, MAPKBP1, IFT81, DDX59, HYLS1, CRB2, WDR60, NEK1, CCNQ, DYNC2H1, ANKS6, CEP83, ZNF423, CEP164, CSPP1, PDE6D, KIF14 , (...) View the complete list with 79 more genes Panel GTR000552623 complete gene list ARMC9, TRAF3IP1, DYNC2LI1, KIAA0753, MAPKBP1, IFT81, DDX59, HYLS1, CRB2, WDR60, NEK1, CCNQ, DYNC2H1, ANKS6, CEP83, ZNF423, CEP164, CSPP1, PDE6D, KIF14, TMEM107, CEP120, CEP104, KIAA0556, IFT172, C2CD3, TCTN3, B9D2, ACVR2B, LEFTY2, IFT122, EVC2, EVC, ARL13B, GLIS2, IFT80, CPLANE1, CEP41, IFT43, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, ZIC3, B9D1, SDCCAG8, WDPCP, BBIP1, LZTFL1, WDR19, CENPF, IFT140, POC1B, CFAP410, GLI3, GLI2, NODAL, USP9X, WDR35, KIAA0586, TMEM231, DCDC2, OFD1, PNPLA6, PKD1, PKD2, AHI1, TMEM216, PKHD1, DHCR7, ALMS1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, PMM2, IQCB1, C8orf37, NPHP4, TRIM32, TTC8, CEP290, MKKS, NPHP1, NPHP3, ARL6, TMEM67, CC2D2A, INPP5E, INVS Specificity 2 % Genes 3 %
Congenital Hepatic Fibrosis Panel. By Blueprint Genetics in Finland. NR1H4, ANKS6, ZNF423, CEP164, TCTN3, BAAT, B9D2, ARL13B, GLIS2, CPLANE1, CEP41, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1 , (...) View the complete list with 32 more genes Panel GTR000552627 complete gene list NR1H4, ANKS6, ZNF423, CEP164, TCTN3, BAAT, B9D2, ARL13B, GLIS2, CPLANE1, CEP41, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, WDR19, WDR35, TMEM231, DCDC2, OFD1, PKD2, AHI1, TMEM216, PKHD1, LIPA, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, IQCB1, NPHP4, TRIM32, TTC8, CEP290, MKKS, NPHP1, NPHP3, ARL6, TMEM67, CC2D2A, INPP5E, INVS Specificity 2 % Genes 3 %
Joubert syndrome type 10. By Bioarray in Spain. OFD1 Specificity 100 % Genes 3 %
Orofaciodigital Syndrome Type I, Sequencing OFD1 Gene. By Reference Laboratory Genetics in Spain. OFD1 Specificity 100 % Genes 3 %
Joubert Syndrome Type 10, Sequencing OFD1 Gene. By Reference Laboratory Genetics in Spain. OFD1 Specificity 100 % Genes 3 %
Polycystic Kidney Disease. By Genome.One in Australia. GANAB, OFD1, PKD1, PKD2, UMOD, PKHD1, TSC1, TSC2, HNF1B Specificity 12 % Genes 3 %
NGS XLID Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. THOC2, CNKSR2, CDK16, CCDC22, CLCN4, FRMPD4, ZMYM3, ZCCHC12, WDR13, FAAH2, EIF2S3, LAS1L, GSPT2, KLF8, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SOX3 , (...) View the complete list with 94 more genes Panel GTR000522584 complete gene list THOC2, CNKSR2, CDK16, CCDC22, CLCN4, FRMPD4, ZMYM3, ZCCHC12, WDR13, FAAH2, EIF2S3, LAS1L, GSPT2, KLF8, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SOX3, SLC16A2, TAF1, CLIC2, BRWD3, ZDHHC9, RAB40AL, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, ZC4H2, USP9X, UPF3B, UBE2A, TSPAN7, EBP, DLG3, DKC1, FANCB, ZNF41, ZNF711, MAGT1, LAMP2, MBTPS2, AFF2, AGTR2, HCFC1, HUWE1, IGBP1, PHF8, OGT, NLGN3, NLGN4X, AP1S2, MED12, MID1, PTCHD1, PRPS1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, NEXMIF, SRPX2, FLNA, PQBP1, DCX, MTM1, L1CAM, GPC3, SMC1A, HDAC8, PORCN, PLP1, PCDH19, IDS, DMD, CDKL5, ARX, NDUFA1, ABCD1, BCOR, SLC9A6, ACSL4, MAOA, AIFM1, TIMM8A, GK, HCCS, OTC, MECP2, NHS, HPRT1, NDP, OCRL, HSD17B10, ATP7A, FMR1 Specificity 1 % Genes 3 %
Comprehensive Brain Malformation Panel. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. DISP1, VLDLR, MYCN, RBBP8, IER3IP1, RAB18, PIK3CA, GAS1, EOMES, DLL1, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B , (...) View the complete list with 86 more genes Panel GTR000552175 complete gene list DISP1, VLDLR, MYCN, RBBP8, IER3IP1, RAB18, PIK3CA, GAS1, EOMES, DLL1, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, RAB3GAP2, GLI3, EZH2, NFIX, ATR, PCNT, CDK5RAP2, GLI2, CDON, FOXH1, NODAL, CEP152, ZIC2, TGIF1, TSEN2, TSEN34, EXOSC3, UPF3B, LAMC3, MED12, ACTG1, ACTB, ZEB2, CUL4B, CASK, OPHN1, PHF6, ATRX, OFD1, KIF1BP, TUBB2B, SRPX2, STIL, ADGRG1, PAFAH1B1, TSEN54, FLNA, TUBA8, RELN, SIX3, RAB3GAP1, PQBP1, EMX2, DCX, CENPJ, ARFGEF2, COL4A1, ASPM, MCPH1, LARGE1, POMT1, POMT2, VRK1, L1CAM, FGF8, FKRP, AHI1, TMEM216, POMGNT1, FKTN, PTCH1, NSD1, NIPBL, WDR62, FOXG1, DHCR7, CDKL5, ARX, HESX1, SOX2, MKS1, SLC9A6, MRPS16, RARS2, TUBA1A, MECP2, SLC25A19, SHH, CEP290, NPHP1, TMEM67, OTX2, CC2D2A, TUBB3, PTEN, UBE3A Specificity 1 % Genes 3 %
Joubert Syndrome. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. B9D2, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, OFD1, AHI1, TMEM216, MKS1, CEP290, NPHP1, NPHP3, TMEM67 , (...) View the complete list with 2 more genes Panel GTR000552320 complete gene list B9D2, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, OFD1, AHI1, TMEM216, MKS1, CEP290, NPHP1, NPHP3, TMEM67, CC2D2A, INPP5E Specificity 5 % Genes 3 %
X-linked Intellectual Disabilities Sequencing. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. PGK1, CNKSR2, CCDC22, FRMPD4, IL1RAPL1, NSDHL, NAA10, SOX3, SLC16A2, CLIC2, BRWD3, ZDHHC9, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, UPF3B , (...) View the complete list with 68 more genes Panel GTR000552380 complete gene list PGK1, CNKSR2, CCDC22, FRMPD4, IL1RAPL1, NSDHL, NAA10, SOX3, SLC16A2, CLIC2, BRWD3, ZDHHC9, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, UPF3B, UBE2A, TSPAN7, DLG3, DKC1, FANCB, ZNF711, LAMP2, MBTPS2, AFF2, HUWE1, IGBP1, PHF8, NLGN3, NLGN4X, AP1S2, MED12, MID1, PTCHD1, PRPS1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, NEXMIF, FLNA, PQBP1, DCX, L1CAM, GPC3, SMC1A, PORCN, PLP1, PCDH19, IDS, DMD, CDKL5, ARX, NDUFA1, BCOR, SLC9A6, ACSL4, MAOA, TIMM8A, GK, PDHA1, HCCS, OTC, MECP2, NHS, HPRT1, NDP, OCRL, HSD17B10, ATP7A, FMR1 Specificity 2 % Genes 3 %
X-Linked Intellectual Disabilities Sequencing and Deletion/Duplication. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. PGK1, CNKSR2, CCDC22, FRMPD4, IL1RAPL1, NSDHL, NAA10, SOX3, SLC16A2, CLIC2, BRWD3, ZDHHC9, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, UPF3B , (...) View the complete list with 67 more genes Panel GTR000552381 complete gene list PGK1, CNKSR2, CCDC22, FRMPD4, IL1RAPL1, NSDHL, NAA10, SOX3, SLC16A2, CLIC2, BRWD3, ZDHHC9, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, UPF3B, UBE2A, TSPAN7, DLG3, DKC1, FANCB, ZNF711, LAMP2, MBTPS2, AFF2, HUWE1, IGBP1, PHF8, NLGN3, NLGN4X, AP1S2, MED12, MID1, PTCHD1, PRPS1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, NEXMIF, FLNA, PQBP1, DCX, L1CAM, GPC3, SMC1A, PORCN, PLP1, PCDH19, IDS, DMD, CDKL5, ARX, NDUFA1, BCOR, SLC9A6, MAOA, TIMM8A, GK, PDHA1, HCCS, OTC, MECP2, NHS, HPRT1, NDP, OCRL, HSD17B10, ATP7A, FMR1 Specificity 2 % Genes 3 %
OFD1 sequencing. By Genetic Services Laboratory University of Chicago in United States. OFD1 Specificity 100 % Genes 3 %
Renal Cystic Disorders Sequencing Panel. By Genetic Services Laboratory University of Chicago in United States. REN, MUC1, CRB2, BMPER, ANKS6, CEP83, CEP164, CSPP1, PDE6D, KIF14, TMEM107, CEP104, KIAA0556, IFT172, TCTN3, NOTCH2, GLIS3, B9D2, ARL13B, GLIS2 , (...) View the complete list with 55 more genes Panel GTR000531706 complete gene list REN, MUC1, CRB2, BMPER, ANKS6, CEP83, CEP164, CSPP1, PDE6D, KIF14, TMEM107, CEP104, KIAA0556, IFT172, TCTN3, NOTCH2, GLIS3, B9D2, ARL13B, GLIS2, CPLANE1, CEP41, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, SDCCAG8, WDPCP, WDR19, IFT140, KIAA0586, TMEM231, TFAP2A, DCDC2, SALL1, OFD1, PKD2, UMOD, AHI1, TMEM216, PKHD1, CDC73, TSC1, TSC2, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, IQCB1, XPNPEP3, NPHP4, TRIM32, TTC8, CEP290, MKKS, NPHP1, NPHP3, ARL6, TMEM67, JAG1, CC2D2A, INPP5E, HNF1B, INVS, VHL Specificity 2 % Genes 3 %
OFD1 deletion/duplication analysis. By Genetic Services Laboratory University of Chicago in United States. OFD1 Specificity 100 % Genes 3 %
Macrocephaly Sequencing Panel. By Genetic Services Laboratory University of Chicago in United States. RIN2, HEPACAM, TBC1D7, RNF125, NFIA, HERC1, KPTN, GLI3, RNF135, EZH2, NFIX, BRWD3, UPF3B, MED12, RAB39B, CUL4B, OFD1, SETD2, GPC3, NSD1 , (...) View the complete list with 1 more genes Panel GTR000519523 complete gene list RIN2, HEPACAM, TBC1D7, RNF125, NFIA, HERC1, KPTN, GLI3, RNF135, EZH2, NFIX, BRWD3, UPF3B, MED12, RAB39B, CUL4B, OFD1, SETD2, GPC3, NSD1, PTEN Specificity 5 % Genes 3 %
Joubert/Meckel Gruber Syndrome Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago in United States. CSPP1, PDE6D, KIF14, TMEM107, CEP120, CEP104, KIAA0556, IFT172, TCTN3, B9D2, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B , (...) View the complete list with 13 more genes Panel GTR000560685 complete gene list CSPP1, PDE6D, KIF14, TMEM107, CEP120, CEP104, KIAA0556, IFT172, TCTN3, B9D2, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, KIAA0586, TMEM231, OFD1, AHI1, TMEM216, MKS1, CEP290, NPHP1, NPHP3, TMEM67, CC2D2A, INPP5E Specificity 4 % Genes 3 %
OFD1. By Institute for Human Genetics University Clinic Freiburg in Germany. OFD1 Specificity 100 % Genes 3 %
OFD1 Select Exons Sequencing. By GeneDx in United States. OFD1 Specificity 100 % Genes 3 %
TMEM216, AHI1, NPHP1, CEP290, TMEM67, RPGRIP1L, ARL13B, CC2D2A, OFD1, CEP41, TMEM237. NextGeneDx.Complete sequencing by NGS. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. ARL13B, CEP41, RPGRIP1L, TMEM237, OFD1, AHI1, TMEM216, CEP290, NPHP1, TMEM67, CC2D2A Specificity 10 % Genes 3 %
Joubert syndrome (NGS panel for 24 genes). By CGC Genetics in Portugal. EXOC8, ZNF423, CSPP1, PDE6D, TCTN3, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, TMEM231, OFD1, AHI1, TMEM216, CEP290 , (...) View the complete list with 4 more genes Panel GTR000523385 complete gene list EXOC8, ZNF423, CSPP1, PDE6D, TCTN3, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, TMEM231, OFD1, AHI1, TMEM216, CEP290, NPHP1, TMEM67, CC2D2A, INPP5E Specificity 5 % Genes 3 %
OFD1 -Related Disorders via the OFD1 Gene. By PreventionGenetics PreventionGenetics in United States. OFD1 Specificity 100 % Genes 3 %
Overgrowth syndrome NGS panel. By Connective Tissue Gene Tests in United States. EED, PDGFRB, EZH2, NFIX, DNMT3A, OFD1, PIGA, SETD2, GPC3, NSD1, FBN1 Specificity 10 % Genes 3 %
Overgrowth syndrome Comprehensive panel. By Connective Tissue Gene Tests in United States. EED, PDGFRB, EZH2, NFIX, DNMT3A, OFD1, PIGA, SETD2, GPC3, NSD1, FBN1 Specificity 10 % Genes 3 %
Nephronophthisis and related disorders Comprehensive panel. By Connective Tissue Gene Tests in United States. TRAF3IP1, MAPKBP1, FAN1, ANKS6, CEP83, ZNF423, CEP164, GLIS2, CEP41, NEK8, RPGRIP1L, TMEM138, TTC21B, SDCCAG8, WDR19, DCDC2, OFD1, AHI1, TMEM216, PKHD1 , (...) View the complete list with 9 more genes Panel GTR000560979 complete gene list TRAF3IP1, MAPKBP1, FAN1, ANKS6, CEP83, ZNF423, CEP164, GLIS2, CEP41, NEK8, RPGRIP1L, TMEM138, TTC21B, SDCCAG8, WDR19, DCDC2, OFD1, AHI1, TMEM216, PKHD1, IQCB1, XPNPEP3, NPHP4, CEP290, NPHP1, NPHP3, TMEM67, CC2D2A, INVS Specificity 4 % Genes 3 %
Nephronophthisis and related disorders Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. TRAF3IP1, MAPKBP1, FAN1, ANKS6, CEP83, ZNF423, CEP164, GLIS2, CEP41, NEK8, RPGRIP1L, TMEM138, TTC21B, SDCCAG8, WDR19, DCDC2, OFD1, AHI1, TMEM216, PKHD1 , (...) View the complete list with 9 more genes Panel GTR000560980 complete gene list TRAF3IP1, MAPKBP1, FAN1, ANKS6, CEP83, ZNF423, CEP164, GLIS2, CEP41, NEK8, RPGRIP1L, TMEM138, TTC21B, SDCCAG8, WDR19, DCDC2, OFD1, AHI1, TMEM216, PKHD1, IQCB1, XPNPEP3, NPHP4, CEP290, NPHP1, NPHP3, TMEM67, CC2D2A, INVS Specificity 4 % Genes 3 %
Joubert syndrome and related disorders Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. ARMC9, PIBF1, ZNF423, CSPP1, PDE6D, KIF14, TMEM107, CEP120, CEP104, KIAA0556, C2CD3, TCTN3, B9D2, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2 , (...) View the complete list with 17 more genes Panel GTR000560984 complete gene list ARMC9, PIBF1, ZNF423, CSPP1, PDE6D, KIF14, TMEM107, CEP120, CEP104, KIAA0556, C2CD3, TCTN3, B9D2, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, KIAA0586, TMEM231, OFD1, AHI1, TMEM216, SUFU, MKS1, CEP290, NPHP1, NPHP3, TMEM67, CC2D2A, INPP5E Specificity 3 % Genes 3 %
OFD1-Related Joubert Syndrome. By Bioscientia GmbH Center for Human Genetics in Germany. OFD1 Specificity 100 % Genes 3 %
Oral-facial-digital syndrome type 1. By Centogene AG - the Rare Disease Company in Germany. OFD1 Specificity 100 % Genes 3 %
Retinitis pigmentosa type 23 X-linked. By Centogene AG - the Rare Disease Company in Germany. OFD1 Specificity 100 % Genes 3 %
Joubert Syndrome Panel. By CeGaT GmbH in Germany. ZNF423, CEP164, CSPP1, PDE6D, CEP104, KIAA0556, TCTN3, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, KIAA0586, TMEM231 , (...) View the complete list with 8 more genes Panel GTR000522386 complete gene list ZNF423, CEP164, CSPP1, PDE6D, CEP104, KIAA0556, TCTN3, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, KIAA0586, TMEM231, OFD1, AHI1, TMEM216, CEP290, NPHP1, TMEM67, CC2D2A, INPP5E Specificity 4 % Genes 3 %
Epilepsy and X-linked Mental Retardation with Seizures Panel. By CeGaT GmbH in Germany. PGK1, UBE2A, MED12, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, IQSEC2, ATRX, SMS, OFD1, PCDH19 , (...) View the complete list with 5 more genes Panel GTR000522387 complete gene list PGK1, UBE2A, MED12, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, IQSEC2, ATRX, SMS, OFD1, PCDH19, CDKL5, ARX, SLC9A6, MECP2, HSD17B10 Specificity 4 % Genes 3 %
Joubert Syndrome Panel. By CeGaT GmbH in Germany. ZNF423, CEP164, CSPP1, PDE6D, CEP104, KIAA0556, TCTN3, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, KIAA0586, TMEM231 , (...) View the complete list with 8 more genes Panel GTR000522507 complete gene list ZNF423, CEP164, CSPP1, PDE6D, CEP104, KIAA0556, TCTN3, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, KIAA0586, TMEM231, OFD1, AHI1, TMEM216, CEP290, NPHP1, TMEM67, CC2D2A, INPP5E Specificity 4 % Genes 3 %
Potentially lethal skeletal disorders Panel. By CeGaT GmbH in Germany. WDR34, INPPL1, GDF5, TRIP11, SLC35D1, LIFR, FLNB, DLL3, FAM111A, RNU4ATAC, BMPER, ARSE, NEK1, WNT7A, DYNC2H1, TCTN3, IFT80, GNPAT, GLI3, SOX9 , (...) View the complete list with 24 more genes Panel GTR000527958 complete gene list WDR34, INPPL1, GDF5, TRIP11, SLC35D1, LIFR, FLNB, DLL3, FAM111A, RNU4ATAC, BMPER, ARSE, NEK1, WNT7A, DYNC2H1, TCTN3, IFT80, GNPAT, GLI3, SOX9, NSDHL, EBP, PTH1R, CANT1, COL11A2, COL11A1, LBR, OFD1, FLNA, TRPV4, SLC26A2, PEX7, FGFR2, DHCR7, FGFR3, PPIB, FAM20C, AGPS, CRTAP, P3H1, COL1A2, COL1A1, COL2A1, ALPL Specificity 3 % Genes 3 %
Joubert Syndrome. By Asper Biogene Asper Biogene LLC in Estonia. ZNF423, CSPP1, PDE6D, CEP104, KIAA0556, TCTN3, B9D2, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, KIAA0586, TMEM231 , (...) View the complete list with 9 more genes Panel GTR000553398 complete gene list ZNF423, CSPP1, PDE6D, CEP104, KIAA0556, TCTN3, B9D2, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, KIAA0586, TMEM231, OFD1, AHI1, TMEM216, MKS1, CEP290, NPHP1, TMEM67, CC2D2A, INPP5E Specificity 4 % Genes 3 %
Brain malformations. By Asper Biogene Asper Biogene LLC in Estonia. CLP1, TUBGCP6, SEPSECS, AMPD2, CEP63, KNL1, CEP135, LAMB1, SNAP29, ERMARD, KIF2A, KIF5C, TUBB, TUBG1, RTTN, TBC1D20, CCND2, ZNF423, OCLN, TCTN3 , (...) View the complete list with 125 more genes Panel GTR000553541 complete gene list CLP1, TUBGCP6, SEPSECS, AMPD2, CEP63, KNL1, CEP135, LAMB1, SNAP29, ERMARD, KIF2A, KIF5C, TUBB, TUBG1, RTTN, TBC1D20, CCND2, ZNF423, OCLN, TCTN3, NHEJ1, AKT3, PIK3R2, DHCR24, VLDLR, IER3IP1, RAB18, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, EFTUD2, KIF11, AP4M1, RAB3GAP2, TUBB4A, CHMP1A, PIEZO2, GMPPB, POMK, GPSM2, ATR, PCNT, CDK5RAP2, CEP152, TUBB2A, TSEN2, TSEN34, EXOSC3, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, FAT4, TMEM231, LAMC3, ACTG1, ACTB, ZEB2, CUL4B, CASK, OPHN1, ATRX, OFD1, KIF1BP, TCF4, PNKP, TUBB2B, SRPX2, STIL, ADGRG1, PAFAH1B1, TSEN54, FLNA, RELN, RAB3GAP1, PQBP1, NDE1, DCX, CENPJ, ARFGEF2, ASPM, MCPH1, B3GALNT2, LARGE1, RXYLT1, POMGNT2, B4GAT1, LAMA2, ISPD, POMT1, POMT2, VRK1, DYNC1H1, WASHC5, FKRP, AHI1, TMEM216, SLC12A6, POMGNT1, PEX1, PEX2, FKTN, NBN, WDR62, DHCR7, CREBBP, ARX, PDHX, MKS1, ETFDH, ETFA, ETFB, DLAT, PDHA1, AMT, GLDC, GCSH, PDP1, RARS2, TUBA1A, PDHB, MECP2, SLC25A19, DLD, CEP290, NPHP1, TMEM67, SRD5A3, ATP6V0A2, CC2D2A, INPP5E, TUBB3 Specificity 1 % Genes 3 %
Invitae Oral-Facial-Digital Syndrome Type 1 Test. By Invitae in United States. OFD1 Specificity 100 % Genes 3 %
Oral-Facial-Digital Syndrome: OFD1 Gene Deletion/Duplication. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. OFD1 Specificity 100 % Genes 3 %
X-linked Intellectual Disability: Gene Sequencing and Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. PGK1, CNKSR2, CDK16, CCDC22, FRMPD4, KLF8, IL1RAPL1, NSDHL, NAA10, SOX3, SLC16A2, CLIC2, BRWD3, ZDHHC9, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1 , (...) View the complete list with 71 more genes Panel GTR000512586 complete gene list PGK1, CNKSR2, CDK16, CCDC22, FRMPD4, KLF8, IL1RAPL1, NSDHL, NAA10, SOX3, SLC16A2, CLIC2, BRWD3, ZDHHC9, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, UPF3B, UBE2A, TSPAN7, DLG3, DKC1, FANCB, ZNF711, LAMP2, MBTPS2, AFF2, HCFC1, HUWE1, IGBP1, PHF8, NLGN3, NLGN4X, AP1S2, MED12, MID1, PTCHD1, PRPS1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, NEXMIF, FLNA, PQBP1, DCX, L1CAM, GPC3, SMC1A, PORCN, PLP1, PCDH19, IDS, DMD, CDKL5, ARX, NDUFA1, BCOR, SLC9A6, ACSL4, MAOA, TIMM8A, GK, PDHA1, HCCS, OTC, MECP2, NHS, HPRT1, NDP, OCRL, HSD17B10, ATP7A, FMR1 Specificity 2 % Genes 3 %
Joubert Syndrome NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. ARL13B, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, OFD1, AHI1, TMEM216, MKS1, CEP290, NPHP1, TMEM67, CC2D2A Specificity 6 % Genes 3 %
OFD1. By Fulgent Genetics Fulgent Genetics in United States. OFD1 Specificity 100 % Genes 3 %
Idiopathic Generalized Epilepsy NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. NIPA2, CNTN2, DHFR, CLCN2, ZEB2, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, ATRX, OFD1 , (...) View the complete list with 69 more genes Panel GTR000531698 complete gene list NIPA2, CNTN2, DHFR, CLCN2, ZEB2, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, ATRX, OFD1, CNTNAP2, TCF4, KCNJ10, NRXN1, PIGA, SCN8A, ROGDI, KANSL1, DNAJC5, SRPX2, PQBP1, DCX, PRRT2, DEPDC5, TBC1D24, SCARB2, KCNMA1, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, KCNC1, KCNQ3, KCNQ2, KCNT1, GABRD, STX1B, SCN2A, SCN1B, SCN9A, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, EFHC1, CPA6, CHRNB2, CACNA1H, CACNB4, DYNC1H1, CASR, CACNA1A, SCN1A, CSTB, GPC3, SMC1A, SYNGAP1, SLC2A1, PLP1, PCDH19, MEF2C, FOXG1, CDKL5, ARX, ALDH7A1, SLC9A6, STXBP1, MECP2, ME2, HSD17B10, ADSL, UBE3A Specificity 2 % Genes 3 %
Macrocephaly / Overgrowth Syndrome Panel. By Blueprint Genetics in Finland. EED, DIS3L2, MPDZ, CCND2, HEPACAM, KPTN, AKT1, AKT3, PIK3R2, DHCR24, PIK3CA, KIF7, GPSM2, GLI3, RNF135, EZH2, NFIX, DNMT3A, BRWD3, UPF3B , (...) View the complete list with 23 more genes Panel GTR000552655 complete gene list EED, DIS3L2, MPDZ, CCND2, HEPACAM, KPTN, AKT1, AKT3, PIK3R2, DHCR24, PIK3CA, KIF7, GPSM2, GLI3, RNF135, EZH2, NFIX, DNMT3A, BRWD3, UPF3B, HUWE1, CHD8, MED12, GFAP, RAB39B, CUL4B, SYN1, GRIA3, OFD1, PIGA, SETD2, WASHC5, L1CAM, EIF2B5, MLC1, GPC3, CDKN1C, PTCH1, NSD1, TSC1, TSC2, ASPA, PTEN Specificity 3 % Genes 3 %
Joubert Syndrome Panel. By Blueprint Genetics in Finland. ARMC9, KIAA0753, ZNF423, CEP164, CSPP1, PDE6D, TMEM107, CEP120, CEP104, KIAA0556, TCTN3, B9D2, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138 , (...) View the complete list with 16 more genes Panel GTR000552667 complete gene list ARMC9, KIAA0753, ZNF423, CEP164, CSPP1, PDE6D, TMEM107, CEP120, CEP104, KIAA0556, TCTN3, B9D2, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, CFAP410, KIAA0586, TMEM231, OFD1, AHI1, TMEM216, MKS1, CEP290, NPHP1, NPHP3, TMEM67, CC2D2A, INPP5E Specificity 3 % Genes 3 %
JOUBERT SYNDROME (JBTS). By Laboratorio de Genetica Clinica SL in Spain. ARL13B, CPLANE1, RPGRIP1L, OFD1, AHI1, TMEM216, CEP290, NPHP1, TMEM67, CC2D2A, INPP5E Specificity 10 % Genes 3 %
OROFACIODIGITAL SYNDROME TYPE 1. By Laboratorio de Genetica Clinica SL in Spain. OFD1 Specificity 100 % Genes 3 %
Joubert Syndrome , Panel Massive Sequencing (NGS) 13 Genes. By Reference Laboratory Genetics in Spain. ARL13B, CEP41, KIF7, RPGRIP1L, TMEM138, TMEM237, OFD1, AHI1, TMEM216, CEP290, TMEM67, CC2D2A, INPP5E Specificity 8 % Genes 3 %
STK36. By Fulgent Genetics Fulgent Genetics in United States. STK36 Specificity 100 % Genes 3 %
Tempus xO assay. By Tempus Labs, Inc. in United States. SETD6, PIM3, MAP3K10, PDGFA, MAP3K11, PAK2, KHSRP, WASL, CASC11, GLIS1, NRG2, SOX21, SMARCC1, CUL4A, UTY, WNT9A, TEF, CHIC1, TRIM28, CDK11B , (...) View the complete list with 1693 more genes Panel GTR000558444 complete gene list SETD6, PIM3, MAP3K10, PDGFA, MAP3K11, PAK2, KHSRP, WASL, CASC11, GLIS1, NRG2, SOX21, SMARCC1, CUL4A, UTY, WNT9A, TEF, CHIC1, TRIM28, CDK11B, JUND, CKS2, FGF21, VGLL2, MAPK11, BMX, PBX3, KDM5D, PRRX2, GFRA4, ASCL5, VEGFD, SMARCD1, EPHA6, MAPK12, HDGFL3, SMYD2, TRIM24, E2F5, CDX1, RELB, PPP6C, ZNRF3, FOXQ1, TBC1D12, YEATS4, POU2F2, PDPK1, CES1, USP9Y, ICOSLG, NKX2-8, MTCP1, HOXD11, TLX1, CCDC6, CBFA2T3, OLIG2, HLF, MLLT6, TAL2, HOXC11, LMO2, RAP1GDS1, MDS2, LYL1, SFPQ, WIF1, TRIM33, MAPK3, GID4, ZNF703, MEF2B, AURKA, TOP1, MAP3K6, FGF4, SMARCA1, SUZ12, NCOR2, FGF19, HES1, RHOA, BCL2L1, H3F3A, KLF4, CDK13, BCL11B, HLA-A, NUTM2B, NUTM2A, SSX2, ETV4, TFEB, SSX4, NR4A3, MSI2, CREB3L2, TFE3, FOXO1, ETV1, BCL3, SET, BTG1, ADGRA2, ADGRL3, AHR, AFF1, ABCC1, AATK, ACVR2A, ACSL6, ACVR1B, ADAMTS20, ADGRB3, ADGRL2, PTPN6, PTPRD, RABEP1, PSPN, PTPN2, PTPN21, PTPRK, PTPRM, PTK2B, PTK2, PTGS2, RAD51AP1, PSIP1, PTPRG, PTTG1, PTGS1, PTPRR, RAD51B, PTPRJ, RBM14, RAD52, PTK7, PRSS8, PTK6, RAB25, SETD1B, SHB, RUNX3, RPS6KB1, SKIL, SGK1, RUVBL1, RIPK2, SETDB2, SGO2, SFRP1, RHOT1, SETD7, SLC22A3, SGO1, SF1, RNF40, SF3A1, RELA, RIPK1, SLC22A2, SHC4, SHC1, SETD4, SLC22A6, SH3GL1, ROCK2, SLC22A1, SKP2, SAV1, RSPO3, RHEB, RHOB, REC8, SETMAR, ROCK1, SETDB1, REL, SLC15A2, RPS6KB2, RPA1, SETD3, SETD9, RYK, RIPK3, SKOR1, RSPO2, TAOK3, SLC47A1, SMC2, SSTR3, SLC47A2, STAT6, SUV39H1, SMAD5, SSTR1, SMC6, STK36, TCF7L1, TEC, SMYD3, STARD3, SMYD5, SMC4, SUV39H2, TAOK2, SYK, TCL1A, SPDEF, SMC1B, TAOK1, SLCO2B1, TEAD3, STK19, SMARCA5, SSTR2, TEAD4, SPOPL, SP3, TAF1L, STYK1, SPEN, SLIT2, SOCS1, SLCO1A2, SMC5, TET3, SMYD4, TENM2, TEAD2, SP140L, SPI1, TERF1, STAT5A, SPRED2, SP140, TCF7, PRDM15, E2F1, CEBPB, AREG, PRKACB, PBX4, KAT5, FGF13, NFKBIB, PGF, SRMS, BBC3, SMURF1, FOSB, GUCY1A2, PHLPP1, SSTR4, ARTN, WNK2, INSRR, BUB3, CBX7, SHC3, IL13RA1, HES4, CEBPD, NFIC, IL9R, TCL1B, IL2RB, HDAC5, FKBP9, ZNF444, FGF22, ID4, SMYD1, RBMX, PRMT2, NFATC2, ZC3H12D, VGLL3, GSTT1, SPRY3, FOSL1, RBMXL1, GSK3A, ARHGAP10, WNT9B, NTF3, SPIB, SMARCD3, TNKS2, IL15RA, FGF11, RARG, VGLL4, SPRED3, SHC2, CARM1, ALKBH6, IL3RA, MAPK13, NRG4, CBX3, PDS5A, DACH2, BTG3, NKX2-4, HES2, ASCL2, MAPK14, SPOP, TFEC, SSX1, SS18, SOX8, SP100, SULT1A1, SMURF2, KMT5C, STAT4, SRGAP3, SPIC, SSX3, TBX2, ELOC, WNT11, TLR7, NSD3, WNT2B, ZNF668, ZNF471, ZC3H7B, TLK2, TLR8, WNT2, ZMYND8, WNT5B, WNT8B, TGFA, WNT7B, WWTR1, WNT16, TLR10, ZNF607, WISP1, YWHAB, WNT6, YWHAH, ZBTB33, XIRP2, XPO1, YES1, YY1, ZNF704, ZBTB7B, ZNF217, WAPL, TLX2, VHLL, VAV2, TNFRSF17, TRAF7, UBE2D2, TXK, TNK1, TRIB3, TRAF3IP3, TYRO3, UHRF2, TP53BP1, TLR9, TRRAP, TRIB2, TNFRSF14, UBE4A, TPTE, TOP2A, UGT1A4, TRAF1, VEGFB, UBE2D1, U2AF2, VGLL1, TMPRSS2, UBE2D4, TSHZ3, VAV3, TRIM66, TOP2B, VTCN1, UHRF1, PRMT5, PIK3C2G, PRDM10, PLAG1, PLCG1, PIK3R4, PRDM4, PRMT8, PRCC, PRMT3, PIK3C2B, PNRC1, PRKCI, PRDM14, PLK2, POU6F1, PREX2, PPP1R1C, PRDM11, PRDM7, PLAGL2, PRSS3, PIK3R3, PRDM6, PPFIA1, PPARD, PRMT6, POU5F1B, PIK3C2A, POU2AF1, PLK3, POU5F2, PIM1, PMAIP1, PRDM2, PRMT1, PLK1, POU5F1, PIM2, PRDM1, PIK3C3, PHLPP2, HLTF, HEY2, HIST1H3B, HIF1AN, HDAC1, HBEGF, HDGF, HDAC3, HDAC9, HEY1, GTPBP4, HIST1H1E, HDAC10, HIST1H4E, HDAC2, HIF1A, HDAC11, HCK, HDAC7, IL18RAP, AJUBA, JADE1, HOXD3, IKZF2, ID1, JUNB, IL1R2, IQGAP3, KDM2A, IKBIP, IL5RA, PVT1, PTPRB, KDM7A, IL1RAP, HOXD4, KAT8, KDM3B, ID3, KDM2B, KDM4D, IL12RB2, JAK1, KAT2A, JUN, KLF5, KDM4C, IRAK1, HOXA10, KDM1B, KAT7, HOXC10, INTS12, KMT5A, IRS4, HSPBAP1, JMJD7, IL1R1, KDM8, MAP3K21, JMJD8, ING4, HOXA9, IL20RA, HOXB3, KDM5B, KDM4B, IL6ST, JAZF1, ING1, IQGAP2, INPP4B, IL17RB, KDM3A, KLF12, KMT2E, IL3, IQGAP1, JMJD6, IFNLR1, ID2, IL22RA2, IL22RA1, IKZF3, HSP90AB1, HSP90AA1, HNRNPA3, KDM4A, ITPKB, IL20RB, JMJD4, JARID2, ARPC1B, BAZ1B, BAG4, LTK, ASPSCR1, APEX1, LRP1B, BAZ1A, LEF1, LGR6, LGR5, APH1A, LPP, LSM1, ARNT, BAZ2A, BCL2L11, BAZ2B, BACH2, LMO7, LMTK2, ASXL2, ARHGAP35, LMTK3, ARPC1A, BACH1, ATAD2, BCL2L2, AURKB, LMO1, ATF1, LATS1, BCAR3, ASCL3, ASCL4, LDB1, ASH2L, ATAD2B, LATS2, ARFRP1, LGR4, ARHGAP26, BABAM1, BCL2A1, MPG, BIRC8, MGA, MOB1B, MLLT11, MAP2K5, MINK1, MAP2K3, MAST1, MAPK6, MAP4K2, BPTF, BUB1, MAP3K13, MAST2, MDM4, MLLT10, MAML1, MATK, MAP3K9, MAP2K4, MAGED1, MAP4K3, BCL9, MAP4K5, BRD3, BTRC, MAP2K7, MOB1A, MRTFA, BIRC2, MAPK7, BTC, MCL1, MAP3K19, MAML3, MOS, MAP3K2, MAPK15, MAP3K12, BCLAF1, BRWD1, BRD7, MED12L, BRD8, EMSY, MAML2, BIRC5, BRD9, BID, MAP4, TIE1, ZNF521, TLK1, ZBTB5, WNT3A, ZNF639, YWHAZ, TLR6, WNT8A, YWHAQ, ZC3H12A, ZCCHC7, TPTE2, TNKS, UBE2D3, TLX3, TRAF2, MAPK4, BMI1, MLST8, MAP4K4, BCL7A, MAPK9, MED29, MRTFB, MAP3K5, BRD1, BRPF3, BTG2, MAD2L1, BRPF1, MAP3K15, MAP3K4, MAP4K1, MAU2, MAP2K6, NR4A1, NUTM2F, NUTM1, CAPRIN2, CHD5, MST1R, ODC1, MST1, CMPK1, NUTM2G, CHEK1, NUMBL, CHD9, CADM2, MSH4, CARD6, CHIC2, E2F3, DVL2, ELF2, ELF3, PHF1, EPHA7, FAT3, FEV, FGR, ETV3L, FGF6, FBXO8, ESPL1, ESCO1, EREG, FBXO11, ETS2, ETV7, EZH1, FGF7, FGF1, ESRRA, ERG, ETV3, FES, FER, FHIT, FEN1, EXTL1, FAT2, TENT5C, FGF18, FGF5, ETV2, ETS1, FGF2, FOXM1, FOXA3, FOXL1, FOXN3, FOXO4, FOXP4, FRS2, GABPA, FZR1, FOSL2, FYN, FOS, FRS3, FOXO3, FRK, GAB1, FUBP1, FLT3LG, NFKBIZ, NCOA2, CD274, NCOR1, CBX1, CEBPG, CDK15, NPPB, NEK11, CDK18, NCOA1, CD86, CDH10, MTDH, CD276, NFATC3, CDK1, NAB1, CDC42, CDK8, NEK4, CCND3, CDK10, CDKN1A, CDH20, NEK6, NEK7, NFIB, NKX3-1, CD1D, CD22, CDK3, CECR2, NFATC1, NQO1, CDKN3, NCK1, NKX2-3, MYB, CBX4, CDK20, CDH11, CEBPZ, CDH5, NEK5, CDK7, CDK2, CCNL1, CCNB3, CBX6, CDK14, CES2, CD28, NFATC4, CBX5, CD80, CDX2, CDC25C, CDK17, CDK9, NCOA3, NFKBID, NOTCH4, NCK2, IKBKE, IL18R1, NPR1, CDH2, CDC25B, NOTCH2NLA, CDC25A, NEK3, CCNE2, NFKBIE, NEK10, CDC20, MYBL1, NAB2, CBX8, CBFA2T2, MYOD1, GRB2, GPS2, GRK4, GSK3B, GRM8, GRK5, GRM3, GRB7, PTGIS, RAD54B, RAD54L, SSTR5, TCF7L2, PPM1D, POU6F2, NR4A2, PRKACA, MAD1L1, ALOX5, ZNF750, EPHB2, TLR2, SMAD7, MIPOL1, IL6R, IRF5, PGR, HMGA2, IRS1, IRF4, HMGA1, IRS2, IL4R, IL23R, GLCCI1, FKBP5, CREB1, CSNK1D, CD44, CHUK, ABCG2, PAK5, BAX, HSD3B1, HTR2A, TBL1X, RBM15, FOLH1, FOXA1, FOXA2, TRAF6, PIK3CG, CRKL, PIK3CB, MAPK1, GAB2, CRK, SPRY2, DOCK2, MAP3K14, IL17RC, PAX7, SEM1, SOX1, EPHB4, TRIB1, PPARA, PERP, SMAD1, ESR2, PRDM9, RBMXL2, CHD1, PAX1, RHOH, SP110, FGF16, DRD1, PRKAR1B, TAF15, EWSR1, ELP3, UBR5, AXIN1, ADRB1, SLC19A1, MYBL2, PTPRT, EGR1, ABI1, CRLF2, MLF1, INHBA, ARNT2, IKBKB, LCK, TLR5, XBP1, YAP1, CDK11A, CYP2B6, PHIP, ADAM17, KLF6, BCL10, CYP3A5, RRM1, NTF4, ESR1, SS18L1, STAG1, CRHR1, PEAR1, KMT2C, FGFR4, NTRK3, MYCL, ROS1, RPTOR, GNA13, EML4, BRD4, ARAF, NFE2L2, KEAP1, NRG1, CCNE1, IGF2, ELK1, BRD2, GLI1, STAT2, DACH1, MXD1, PRKD1, RAC1, RICTOR, EIF1AX, NRIP1, CHD3, NRG3, CARD10, CNOT3, NUP98, NUMB, CHD6, CNTFR, CSF1, CTSL, CRTC1, CRTC3, CSNK1E, COPS3, CTSS, CSK, CREM, CREB3L4, CTCFL, CRTC2, PAK1, PARP4, DCUN1D1, DDX6, PATZ1, DDR1, PDGFC, PARP2, PAK4, PAK6, DIS3, PCBP1, CYP2J2, PAXIP1, PBX2, DDX5, DIRAS3, PDCD1, PBRM1, DDIT3, DAXX, CYP2C8, DCUN1D2, PDGFD, PDCD1LG2, EPHB1, ELK4, ELF5, E2F6, EPHA3, E2F7, EBF1, DOT1L, EPHA1, ELF1, ELK3, DYRK2, PEG3, EPHB6, EHF, EPHA5, PHF2, EHMT2, EPHA8, EPHA4, DMXL1, EPGN, EPHB3, PDS5B, DNMT3L, ECT2L, ELF4, PARP1, SETD1A, KDM5A, CNKSR1, KDM6B, TRAF3IP1, CTNND1, DVL3, EED, TBX22, NKX2-6, ERBB4, JMJD1C, PPP2R1A, HDAC6, KAT2B, KMT5B, ASH1L, TRIO, MAP3K7, CIC, MAPK8, TET1, CHD4, BRDT, CBX2, PRLR, BCL11A, SMARCD2, KDM1A, AXL, PRDM13, NRTN, NONO, PRDM12, WNT4, ROR2, DNMT3B, DHH, HOXA13, ESCO2, CCND2, ZNF423, ZBTB20, MNX1, NKX2-2, IL2RA, NFIA, WNT5A, NTRK2, PRMT7, SAMD9, CARD11, POT1, TRAF3, EPOR, NOTCH2, TYK2, PRKDC, IL10RB, ICOS, PIK3R1, VKORC1, IL10RA, CTLA4, ABCC2, NFKB2, STK4, IL12RB1, CIITA, AIP, FADD, NFKBIA, PIK3CD, BCR, PTPRC, STAT5B, RAC2, GFI1, G6PC3, ITK, FASLG, XIAP, ELANE, FAS, EXT1, EXT2, AKT1, AKT3, PIK3R2, INSR, GNA11, AXIN2, POLE, ABRAXAS1, ZAP70, IL7R, CD40LG, CD40, CBLC, BCORL1, CBLB, CSF3R, CUX1, ETV6, FBXW7, IDH1, IKZF1, MYD88, PDGFRA, SF3B1, SRSF2, STAG2, TET2, U2AF1, ZRSR2, ABL1, JAK2, EGFR, TPMT, NPM1, FLT3, RARB, GFI1B, HOXA11, TBXAS1, GNAQ, GGCX, GATA6, GLIS3, BLK, PAX4, AKT2, ABCA1, ABCG1, GREM1, POLD1, APOB, PCSK9, APOA1, ACVR2B, SLC6A3, DRD2, HMGCR, CSF1R, IL11RA, MYCN, PIK3CA, GLIS2, NEK8, USB1, THPO, ERCC4, VEGFA, DIAPH2, TLR1, BDNF, SLC6A4, STK3, CDKN1B, BAP1, XRCC2, CYP2D6, FANCD2, FANCI, FANCL, FANCM, SLX4, CYP2C19, FANCE, FANCF, FANCG, FANCA, KITLG, NOD2, SMAD2, CREB3L1, WNT1, NR3C2, GNAS, NOP10, NHP2, DBH, CALR, MGMT, SH2B3, JAK3, ASXL1, KIT, EP300, ACE, MBD1, MBD3, WNK3, PRSS1, FGF10, SH2D1A, FLT4, TEK, VEGFC, NT5C2, SMARCA2, ARID1A, SMARCB1, SMARCA4, KMT2A, HELLS, SMARCE1, ARID2, ERBB3, RIPK4, NEK9, NEK2, MYL3, MYL2, DSC2, TNNT2, TPM1, JUP, DSG2, PRKAG2, TNNI3, NKX2-5, PRDM16, ACTC1, NKX2-1, CSF2RB, CSF2RA, SMAD9, TERT, BMPR1B, TERC, MAF, CDH3, CTNNA1, TFG, KDM6A, TP63, AKAP9, KCNJ5, RYR2, MITF, PKP2, CACNB2, GLI3, EZH2, NFIX, DNMT3A, ACVR1, PRDM5, MYH11, ACTA2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, ATR, GLI2, ABCB1, MTOR, SPRED1, SOX9, TWIST1, POR, RAB23, CDK16, ZMYM3, KLF8, SOX3, TAF1, BRWD3, RBM10, USP9X, DKC1, FANCB, AFF2, PHF8, FOXP3, RASA1, RPL5, GATA1, KAT6B, FAT4, LZTR1, CTNNB1, ARID1B, CACNA1C, EHMT1, FOXP1, FOXP2, MED12, MID1, DIAPH3, ROR1, GATA3, FGF3, CDC14A, PTPRQ, KCNQ1, SOX10, PAX3, DNMT1, DIAPH1, ERCC3, ERCC2, HGF, ZEB2, PICALM, ROBO2, IL17RA, TRAF3IP2, DEK, MSH3, PML, AURKC, MAFB, SOX17, EGF, PALLD, CTNNA2, RNF213, DDR2, MDM2, WNT10B, IGF1R, ETV5, MLH3, FBXW11, MALT1, SMAD6, IL21R, NFKB1, ABL2, DUSP22, DDB2, MTAP, CEBPE, ARID5B, PRPF40B, CDK12, TBX3, HDAC4, BCL2, SLC26A3, CCND1, IGF1, NR3C1, TWIST2, TMC8, CYP1A2, TMC6, FGF9, HR, XPC, RBPJ, MAP3K3, CDK19, HOXA3, GRB10, KAT6A, DDX3X, HOXB13, DHFR, KEL, HLA-B, HOXD10, NGF, CYP2C9, CD79B, CD79A, BLNK, VAV1, SLCO1B3, SLCO1B1, LIFR, WNK4, CUL3, GDNF, ASCL1, B2M, KDSR, GATA5, PLCG2, HTR1A, CARD8, PSENEN, LYN, NCSTN, TNFAIP3, ZNF384, WNT10A, KDR, FLT1, NLRP1, FLG, CTNNA3, CYLD, ALOX12B, NKX3-2, HOXD13, NSD2, GALNT12, BUB1B, RAD51, PRDM8, XPA, MAPK10, FGF12, ERCC5, CAMTA1, KMT2B, PDGFB, PDGFRB, DICER1, CDH7, CYP2R1, PAX8, ASXL3, PLAGL1, WRN, PLK4, CDC6, TCF12, ERF, CRBN, CTCF, CLIP1, SETD5, ZMYND11, CDK6, CENPE, FLI1, RUNX1T1, SRC, CDK5, FGF17, MAMLD1, FSHR, NEK1, ICK, IRF6, MAP3K1, WNT7A, SETBP1, CUL4B, KDM5C, PAK3, PHF6, ATRX, TCF4, TBL1XR1, SETD2, MAGI2, KMT2D, SCN5A, GRIN2A, CHD2, KCNH2, MCPH1, FGF14, MUSK, SMCHD1, TMEM43, SYNE1, MYBPC3, FUS, RYR1, CACNA1S, PDK1, MYH7, FGF23, GHR, CYP21A2, HSD11B2, FGF8, GNRHR, LHCGR, FGFR1, NR0B1, LRRK2, NF1, TBP, PPP2R2B, NOTCH3, PSEN2, WNK1, NTRK1, LMNA, DNM2, EGR2, NDRG1, DPYD, PKHD1, BTK, WAS, MPL, UGT1A1, G6PD, RAD51D, PMS1, BARD1, RAD51C, CDC73, PRKAR1A, PRF1, CEBPA, SBDS, PAX5, GATA2, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD, CDKN1C, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, MRE11, ATM, ALK, NSD1, NIPBL, TSC1, SMC1A, SMC3, CBL, RAD21, TSC2, MAP2K2, RIT1, HDAC8, SOS2, FGFR2, VDR, TINF2, SOS1, SHOC2, RUNX2, PTPN11, NRAS, MAP2K1, LEPR, LDLR, KRAS, HRAS, GLA, FOXG1, CREBBP, CHD7, BRAF, BLM, FANCC, ELP1, ARX, AR, FGFR3, TSHR, IL2RG, SDHA, MAK, TEAD1, PHB, PLA2G2A, PAX2, MEN1, STAT3, TMEM127, ZFHX3, NCOA4, CYP17A1, SOX2, PPP2R1B, PRKN, BCOR, AMER1, MAOA, PHOX2A, CTSD, HAX1, SDHB, IDH2, MERTK, PRPF6, GOT1, CHD1L, CD70, MAD2L2, MAP3K8, PRRX1, NUP93, FAT1, TNK2, GPC5, RXRA, CYP4F2, CYP2A6, TBX18, DVL1, RNF43, DCC, OSMR, HOXC13, IHH, IGF2R, CDKN2C, CKS1B, MECOM, RPN1, BIRC3, MYC, BCL6, LRP6, SMO, YWHAE, PTCH2, FGF20, PTPRF, CDKN2B, MLLT1, EPHA2, MLLT3, NAT2, MN1, ADRB2, NUP214, CYP3A4, AFF3, TAL1, ZBTB16, PBX1, TCF3, RARA, ERCC1, PAX9, CBFB, ERBB2, WNT3, FBN1, FH, RAF1, SDHC, KIF1B, DSP, SHH, COMT, CASP8, MC1R, RET, HNF1B, SDHAF2, PSEN1, RB1, TLR4, TGFB1, PAX6, WT1, STAT1, COL3A1, LRP5, PPARG, HNF1A, FOXL2, FKBP10, ABCB4, ABCB11, TP53, RUNX1, RECQL4, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 1 % Genes 3 %
DYX1C1. By Fulgent Genetics Fulgent Genetics in United States. DNAAF4 Specificity 100 % Genes 3 %
Primary ciliary dyskinesia type 25. By Centogene AG - the Rare Disease Company in Germany. DNAAF4 Specificity 100 % Genes 3 %
Single gene testing DYX1C1. By CeGaT GmbH in Germany. DNAAF4 Specificity 100 % Genes 3 %
GAS8. By Fulgent Genetics Fulgent Genetics in United States. GAS8 Specificity 100 % Genes 3 %
DNAJB13. By Fulgent Genetics Fulgent Genetics in United States. DNAJB13 Specificity 100 % Genes 3 %
Primary Ciliary Dyskinesia (PCD) via DNAJB13 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. DNAJB13 Specificity 100 % Genes 3 %
Primary ciliary dyskinesia (sequence analysis of DNAH11). By CGC Genetics in Portugal. DNAH11 Specificity 100 % Genes 3 %
Heart Diseases - panels. By MGZ Medical Genetics Center in Germany. TLL1, NKX2-6, NR2F2, MED13L, TAB2, SMAD6, TBX20, GATA5, ADAMTSL4, ZFPM2, NOTCH2, CFC1, GATA6, CRELD1, CITED2, GATA4, GDF1, GJA1, TBX5, VCL , (...) View the complete list with 137 more genes Panel GTR000552431 complete gene list TLL1, NKX2-6, NR2F2, MED13L, TAB2, SMAD6, TBX20, GATA5, ADAMTSL4, ZFPM2, NOTCH2, CFC1, GATA6, CRELD1, CITED2, GATA4, GDF1, GJA1, TBX5, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, TNNT2, TPM1, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, TGFB3, ACTC1, BMPR2, DNAH11, KDM6A, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, ABCC9, TGFBR2, TGFBR1, NOTCH1, FOXH1, NODAL, A2ML1, RRAS, RASA2, SPRED1, LAMP2, LZTR1, CACNA1C, KCNE1, TBX1, ZEB2, KMT2D, SCN5A, KCNH2, LARGE1, CHKB, KCNJ2, SGCD, TCAP, POMT1, POMT2, PLEC, EMD, SYNE2, TMEM43, SYNE1, ACTA1, MYBPC3, SELENON, FHL1, BAG3, LDB3, MYOT, FLNC, MYH7, DES, TTN, NF1, CAV3, FKRP, LMNA, SGCG, POMGNT1, SGCB, SGCA, FKTN, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, CHD7, BRAF, KCNQ1, SDHA, SLC25A20, SLC22A5, ETFDH, ETFA, ETFB, GBE1, CPT1A, COX15, TAZ, SCO2, GFM1, PNPLA2, SLC25A3, TMEM70, AGK, MTO1, FBN1, VCP, RAF1, CRYAB, DSP, JAG1, GNE, CPT2, ELN, GAA, ACADVL, AGL, ACADS, ACADM, ACAD9, AARS2, TTR Specificity 1 % Genes 3 %
Primary ciliary dyskinesia type 7. By Centogene AG - the Rare Disease Company in Germany. DNAH11 Specificity 100 % Genes 3 %
Primary ciliary dyskinesia. By Bioarray in Spain. DNAH11 Specificity 100 % Genes 3 %
Primary Ciliary Dyskinesia Type 7 with or without Situs Inversus , Sequencing DNAH11 Gene. By Reference Laboratory Genetics in Spain. DNAH11 Specificity 100 % Genes 3 %
DNAH11. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. DNAH11 Specificity 100 % Genes 3 %
Primary Ciliary Dyskinesia (PCD) via the DNAH11 Gene. By PreventionGenetics PreventionGenetics in United States. DNAH11 Specificity 100 % Genes 3 %
Primary Ciliary Dyskinesia 7: DNAH11-Related Primary Ciliary Dyskinesia. By MVZ Dortmund Dr. Eberhard & Partner in Germany. DNAH11 Specificity 100 % Genes 3 %
DNAH11. By Fulgent Genetics Fulgent Genetics in United States. DNAH11 Specificity 100 % Genes 3 %

Alternate names

Ciliary Dyskinesia, Primary, 1; Cild1 Is also known as pcd, ciliary dyskinesia, primary, 1, with or without situs inversus, immotile cilia syndrome;ics, polynesian bronchiectasis;pcd.

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