Pituitary Adenoma 1, Multiple Types; Pita1

Description

Mutations in the AIP gene have been found predominantly in growth hormone (GH)-secreting adenomas, but have also been found in adrenocorticotropic hormone (ACTH)-secreting, thyroid hormone (TSH)-secreting, and prolactin (PRL)-secreting pituitary tumors.Pituitary adenomas are benign monoclonal neoplasms of the anterior pituitary gland, accounting for approximately 15% of intracranial tumors. Growth hormone (OMIM )-secreting adenomas, also known as somatotropinomas, which clinically result in acromegaly, comprise about 20% of all pituitary tumors and are the second most common hormone-secreting pituitary tumor after prolactin (OMIM )-secreting tumors, which account for 40 to 45% of pituitary tumors. ACTH-secreting tumors, which result in Cushing disease, and thyrotropin (TSHB )-secreting tumors are much less common. Nonsecreting pituitary tumors, which account for about 33%, can cause symptoms due to local compressive effects of tumor growth (Vierimaa et al., 2006; Georgitsi et al., 2007; Horvath and Stratakis, 2008).Acromegaly is characterized by coarse facial features, protruding jaw, and enlarged extremities (Vierimaa et al., 2006). Familial isolated somatotropinoma (FIS) is defined as the occurrence of at least 2 cases of acromegaly or gigantism in a family that does not exhibit features of other endocrine syndromes. FIS patients tend to have onset about 4 to 10 years earlier than patients with sporadic disease (Gadelha et al., 1999; Horvath and Stratakis, 2008).Cushing disease is characterized by central obesity, moon facies, diabetes, 'buffalo hump,' hypertension, fatigue, easy bruising, depression, and reproductive disorders. Cushing disease is associated with increased morbidity and mortality, mainly due to cardiovascular or cerebrovascular disease and infections (summary by Perez-Rivas et al., 2015).Familial isolated pituitary adenoma (FIPA) and pituitary adenoma predisposition (PAP) are terms referring to families in which 2 or more individuals develop pituitary tumors. Within a family, tumor types can be heterogeneous, with members of the same family having GH-secreting, prolactin-secreting, ACTH-secreting, or nonsecreting adenomas; in contrast, some families are homogeneous with regard to tumor type. Familial isolated somatotropinoma refers specifically to GH-secreting tumors and is usually associated with an acromegaly phenotype. Thus, FIS is a subset of FIPA or PAP (Toledo et al., 2007).Schlechte (2003) discussed prolactinoma in general terms as a clinical, diagnostic, and therapeutic problem. Genetic Heterogeneity of Pituitary AdenomasAlso see pituitary adenoma-2 (PITA2 ), caused by mutation in the GPR101 gene (OMIM ); pituitary adenoma-3 (PITA3 ), caused by somatic activating mutations in the GNAS1 gene (OMIM ); pituitary adenoma-4 (PITA4 ), caused by somatic mutation in the USP8 gene (OMIM ); and pituitary adenoma-5 (PITA5 ), caused by mutation in the CDH23 gene (OMIM ).Patients with the chromosome Xq26.3 microduplication syndrome (OMIM ) have growth hormone-secreting adenomas.Familial acromegaly can also occur in association with multiple endocrine neoplasia type I (MEN1 ), Carney complex (CNC1 ), and the McCune-Albright syndrome (OMIM ).Rostomyan et al. (2015) performed a retrospective analysis of 208 patients with pituitary gigantism due to pituitary adenoma or hyperplasia. Most patients (78.4%) were male, and the median onset of rapid growth was 13 years of age for boys and 11 years for girls. Of the 143 patients who consented to genetic testing, 29% had AIP mutations, and microduplication at Xq26.3 (XLAG ) was present in 2 familial isolated pituitary adenoma kindreds and in 10 sporadic patients. Rostomyan et al. (2015) noted that no genetic etiology was identified in more than 50% of the cases, and that the genetically unexplained cases showed more aggressive disease in terms of invasion, hormone levels, and lower control rates.

Genes related to Pituitary Adenoma 1, Multiple Types; Pita1

CDH23
AIP

Clinical Features

Top most frequent phenotypes and symptoms related to Pituitary Adenoma 1, Multiple Types; Pita1

Milia
Neoplasm
Nevus
Hypertension
Cardiomyopathy
Coarse facial features
Headache
Epidermal acanthosis
Left ventricular hypertrophy
Acanthosis nigricans

And another 10 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Not enough data available about incidence and published cases.

Accelerate your rare disease diagnosis with us

Learn more

Pituitary Adenoma 1, Multiple Types; Pita1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis. By Baylor Miraca Genetics Laboratories in United States. BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513 , (...) View the complete list with 617 more genes Panel GTR000508280 complete gene list BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513, AIPL1, YARS2, ALDOA, ALDOB, USH1G, FBP1, PC, GYS2, USH1C, UQCRQ, ARG1, ANKH, UQCRB, HLCS, TYROBP, ATP5F1E, FKBP10, ATP7A, BTD, ATP7B, ATP8B1, ATPAF2, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, BEST1, TWNK, C12orf65, GAA, ADSL, FOXL2, INVS, OPN1MW, HNF1A, HBB, OPN1LW, NEUROD1, SPATA7, MMACHC, RAX, TYRP1, FBLN5, EYA1, PPARG, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, STAR, STAT1, PRKCG, OCA2, VSX1, SLC34A1, APP, SOST, AMN, SLC45A2, WT1, PAX6, TGFB1, ZEB1, ELAC2, TLR4, CHM, RB1, PSEN1, RILP, TGFBI, PITX3, TUBB3, SDHAF2, LEMD3, HNF1B, MTR, RET, MC1R, TYR, ELN, SLC37A4, PDZD7, EYA4, RP1, OPTN, GPR143, TNFRSF11A, INPP5E, ABCA12, SLC16A1, MTRR, AMACR, HSD17B4, CPS1, CPT2, OPA1, KRT5, ABCB6, TRMU, CASP8, PYCR1, CLCN7, DTNBP1, WFS1, COMT, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2, SRD5A3, GNE, HSD17B10, OCRL, FOXC1, ELOVL4, PITX2, ABCA4, JAG1, CACNA1F, MFRP, NDP, OTX2, CYP1B1, CNGB3, HPRT1, NHS, TMEM67, KCNJ13, ARL6, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4, PCDH15, SHH, ME2, PRPH2, DSP, AASS, DLD, POLG, NDUFS4, HSPD1, SLC25A19, SLC25A4, GCK, GARS, AFG3L2, CYP11B1, FOXRED1, RRM2B, NDUFAF2, KIF1B, ALAS2, SLC25A13, MFN2, CRYAB, SDHC, PANK2, HADHA, RAF1, OPA3, FH, VCP, TULP1, SAG, RPGRIP1, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, GUCY2D, CRX, CRB1, SMPD1, MECP2, CYP11B2, FBN1, SLC26A4, WHRN, MTO1, CDH23, COQ9, PDSS2, PDSS1, COQ6, MRPL3, ACO2, NDUFA12, IDH3B, DHODH, DDOST, HARS, C8orf37, LIAS, NDUFB3, GPD1, NDUFA9, COX14, AGK, ALDH18A1, GOT1, HPS1, DNM1L, DGUOK, BOLA3, ACSF3, GPX1, DIABLO, LDHB, PDHB, ALDH6A1, CAT, HP, BLOC1S3, HPS6, HPS5, HPS4, HPS3, ACAT2, TMEM70, HAGH, PRPF6, SERPINF1, MERTK, DHDDS, SP7, SARS2, SLC24A1, GUCA1B, PDE6A, CCDC39, RGR, CNGB1, NFU1, RS1, PHKA2, FAH, PCK2, NDUFAF1, HMGCL, CCDC28B, HSD3B2, TTC19, GNAT2, MSRB3, MTPAP, XPNPEP3, FYCO1, FAM161A, TAT, NDUFA10, NUBPL, PYGL, G6PC, CYP24A1, CNGA1, NRL, CYP11A1, SCP2, CDHR1, IDH2, KARS, SPTLC2, RP1L1, PDE6G, IMPG2, GPI, GCKR, PCARE, GRK1, LRAT, CAVIN1, TSPAN12, TRPM1, ABAT, PDE6C, GFER, PHKG2, TLR3, TMEM126A, SLC25A12, KLHL7, DPM3, PGM1, LDHA, ENO3, ADAM9, GAMT, GATM, SPR, COX4I2, RDH12, SOD2, AK1, RPL35A, PLOD3, SDHB, SLC39A13, SLC9A3R1, STXBP1, SUCLA2, COQ8A, RFT1, CYCS, MRPS22, TUBA1A, GYS1, RARS2, ACAD8, COG1, COG8, DARS2, TUSC3, P3H1, SLC25A3, HAX1, PNPLA2, CRTAP, TUFM, RD3, PRCD, TSFM, MRPS16, CACNA2D4, GNAT1, CABP4, SNRNP200, KCNV2, HTRA2, SEMA4A, ALDH2, REEP1, DNAJC19, POLG2, CTSD, ACADSB, TOPORS, SECISBP2, TK2, SLC25A22, IQCB1, PLOD2, MPDU1, GFM1, FLVCR1, HADHB, DPM1, PDP1, COG7, ALG9, ATIC, ALG1, RGS9, CERKL, MEF2A, AP3B1, UNG, ALG8, FSCN2, ALG2, GRN, NDUFA13, UCP2, COQ2, SPG7, ALG12, B4GALT1, GLUD1, PARK7, PCCB, PCCA, HMGCS2, PINK1, GCSH, GLDC, AMT, DMGDH, C1QTNF5, CISD2, TAP1, LCA5, SCO2, RIMS1, SLC35A1, GAD1, ALG6, TYMP, EYS, MPI, ETHE1, GUCA1A, SQSTM1, PHOX2A, GJA3, UCP1, UCP3, PPARGC1B, RNASEL, MYO7A, STRA6, ALG3, PITPNM3, CA4, D2HGDH, PUS1, PRPF31, AGPS, PRPF8, RP2, OTC, FRMD7, NYX, HCCS, PDHA1, GK, TIMM8A, TAZ, ABCB7, AIFM1, MAOA, PHKA1, ACSL4, AMER1, SLC9A6, BCOR, ABCD1, XDH, MMADHC, LMBRD1, ABHD5, TCN2, HEXA, GM2A, SUOX, ALDH5A1, ALDH3A2, SARDH, HEXB, LPIN1, AK2, PHYH, SLC35C1, NT5C3A, ALDH7A1, CTSK, CYP27B1, ACOX1, PHKB, PGAM2, PTS, QDPR, PAH, CUBN, GIF, AGXT, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, PPIB, OAT, GRM6, MPV17, NME1, CTSA, NDUFA2, COX15, SURF1, NDUFS8, NDUFS7, NDUFS3, NDUFAF6, ISCU, CPT1A, CHAT, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH, MOCS2, MOCS1, SDHAF1, NDUFAF3, NDUFA1, NDUFA11, NDUFAF4, NDUFS1, NDUFV1, NDUFV2, NDUFS6, NDUFS2, NDUFAF5, MCEE, MMAB, MMAA, MUT, CYB5R3, CYB5A, HIBCH, DBT, MANBA, MAN2B1, MLYCD, SUCLG1, DLAT, GALC, OXCT1, IVD, ALDH4A1, TNFRSF11B, SLC25A15, NAGS, L2HGDH, CBS, HK1, CYBA, PFKM, PYGM, GBE1, ETFB, ETFA, ETFDH, GCDH, GALT, GALE, GALK1, FXN, GLYCTK, LRPPRC, FASTKD2, COX6B1, SLC3A1, CNGA3, ASS1, CYP27A1, SIX6, SLC22A5, SLC25A20, MGAT2, PMM2, PRKN, PPP2R1B, CYP4V2, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, APTX, ASL, SOX2, SLC25A38, GLRX5, TPP1, CLN3, ALMS1, OGDH, CYP17A1, NCOA4, ANKRD26, HESX1, SLC22A4, RP9, FECH, ZFHX3, PPOX, TMEM127, SEPT9, LMX1B, RPS14, STAT3, OGG1, MYOC, TIMP3, RDH5, KIF21A, FZD4, WWOX, MEN1, COL5A1, COL5A2, SNCB, EFEMP1, GPD2, KRT12, KRT3, CPOX, PAX2, PNKD, AKAP10, PLA2G2A, PHB, TEAD1, SOD1, NEFH, GSN Specificity 1 % Genes 50 %
CDH23 Sequence Analysis. By Baylor Miraca Genetics Laboratories in United States. CDH23 Specificity 100 % Genes 50 %
CDH23 Sequence Analysis (Familial Mutation/Variant Analysis). By Baylor Miraca Genetics Laboratories in United States. CDH23 Specificity 100 % Genes 50 %
CDH23 Sequence Analysis (Prenatal Diagnosis). By Baylor Miraca Genetics Laboratories in United States. CDH23 Specificity 100 % Genes 50 %
GeneAware Complete Panel Version 2 (Female). By Baylor Miraca Genetics Laboratories in United States. FMR1, UBE3A, ACADM, AGL, ACADVL, ALDOB, PC, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPT2 , (...) View the complete list with 139 more genes Panel GTR000553929 complete gene list FMR1, UBE3A, ACADM, AGL, ACADVL, ALDOB, PC, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPT2, GNPTAB, GLB1, GNE, OCRL, CYP1B1, NPHP1, CLRN1, USH2A, PCDH15, DLD, POLG, SLC25A13, HADHA, FH, SMPD1, MECP2, SLC26A4, CDH23, HPS3, DHDDS, FAH, HMGCL, G6PC, PCCB, PCCA, GLDC, AMT, MPI, ETHE1, MYO7A, OTC, ABCD1, HEXA, ALDH3A2, HEXB, CTSK, PTS, PAH, AGXT, CPT1A, CHAT, SGSH, DBT, MAN2B1, GALC, IVD, SLC25A15, CBS, GCDH, GALT, LRPPRC, ASS1, CYP27A1, SLC22A5, PMM2, BBS10, BBS1, BBS2, ASL, TPP1, CLN3, ADA, AGA, IL2RG, ARSA, ASPA, ELP1, CFTR, FANCC, GBA, BLM, DHCR7, DMD, GJB2, GJB6, IDUA, NPC1, RMRP, SMN1, ATM, NBN, ADAMTS2, CHRNE, CLN6, CLN8, COL4A3, DOK7, HBA1, LAMB3, FKTN, MTTP, G6PD, HBA2, NEB, CTNS, CYBB, PEX2, NPHS2, PROP1, NPHS1, DCLRE1C, PPT1, PEX7, SGCA, SGCB, SERPINA1, SLC7A7, SACS, SLC26A2, SLC35A3, UGT1A1, TH, GRHPR, LAMA3, MLC1, MCOLN1, MPL, PEX1, POMGNT1, RTEL1, SGCG, SLC12A6, SLC17A5, SUMF1, TTPA, WAS, ABCC8, BTK, CAPN3, CLN5, EIF2B5, LAMC2, PHGDH, PLA2G6, PKHD1, RAPSN, TGM1, DPYD, TMEM216 Specificity 1 % Genes 50 %
GeneAware Complete Panel Version 2 (Male). By Baylor Miraca Genetics Laboratories in United States. UBE3A, ACADM, AGL, ACADVL, ALDOB, PC, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPT2, GNPTAB , (...) View the complete list with 129 more genes Panel GTR000553930 complete gene list UBE3A, ACADM, AGL, ACADVL, ALDOB, PC, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPT2, GNPTAB, GLB1, GNE, CYP1B1, NPHP1, CLRN1, USH2A, PCDH15, DLD, POLG, SLC25A13, HADHA, FH, SMPD1, SLC26A4, CDH23, HPS3, DHDDS, FAH, HMGCL, G6PC, PCCB, PCCA, GLDC, AMT, MPI, ETHE1, MYO7A, HEXA, ALDH3A2, HEXB, CTSK, PTS, PAH, AGXT, CPT1A, CHAT, SGSH, DBT, MAN2B1, GALC, IVD, SLC25A15, CBS, GCDH, GALT, LRPPRC, ASS1, CYP27A1, SLC22A5, PMM2, BBS10, BBS1, BBS2, ASL, TPP1, CLN3, ADA, AGA, ARSA, ASPA, ELP1, CFTR, FANCC, GBA, BLM, DHCR7, GJB2, GJB6, IDUA, NPC1, RMRP, SMN1, ATM, NBN, ADAMTS2, CHRNE, CLN6, CLN8, COL4A3, DOK7, HBA1, LAMB3, FKTN, MTTP, HBA2, NEB, CTNS, PEX2, NPHS2, PROP1, NPHS1, DCLRE1C, PPT1, PEX7, SGCA, SGCB, SERPINA1, SLC7A7, SACS, SLC26A2, SLC35A3, UGT1A1, TH, GRHPR, LAMA3, MLC1, MCOLN1, MPL, PEX1, POMGNT1, RTEL1, SGCG, SLC12A6, SLC17A5, SUMF1, TTPA, WAS, ABCC8, CAPN3, CLN5, EIF2B5, LAMC2, PHGDH, PLA2G6, PKHD1, RAPSN, TGM1, DPYD, TMEM216 Specificity 1 % Genes 50 %
Hearing Loss Advanced Sequencing and CNV Evaluation. By Athena Diagnostics Inc in United States. ABHD12, USH1G, USH1C, ANKH, BCS1L, EYA1, COL2A1, PDZD7, EYA4, HSD17B4, OPA1, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23 , (...) View the complete list with 151 more genes Panel GTR000560763 complete gene list ABHD12, USH1G, USH1C, ANKH, BCS1L, EYA1, COL2A1, PDZD7, EYA4, HSD17B4, OPA1, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, KARS, CISD2, MYO7A, TIMM8A, AIFM1, MANBA, ALMS1, SLC22A4, HARS2, FGFR3, CHD7, GJB2, GJB6, POU3F4, FGFR2, MET, COL4A3, PEX1, PMP22, FGFR1, COL4A4, BSND, SLC12A1, COL4A5, TBC1D24, NR2F1, KCNJ10, TBX1, SALL1, ACTB, ACTG1, ADCY1, BDP1, ATP6V1B2, ATP6V1B1, CIB2, CD151, CACNA1D, CABP2, COCH, CLDN14, CCDC50, COL9A1, COL9A3, CLIC5, DLX5, GIPC3, EDN3, CLPP, HGF, EPS8, ERCC2, ERCC3, MYO3A, MYO6, MYO15A, GRHL2, HOXB1, HOMER2, COL4A6, COL9A2, COL11A1, COL11A2, CRYM, ILDR1, OTOF, DSPP, PJVK, OSBPL2, MARVELD2, POLR1C, PNPT1, NLRP3, OTOG, DIAPH1, DNMT1, DCDC2, PAX3, EDNRA, EDNRB, KCNQ4, ESPN, P2RX2, SIX5, SNAI2, SLC17A8, SERPINB6, SOX10, STRC, SLC19A2, TCOF1, SLC4A11, MT-TS1, MT-TS2, TECTA, TMPRSS3, RIPOR2, CEMIP, LARS2, MCM2, PRPS1, KCNE1, KCNQ1, PTPRQ, RDX, SIX1, SLITRK6, SMPX, TNC, TMC1, ATP2B2, CD164, CDC14A, CHSY1, GSDME, ESRRB, FGF3, FOXI1, GJB3, GATA3, LRTOMT, LHFPL5, MIR96, MYH14, MYH9, OTOA, PEX6, POU4F3, ROR1, SEMA3E, SLC26A5, S1PR2, TJP2, TFAP2A, TMIE, TRIOBP, NARS2, TSPEAR, LOXHD1, GRXCR1, TPRN, POLR1D, DIAPH3, CEACAM16, OTOGL, EPS8L2, TMEM132E, ELMOD3, SYNE4, GRXCR2 Specificity 1 % Genes 50 %
NGS Hearing Loss Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. USH1G, USH1C, EYA1, EYA4, HSD17B4, WFS1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, KARS, MYO7A, TIMM8A, MAN2B1, HARS2 , (...) View the complete list with 71 more genes Panel GTR000548231 complete gene list USH1G, USH1C, EYA1, EYA4, HSD17B4, WFS1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, KARS, MYO7A, TIMM8A, MAN2B1, HARS2, GJB2, GJB6, POU3F4, COL4A3, COL4A4, BSND, COL4A5, KCNJ10, ACTG1, ATP6V1B1, CIB2, CACNA1D, COCH, CLDN14, CCDC50, GIPC3, EDN3, CLPP, HGF, MYO6, MYO15A, GRHL2, COL11A2, CRYM, ILDR1, OTOF, PJVK, MARVELD2, DIAPH1, PAX3, EDNRB, KCNQ4, ESPN, SNAI2, SLC17A8, SERPINB6, SOX10, MT-TS1, TECTA, TMPRSS3, LARS2, PRPS1, KCNE1, KCNQ1, RDX, SIX1, SMPX, TMC1, GSDME, ESRRB, FOXI1, GJB3, LRTOMT, LHFPL5, MYH14, MYH9, OTOA, POU4F3, SLC26A5, TJP2, TMIE, TRIOBP, TSPEAR, LOXHD1, GRXCR1, TPRN, CEACAM16, MT-RNR1, GPSM2, CATSPER2, MITF Specificity 2 % Genes 50 %
OtoSCOPE. By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics in United States. USH1G, USH1C, TWNK, EYA1, COL2A1, PDZD7, EYA4, HSD17B4, OPA1, WFS1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, KARS , (...) View the complete list with 132 more genes Panel GTR000323596 complete gene list USH1G, USH1C, TWNK, EYA1, COL2A1, PDZD7, EYA4, HSD17B4, OPA1, WFS1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, KARS, CISD2, MYO7A, TIMM8A, AIFM1, ALMS1, SLC22A4, GJB2, GJB6, POU3F4, FGFR2, MET, COL4A3, PEX1, MT-TL1, FGFR1, COL4A4, BSND, COL4A5, TBC1D24, KCNJ10, TBX1, ACTG1, ADCY1, BDP1, ATP6V1B1, CIB2, CACNA1D, CABP2, COCH, CLDN14, CCDC50, COL9A1, CLIC5, GIPC3, EDN3, CLPP, HGF, EPS8, MYO3A, MYO6, MYO15A, GRHL2, HOMER2, COL4A6, COL9A2, COL11A1, COL11A2, CRYM, ILDR1, OTOF, DSPP, PJVK, OSBPL2, MARVELD2, POLR1C, PNPT1, NLRP3, OTOG, DIAPH1, DCDC2, PAX3, EDNRB, KCNQ4, ESPN, P2RX2, SIX5, SNAI2, SLC17A8, SERPINB6, SOX10, STRC, TCOF1, MT-TS1, TECTA, TMPRSS3, RIPOR2, LARS2, MCM2, PRPS1, KCNE1, KCNQ1, PTPRQ, RDX, SIX1, SLITRK6, SMPX, TNC, TMC1, ATP2B2, CD164, CDC14A, GSDME, ESRRB, FGF3, FOXI1, GJB3, GATA3, LRTOMT, LHFPL5, MIR96, MYH14, MYH9, OTOA, PEX6, POU4F3, ROR1, SLC26A5, S1PR2, TJP2, TMIE, TRIOBP, NARS2, TSPEAR, LOXHD1, GRXCR1, TPRN, POLR1D, DIAPH3, CEACAM16, OTOGL, EPS8L2, TMEM132E, ELMOD3, SYNE4, GRXCR2, MT-RNR1, GPSM2, CATSPER2, MITF, CRYL1, KITLG, LOXL3 Specificity 1 % Genes 50 %
Hearing Loss Panel. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. ABHD12, USH1G, USH1C, ANKH, BTD, EYA1, COL2A1, PDZD7, EYA4, HSD17B4, WFS1, FOXC1, PITX2, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN , (...) View the complete list with 102 more genes Panel GTR000528548 complete gene list ABHD12, USH1G, USH1C, ANKH, BTD, EYA1, COL2A1, PDZD7, EYA4, HSD17B4, WFS1, FOXC1, PITX2, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, CISD2, MYO7A, TIMM8A, ABHD5, ARSB, FGFR3, CHD7, GJB2, GJB6, POU3F4, CDKN1C, COL4A3, COL4A4, BSND, COL4A5, KCNJ10, SALL1, ACTG1, ATP6V1B1, CIB2, CACNA1D, COCH, CLDN14, CCDC50, COL9A1, DLX5, GIPC3, EDN3, HGF, MYO3A, MYO6, MYO15A, GRHL2, COL9A2, COL11A1, COL11A2, CRYM, ILDR1, OTOF, DSPP, PJVK, MARVELD2, NLRP3, DIAPH1, DNMT1, PAX3, EDNRB, KCNQ4, ESPN, SIX5, SNAI2, SLC17A8, SERPINB6, SOX10, STRC, SLC19A2, TCOF1, TECTA, TMPRSS3, PRPS1, KCNE1, KCNQ1, PTPRQ, RDX, SIX1, SMPX, TMC1, GSDME, ESRRB, FGF3, FOXI1, GJB3, GATA3, LRTOMT, LHFPL5, MIR96, MYH14, MYH9, OTOA, POU4F3, SEMA3E, SLC26A5, TJP2, TMIE, TRIOBP, LOXHD1, GRXCR1, TPRN, DIAPH3, CEACAM16, RPS6KA3, MT-RNR1, GPSM2, MITF, SALL4, SLC29A3, DTD1, MYO1A, MASP1 Specificity 1 % Genes 50 %
Ciliopathies. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. VHL, USH1G, USH1C, INVS, SPATA7, CC2D2A, TMEM67, KCNJ13, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4, PCDH15, TULP1 , (...) View the complete list with 73 more genes Panel GTR000552165 complete gene list VHL, USH1G, USH1C, INVS, SPATA7, CC2D2A, TMEM67, KCNJ13, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4, PCDH15, TULP1, RPGRIP1, RPGR, RPE65, IMPDH1, GUCY2D, CRX, CRB1, WHRN, CDH23, CCDC39, CCDC28B, XPNPEP3, LRAT, RDH12, RD3, TOPORS, IQCB1, LCA5, MYO7A, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, CFTR, TSC2, TSC1, PKHD1, TMEM216, PKD2, OFD1, WDR35, NODAL, DNAAF3, DNAL1, CCDC40, DNAAF1, RSPH9, RSPH4A, DNAAF2, DNAI2, DNAH11, NME8, DNAH5, DNAI1, NKX2-5, WDR19, WDPCP, SDCCAG8, B9D1, ZIC3, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, NEK8, KIF7, IFT43, GDF1, GATA4, CEP41, CPLANE1, IFT80, GLIS2, ARL13B, EVC, EVC2 Specificity 2 % Genes 50 %
CDH23 Sequencing. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. CDH23 Specificity 100 % Genes 50 %
OtoSeq Hearing Loss Panel by next-generation sequencing (NGS). By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. USH1G, USH1C, EYA1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, MYO7A, GJB2, GJB6, POU3F4, KCNJ10, MYO6, OTOF, SIX5, TMPRSS3, SIX1 , (...) View the complete list with 3 more genes Panel GTR000500213 complete gene list USH1G, USH1C, EYA1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, MYO7A, GJB2, GJB6, POU3F4, KCNJ10, MYO6, OTOF, SIX5, TMPRSS3, SIX1, TMC1, FOXI1, TMIE Specificity 5 % Genes 50 %
Usher Syndrome Panel by next-generation sequencing. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. USH1G, USH1C, ADGRV1, CLRN1, USH2A, PCDH15, WHRN, CDH23, MYO7A Specificity 12 % Genes 50 %
OtoSeq Hearing Loss Deletion/Duplication Panel. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. USH1G, USH1C, EYA1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, CDH23, MYO7A, GJB2, GJB6, POU3F4, KCNJ10, MYO6, OTOF, SIX5, TMPRSS3, SIX1, TMC1 , (...) View the complete list with 2 more genes Panel GTR000519426 complete gene list USH1G, USH1C, EYA1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, CDH23, MYO7A, GJB2, GJB6, POU3F4, KCNJ10, MYO6, OTOF, SIX5, TMPRSS3, SIX1, TMC1, FOXI1, TMIE Specificity 5 % Genes 50 %
Usher Syndrome Deletion/Duplication Panel. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. USH1G, USH1C, ADGRV1, CLRN1, USH2A, PCDH15, CDH23, MYO7A Specificity 13 % Genes 50 %
CDH23 Deletion/duplication analysis. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. CDH23 Specificity 100 % Genes 50 %
OtoGenome Test for Hearing Loss (110 Genes). By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States. USH1G, USH1C, BCS1L, EYA1, PDZD7, EYA4, HSD17B4, WFS1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, HARS, DIABLO, MSRB3, KARS, MYO7A , (...) View the complete list with 90 more genes Panel GTR000509148 complete gene list USH1G, USH1C, BCS1L, EYA1, PDZD7, EYA4, HSD17B4, WFS1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, HARS, DIABLO, MSRB3, KARS, MYO7A, TIMM8A, ALMS1, HARS2, CHD7, GJB2, GJB6, POU3F4, COL4A3, COL4A4, BSND, COL4A5, TBC1D24, ACTG1, ADCY1, ATP6V1B1, CIB2, CACNA1D, CABP2, COCH, CLDN14, CCDC50, CLIC5, GIPC3, EDN3, CLPP, HGF, EPS8, MYO3A, MYO6, MYO15A, GRHL2, COL11A2, ILDR1, OTOF, PJVK, OSBPL2, MARVELD2, NLRP3, OTOG, DIAPH1, PAX3, EDNRB, KCNQ4, ESPN, P2RX2, SNAI2, SERPINB6, SOX10, STRC, MT-TS1, TECTA, TMPRSS3, RIPOR2, LARS2, PRPS1, KCNE1, KCNQ1, RDX, SIX1, SLITRK6, SMPX, TMC1, CD164, CDC14A, GSDME, ESRRB, LRTOMT, LHFPL5, MIR96, MYH14, MYH9, OTOA, POU4F3, S1PR2, TMIE, TRIOBP, LOXHD1, GRXCR1, TPRN, CEACAM16, OTOGL, SYNE4, MT-RNR1, GPSM2, CATSPER2, MITF, KITLG, SLC52A2, SLC52A3, CEP78 Specificity 1 % Genes 50 %
Expanded Hearing Loss Panel, Sequencing (56 Genes) and Deletion/Duplication (53 Genes). By ARUP Laboratories, Molecular Genetics and Genomics in United States. USH1G, USH1C, EYA4, HSD17B4, WFS1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, MYO7A, HARS2, GJB2, GJB6, ACTG1, COCH, CLDN14, CCDC50 , (...) View the complete list with 36 more genes Panel GTR000515701 complete gene list USH1G, USH1C, EYA4, HSD17B4, WFS1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, MYO7A, HARS2, GJB2, GJB6, ACTG1, COCH, CLDN14, CCDC50, MYO3A, MYO6, MYO15A, GRHL2, COL11A2, CRYM, OTOF, DSPP, PJVK, MARVELD2, DIAPH1, DNMT1, KCNQ4, ESPN, STRC, TECTA, TMPRSS3, RDX, SMPX, TMC1, GSDME, ESRRB, GJB3, LHFPL5, MYH14, MYH9, OTOA, POU4F3, SLC26A5, TMIE, TRIOBP, TPRN, CEACAM16, GPSM2, MYO1A, MASP1 Specificity 2 % Genes 50 %
CDH23. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. CDH23 Specificity 100 % Genes 50 %
Audiome (hearing loss panel). By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. ABHD12, USH1G, USH1C, BCS1L, EYA1, COL2A1, PDZD7, EYA4, HSD17B4, WFS1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, HARS, MSRB3, SUCLA2 , (...) View the complete list with 86 more genes Panel GTR000553458 complete gene list ABHD12, USH1G, USH1C, BCS1L, EYA1, COL2A1, PDZD7, EYA4, HSD17B4, WFS1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, HARS, MSRB3, SUCLA2, CISD2, MYO7A, TIMM8A, ALMS1, HARS2, GJB2, GJB6, POU3F4, COL4A3, COL4A4, BSND, COL4A5, TBC1D24, ATP6V1B2, ATP6V1B1, CIB2, CABP2, CLDN14, CCDC50, COL9A1, COL9A3, CLIC5, GIPC3, EDN3, CLPP, HGF, EPS8, MYO3A, MYO6, MYO15A, GRHL2, COL9A2, COL11A1, COL11A2, ILDR1, OTOF, PJVK, OSBPL2, MARVELD2, OTOG, DIAPH1, PAX3, EDNRB, KCNQ4, ESPN, SNAI2, SLC17A8, SERPINB6, SOX10, STRC, SLC4A11, TECTA, TMPRSS3, LARS2, PRPS1, KCNE1, KCNQ1, PTPRQ, RDX, SIX1, SLITRK6, SMPX, TMC1, GSDME, ESRRB, FGF3, LRTOMT, LHFPL5, MYH9, OTOA, POU4F3, S1PR2, TMIE, TRIOBP, TSPEAR, LOXHD1, GRXCR1, TPRN, CEACAM16, OTOGL, SYNE4, GRXCR2, GPSM2, MITF, SLC52A2, SLC52A3 Specificity 1 % Genes 50 %
Usher syndrome type 1D/F (sequence analysis of CDH23 gene). By CGC Genetics in Portugal. CDH23 Specificity 100 % Genes 50 %
Syndromic deafness (NGS panel for 62 genes). By CGC Genetics in Portugal. ABHD12, USH1G, USH1C, ANKH, EYA1, COL2A1, TYR, PDZD7, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, MYO7A, TIMM8A, MANBA , (...) View the complete list with 42 more genes Panel GTR000523375 complete gene list ABHD12, USH1G, USH1C, ANKH, EYA1, COL2A1, TYR, PDZD7, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, MYO7A, TIMM8A, MANBA, ALMS1, CHD7, CDKN1C, COL4A3, COL4A4, BSND, COL4A5, KCNJ10, ATP6V1B1, CIB2, CD151, CACNA1D, COL9A1, COL9A3, DLX5, EDN3, HOXB1, COL4A6, COL9A2, COL11A1, COL11A2, POLR1C, NLRP3, PAX3, EDNRB, SIX5, SNAI2, SOX10, SLC19A2, TCOF1, KCNE1, KCNQ1, SIX1, SLITRK6, CHSY1, FGF3, FOXI1, GATA3, SEMA3E, TFAP2A, POLR1D, MITF Specificity 2 % Genes 50 %
Non syndromic deafness AR and XL (NGS panel for 56 genes). By CGC Genetics in Portugal. USH1C, PCDH15, SLC26A4, WHRN, CDH23, MSRB3, KARS, MYO7A, GJB2, GJB6, POU3F4, SLC12A1, KCNJ10, CIB2, CABP2, CLDN14, CLIC5, GIPC3, HGF, MYO3A , (...) View the complete list with 36 more genes Panel GTR000523517 complete gene list USH1C, PCDH15, SLC26A4, WHRN, CDH23, MSRB3, KARS, MYO7A, GJB2, GJB6, POU3F4, SLC12A1, KCNJ10, CIB2, CABP2, CLDN14, CLIC5, GIPC3, HGF, MYO3A, MYO6, MYO15A, COL4A6, COL11A2, ILDR1, OTOF, PJVK, MARVELD2, OTOG, ESPN, SERPINB6, STRC, TECTA, TMPRSS3, PRPS1, PTPRQ, RDX, SLITRK6, SMPX, TMC1, ESRRB, FOXI1, GJB3, LRTOMT, LHFPL5, OTOA, SLC26A5, TMIE, TRIOBP, TSPEAR, LOXHD1, GRXCR1, TPRN, OTOGL, GPSM2, TMC2 Specificity 2 % Genes 50 %
Syndromic and non syndromic deafness (NGS panel for 127 genes). By CGC Genetics in Portugal. ABHD12, USH1G, USH1C, ANKH, EYA1, COL2A1, TYR, PDZD7, EYA4, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3 , (...) View the complete list with 107 more genes Panel GTR000523804 complete gene list ABHD12, USH1G, USH1C, ANKH, EYA1, COL2A1, TYR, PDZD7, EYA4, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, KARS, MYO7A, TIMM8A, MANBA, ALMS1, CHD7, GJB2, GJB6, POU3F4, CDKN1C, COL4A3, COL4A4, BSND, SLC12A1, COL4A5, KCNJ10, ACTG1, ATP6V1B1, CIB2, CD151, CACNA1D, CABP2, COCH, CLDN14, CCDC50, COL9A1, COL9A3, CLIC5, DLX5, GIPC3, EDN3, HGF, MYO3A, MYO6, MYO15A, GRHL2, HOXB1, COL4A6, COL9A2, COL11A1, COL11A2, CRYM, ILDR1, OTOF, DSPP, PJVK, MARVELD2, POLR1C, NLRP3, OTOG, DIAPH1, PAX3, EDNRB, KCNQ4, ESPN, SIX5, SNAI2, SLC17A8, SERPINB6, SOX10, STRC, SLC19A2, TCOF1, TECTA, TMPRSS3, PRPS1, KCNE1, KCNQ1, PTPRQ, RDX, SIX1, SLITRK6, SMPX, TNC, TMC1, CHSY1, GSDME, ESRRB, FGF3, FOXI1, GJB3, GATA3, LRTOMT, LHFPL5, MIR96, MYH14, MYH9, OTOA, POU4F3, SEMA3E, SLC26A5, TJP2, TFAP2A, TMIE, TRIOBP, TSPEAR, LOXHD1, GRXCR1, TPRN, POLR1D, DIAPH3, CEACAM16, OTOGL, GPSM2, MITF, MYO1A, TMC2 Specificity 1 % Genes 50 %
Non syndromic deafness AD, AR and XL (NGS panel for 79 genes). By CGC Genetics in Portugal. USH1C, EYA4, WFS1, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, KARS, MYO7A, GJB2, GJB6, POU3F4, SLC12A1, KCNJ10, ACTG1, CIB2, CABP2, COCH , (...) View the complete list with 59 more genes Panel GTR000523911 complete gene list USH1C, EYA4, WFS1, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, KARS, MYO7A, GJB2, GJB6, POU3F4, SLC12A1, KCNJ10, ACTG1, CIB2, CABP2, COCH, CLDN14, CCDC50, CLIC5, GIPC3, HGF, MYO3A, MYO6, MYO15A, GRHL2, COL4A6, COL11A2, CRYM, ILDR1, OTOF, DSPP, PJVK, MARVELD2, OTOG, DIAPH1, KCNQ4, ESPN, SLC17A8, SERPINB6, STRC, TECTA, TMPRSS3, PRPS1, PTPRQ, RDX, SIX1, SLITRK6, SMPX, TNC, TMC1, GSDME, ESRRB, FOXI1, GJB3, LRTOMT, LHFPL5, MIR96, MYH14, MYH9, OTOA, POU4F3, SLC26A5, TJP2, TMIE, TRIOBP, TSPEAR, LOXHD1, GRXCR1, TPRN, DIAPH3, CEACAM16, OTOGL, GPSM2, MYO1A, TMC2 Specificity 2 % Genes 50 %
Usher syndrome (NGS panel for 12 genes). By CGC Genetics in Portugal. USH1G, USH1C, PDZD7, ADGRV1, CLRN1, USH2A, PCDH15, WHRN, CDH23, HARS, MYO7A, CIB2 Specificity 9 % Genes 50 %
Usher Syndrome Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. USH1G, USH1C, PDZD7, ADGRV1, CLRN1, USH2A, PCDH15, WHRN, CDH23, MYO7A, CIB2 Specificity 10 % Genes 50 %
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, C12orf65, INVS, NEUROD1, SPATA7, MMACHC, FBLN5, LRP5, COL2A1, PRKCG, CHM, PDZD7, RP1, INPP5E, AMACR , (...) View the complete list with 285 more genes Panel GTR000552334 complete gene list ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, C12orf65, INVS, NEUROD1, SPATA7, MMACHC, FBLN5, LRP5, COL2A1, PRKCG, CHM, PDZD7, RP1, INPP5E, AMACR, OPA1, WFS1, CC2D2A, ELOVL4, ABCA4, JAG1, CACNA1F, MFRP, NDP, OTX2, CNGB3, TMEM67, KCNJ13, ARL6, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4, PCDH15, PRPH2, MFN2, PANK2, OPA3, TULP1, SAG, RPGRIP1, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, GUCY2D, CRX, CRB1, WHRN, CDH23, ACO2, IDH3B, HARS, C8orf37, PRPF6, MERTK, DHDDS, SLC24A1, GUCA1B, PDE6A, RGR, CNGB1, RS1, GNAT2, FAM161A, CNGA1, NRL, CDHR1, RP1L1, PDE6G, IMPG2, PCARE, GRK1, LRAT, TSPAN12, TRPM1, PDE6C, TMEM126A, KLHL7, ADAM9, RDH12, RD3, PRCD, CACNA2D4, GNAT1, CABP4, SNRNP200, KCNV2, SEMA4A, CTSD, TOPORS, IQCB1, FLVCR1, RGS9, CERKL, FSCN2, GRN, C1QTNF5, CISD2, LCA5, RIMS1, EYS, GUCA1A, MYO7A, PITPNM3, CA4, PRPF31, PRPF8, RP2, FRMD7, NYX, TIMM8A, ABCD1, PHYH, OAT, GRM6, HGSNAT, HK1, CNGA3, CYP4V2, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, TPP1, CLN3, ALMS1, RP9, TIMP3, RDH5, FZD4, EFEMP1, PAX2, TEAD1, MAK, NR2E3, PRPF3, RBP3, ROM1, NMNAT1, GJB2, GJB6, CLN6, CLN8, MTTP, PEX2, PPT1, PEX7, PEX1, TTPA, CLN5, TMEM216, AHI1, PNPLA6, ISPD, LARGE1, HCN1, DNAJC5, MFSD8, NR2F1, OFD1, TREX1, VPS13B, CIB2, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, PRPS1, PEX6, TMEM231, CTNNB1, KIAA0586, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5, WDR35, MVK, ABCC6, GNPTG, UNC119, CFAP410, ATF6, POC1B, TTLL5, RAB28, RAX2, PDE6H, CNNM4, LRIT3, GPR179, DTHD1, GDF6, IFT140, CTNNA1, DRAM2, IMPG1, CDH3, HMCN1, DHX38, SPP2, ARL3, RBP4, AGBL5, EMC1, ZNF408, WDR19, PRPF4, KIZ, SLC7A14, NEK2, ARL2BP, ADIPOR1, LZTFL1, IFT27, BBIP1, WDPCP, SDCCAG8, KIF11, PGK1, CFH, B9D1, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, KIF7, IFT43, CEP41, CPLANE1, IFT80, ARL13B, B9D2, VSX2, SLC25A46, TCTN3, IFT172, TMEM107, PDE6D, CSPP1, CEP164, ZNF423, CEP83, LRP2, PLK4, TUBGCP4, TUBGCP6, COL18A1, LAMA1, RTN4IP1, ITM2B, TRNT1, ADGRA3, RCBTB1, KIAA1549, CEP78, PEX11B, VCAN, PLA2G5, RGS9BP, PCYT1A, TUB, RDH11, ADAMTS18, HMX1, CAPN5, IFT88, PRDM13, IFT81, MIR204, NXNL1, REEP6, SLC4A7, CEP250, CFAP57, OR2W3, ACBD5 Specificity 1 % Genes 50 %
Usher Syndrome Type 1 and Deafness, Autosomal Recessive 12 (DFNB12) via CDH23 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. CDH23 Specificity 100 % Genes 50 %
Usher 1 Panel. By FirmaLab in United States. USH1C, PCDH15, CDH23, MYO7A Specificity 25 % Genes 50 %
DFNB12 Nonsyndromic Hearing Loss and Deafness. By Bioscientia GmbH Center for Human Genetics in Germany. CDH23, ATP2B2 Specificity 50 % Genes 50 %
Usher Syndrome Type 1D. By Bioscientia GmbH Center for Human Genetics in Germany. CDH23 Specificity 100 % Genes 50 %
Usher syndrome type 1D/F. By Centogene AG - the Rare Disease Company in Germany. CDH23 Specificity 100 % Genes 50 %
Deafness, non-syndromic sensorineural AR panel. By Centogene AG - the Rare Disease Company in Germany. USH1C, PCDH15, SLC26A4, WHRN, CDH23, MSRB3, MYO7A, GJB2, GJB6, POU3F4, SLC12A1, CLDN14, GIPC3, HGF, MYO3A, MYO6, MYO15A, COL11A2, ILDR1, OTOF , (...) View the complete list with 23 more genes Panel GTR000503261 complete gene list USH1C, PCDH15, SLC26A4, WHRN, CDH23, MSRB3, MYO7A, GJB2, GJB6, POU3F4, SLC12A1, CLDN14, GIPC3, HGF, MYO3A, MYO6, MYO15A, COL11A2, ILDR1, OTOF, PJVK, MARVELD2, ESPN, STRC, TECTA, TMPRSS3, PRPS1, PTPRQ, RDX, SMPX, TMC1, ESRRB, GJB3, LRTOMT, LHFPL5, OTOA, SLC26A5, TMIE, TRIOBP, LOXHD1, GRXCR1, TPRN, GPSM2 Specificity 3 % Genes 50 %
Hearing Loss, nonsyndromic, autosomal recessive and X-linked Panel. By CeGaT GmbH in Germany. USH1C, PCDH15, SLC26A4, WHRN, CDH23, MSRB3, KARS, MYO7A, GJB2, GJB6, POU3F4, CIB2, CABP2, CLDN14, CLIC5, GIPC3, HGF, MYO3A, MYO6, MYO15A , (...) View the complete list with 33 more genes Panel GTR000522361 complete gene list USH1C, PCDH15, SLC26A4, WHRN, CDH23, MSRB3, KARS, MYO7A, GJB2, GJB6, POU3F4, CIB2, CABP2, CLDN14, CLIC5, GIPC3, HGF, MYO3A, MYO6, MYO15A, COL4A6, COL11A2, ILDR1, OTOF, PJVK, MARVELD2, OTOG, ESPN, SERPINB6, STRC, TECTA, TMPRSS3, PRPS1, PTPRQ, RDX, SLITRK6, SMPX, TMC1, ESRRB, GJB3, LRTOMT, LHFPL5, OTOA, SLC26A5, TMIE, TRIOBP, TSPEAR, LOXHD1, GRXCR1, TPRN, OTOGL, GPSM2, TMC2 Specificity 2 % Genes 50 %
Syndromic Hearing Loss Panel. By CeGaT GmbH in Germany. ABHD12, USH1G, USH1C, ANKH, EYA1, COL2A1, TYR, PDZD7, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, MYO7A, TIMM8A, MANBA , (...) View the complete list with 42 more genes Panel GTR000522364 complete gene list ABHD12, USH1G, USH1C, ANKH, EYA1, COL2A1, TYR, PDZD7, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, MYO7A, TIMM8A, MANBA, ALMS1, CHD7, CDKN1C, COL4A3, COL4A4, BSND, COL4A5, KCNJ10, ATP6V1B1, CIB2, CD151, CACNA1D, COL9A1, COL9A3, DLX5, EDN3, HOXB1, COL4A6, COL9A2, COL11A1, COL11A2, POLR1C, NLRP3, PAX3, EDNRB, SIX5, SNAI2, SOX10, SLC19A2, TCOF1, KCNE1, KCNQ1, SIX1, SLITRK6, CHSY1, FGF3, FOXI1, GATA3, SEMA3E, TFAP2A, POLR1D, MITF Specificity 2 % Genes 50 %
Usher Syndrome Panel. By CeGaT GmbH in Germany. ABHD12, USH1G, USH1C, PDZD7, ADGRV1, CLRN1, USH2A, PCDH15, WHRN, CDH23, HARS, MYO7A, PEX1, CIB2, PEX6 Specificity 7 % Genes 50 %
Usher Syndrome. By Asper Biogene Asper Biogene LLC in Estonia. ABHD12, USH1G, USH1C, PDZD7, ADGRV1, CLRN1, USH2A, PCDH15, WHRN, CDH23, HARS, KARS, MYO7A, CIB2, GIPC3, COL4A6, DSPP, TNC, LHFPL5, LOXHD1 Specificity 5 % Genes 50 %
Sensorineural Hearing Loss. By Asper Biogene Asper Biogene LLC in Estonia. USH1G, USH1C, PDZD7, EYA4, TRMU, WFS1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, MYO7A, GJB2, GJB6, POU3F4, BSND , (...) View the complete list with 57 more genes Panel GTR000512701 complete gene list USH1G, USH1C, PDZD7, EYA4, TRMU, WFS1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, MYO7A, GJB2, GJB6, POU3F4, BSND, KCNJ10, ACTG1, ATP6V1B1, CIB2, COCH, CLDN14, CCDC50, GIPC3, HGF, MYO3A, MYO6, MYO15A, GRHL2, COL11A2, CRYM, ILDR1, OTOF, PJVK, MARVELD2, DIAPH1, KCNQ4, ESPN, SLC17A8, SERPINB6, STRC, MT-TS1, TECTA, TMPRSS3, PRPS1, PTPRQ, RDX, SIX1, SMPX, TMC1, ATP2B2, GSDME, ESRRB, FOXI1, GJB3, LRTOMT, LHFPL5, MIR96, MYH14, MYH9, OTOA, POU4F3, SLC26A5, TJP2, TMIE, TRIOBP, LOXHD1, GRXCR1, TPRN, DIAPH3, CEACAM16, GPSM2, MYO1A Specificity 2 % Genes 50 %
Eye diseases comprehensive panel. By Asper Biogene Asper Biogene LLC in Estonia. ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, OPN1MW, SPATA7, TYRP1, LRP5, COL2A1, VSX1, SLC45A2, PAX6, ZEB1, CHM, TGFBI, PITX3, TYR , (...) View the complete list with 255 more genes Panel GTR000553865 complete gene list ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, OPN1MW, SPATA7, TYRP1, LRP5, COL2A1, VSX1, SLC45A2, PAX6, ZEB1, CHM, TGFBI, PITX3, TYR, PDZD7, RP1, GPR143, OPA1, ABCB6, WFS1, CC2D2A, ELOVL4, PITX2, ABCA4, JAG1, CACNA1F, MFRP, NDP, OTX2, CYP1B1, CNGB3, NHS, TMEM67, KCNJ13, ARL6, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4, PCDH15, PRPH2, MFN2, CRYAB, PANK2, OPA3, TULP1, SAG, RPGRIP1, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, GUCY2D, CRX, CRB1, WHRN, CDH23, IDH3B, HARS, C8orf37, AGK, PRPF6, MERTK, DHDDS, SLC24A1, GUCA1B, PDE6A, RGR, CNGB1, RS1, GNAT2, FYCO1, FAM161A, CNGA1, NRL, CDHR1, RP1L1, PDE6G, IMPG2, PCARE, GRK1, LRAT, TSPAN12, TRPM1, PDE6C, GFER, TMEM126A, KLHL7, ADAM9, RDH12, RD3, PRCD, CACNA2D4, GNAT1, CABP4, SNRNP200, SEMA4A, CTSD, TOPORS, IQCB1, FLVCR1, RGS9, CERKL, FSCN2, GRN, C1QTNF5, LCA5, RIMS1, EYS, GUCA1A, GJA3, MYO7A, STRA6, PITPNM3, CA4, PRPF31, PRPF8, RP2, NYX, HCCS, TIMM8A, BCOR, PHYH, OAT, GRM6, GALT, GALK1, CNGA3, SIX6, CYP4V2, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, SOX2, TPP1, CLN3, ALMS1, RP9, MYOC, TIMP3, RDH5, FZD4, EFEMP1, KRT12, KRT3, PAX2, TEAD1, GSN, MAK, NR2E3, PRPF3, RBP3, ROM1, NMNAT1, CLN6, CLN8, MTTP, PPT1, PEX7, CLN5, TMEM216, AHI1, COL4A1, MFSD8, OFD1, TREX1, VPS13B, CIB2, COL9A1, GIPC3, COL9A2, COL11A1, COL11A2, SLC4A11, MVK, NAA10, PRDM5, ABCC6, ZNF469, GNPTG, UNC119, RAB28, RAX2, PDE6H, CNNM4, GPR179, GDF6, IFT140, CDH3, CHST6, RBP4, WDR19, LZTFL1, WDPCP, SDCCAG8, C19orf12, KIF11, CTDP1, CFH, GJA1, FTL, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, KIF7, CEP41, ARL13B, VAX1, FREM1, VSX2, CRYBA4, BMP4, GDF3, PRSS56, B3GLCT, GRIP1, FREM2, FRAS1, LAMA1, ITM2B, COL8A2, DCN, PIKFYVE, UBIAD1, TACSTD2, CRYBB1, CRYBB3, TDRD7, LIM2, CRYAA, VCAN, PLA2G5, RGS9BP, CRYGD, CHMP4B, BFSP2, CRYBA1, MIP, CRYBB2, CRYGC, CRYGB, EPHA2, VIM, HSF4, CRYGS, SMOC1, ADAMTS18, HMX1, JAM3, YAP1, ZNF644 Specificity 1 % Genes 50 %
Retinal Dystrophy Panel. By Molecular Vision Laboratory in United States. ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, C12orf65, INVS, OPN1MW, OPN1LW, NEUROD1, SPATA7, MMACHC, LRP5, CHM, PDZD7, RP1, INPP5E, AMACR, OPA1 , (...) View the complete list with 267 more genes Panel GTR000522537 complete gene list ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, C12orf65, INVS, OPN1MW, OPN1LW, NEUROD1, SPATA7, MMACHC, LRP5, CHM, PDZD7, RP1, INPP5E, AMACR, OPA1, WFS1, CC2D2A, ELOVL4, ABCA4, JAG1, CACNA1F, MFRP, NDP, OTX2, CNGB3, TMEM67, KCNJ13, ARL6, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4, PCDH15, PRPH2, MFN2, PANK2, OPA3, TULP1, SAG, RPGRIP1, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, GUCY2D, CRX, CRB1, WHRN, CDH23, ACO2, IDH3B, HARS, C8orf37, PRPF6, MERTK, DHDDS, SLC24A1, GUCA1B, PDE6A, RGR, CNGB1, RS1, GNAT2, FAM161A, CNGA1, NRL, CDHR1, RP1L1, PDE6G, IMPG2, PCARE, GRK1, LRAT, TSPAN12, TRPM1, PDE6C, TMEM126A, KLHL7, ADAM9, RDH12, RD3, PRCD, CACNA2D4, GNAT1, CABP4, SNRNP200, KCNV2, SEMA4A, CTSD, TOPORS, IQCB1, FLVCR1, RGS9, CERKL, FSCN2, GRN, C1QTNF5, CISD2, LCA5, RIMS1, EYS, GUCA1A, MYO7A, PITPNM3, CA4, PRPF31, PRPF8, RP2, NYX, TIMM8A, ABCD1, PHYH, OAT, GRM6, HGSNAT, HK1, CNGA3, CYP4V2, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, TPP1, CLN3, ALMS1, RP9, TIMP3, RDH5, FZD4, EFEMP1, PAX2, TEAD1, MAK, NR2E3, PRPF3, RBP3, ROM1, NMNAT1, GJB2, GJB6, CLN6, CLN8, MTTP, PEX2, PPT1, PEX7, PEX1, TTPA, CLN5, TMEM216, MT-TL1, AHI1, MT-ND1, MT-ND6, MT-ND4, PNPLA6, KCTD7, HCN1, CTSF, DNAJC5, MFSD8, NR2F1, OFD1, TREX1, VPS13B, CIB2, PRPS1, PEX6, TMEM231, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5, MVK, ABCC6, UNC119, CFAP410, ATF6, POC1B, TTLL5, RAB28, RAX2, PDE6H, CNNM4, LRIT3, GPR179, DTHD1, GDF6, IFT140, CTNNA1, DRAM2, IMPG1, CDH3, HMCN1, DHX38, SPP2, ARL3, RBP4, EMC1, ZNF408, WDR19, PRPF4, KIZ, SLC7A14, NEK2, ARL2BP, LZTFL1, IFT27, BBIP1, WDPCP, SDCCAG8, KIF11, PGK1, MT-ND5, CFH, B9D1, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, KIF7, CEP41, CPLANE1, ARL13B, MT-ND4L, MT-TH, MT-TV, B9D2, SLC25A46, TCTN3, IFT172, PDE6D, CSPP1, CEP164, ZNF423, PLK4, TUBGCP4, TUBGCP6, LAMA1, RTN4IP1, ITM2B, TRNT1, ADGRA3, KIAA1549, PEX11B, VCAN, PLA2G5, RGS9BP, TUB, RDH11, ADAMTS18, HMX1, IFT81, MIR204, SLC4A7, CEP250, OR2W3, ACBD5, RHEX, DGKQ, CKAP4 Specificity 1 % Genes 50 %
USHER syndrome panel. By Molecular Vision Laboratory in United States. ABHD12, USH1G, USH1C, ADGRV1, CLRN1, USH2A, PCDH15, WHRN, CDH23, HARS, PCARE, MYO7A, CIB2, CEP250 Specificity 8 % Genes 50 %
CDH23 single gene sequencing. By Molecular Vision Laboratory in United States. CDH23 Specificity 100 % Genes 50 %
MVL Vision Panel. By Molecular Vision Laboratory in United States. ZNF513, USH1G, USH1C, BEST1, C12orf65, INVS, OPN1MW, OPN1LW, NEUROD1, SPATA7, MMACHC, LRP5, CHM, PDZD7, RP1, INPP5E, OPA1, WFS1, CC2D2A, ELOVL4 , (...) View the complete list with 248 more genes Panel GTR000559625 complete gene list ZNF513, USH1G, USH1C, BEST1, C12orf65, INVS, OPN1MW, OPN1LW, NEUROD1, SPATA7, MMACHC, LRP5, CHM, PDZD7, RP1, INPP5E, OPA1, WFS1, CC2D2A, ELOVL4, JAG1, CACNA1F, MFRP, NDP, OTX2, CNGB3, TMEM67, KCNJ13, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4, PCDH15, PRPH2, MFN2, PANK2, OPA3, TULP1, SAG, RPGRIP1, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, GUCY2D, CRX, CRB1, WHRN, CDH23, IDH3B, HARS, C8orf37, PRPF6, MERTK, DHDDS, SLC24A1, GUCA1B, PDE6A, RGR, CNGB1, RS1, GNAT2, FAM161A, CNGA1, NRL, CDHR1, RP1L1, PDE6G, IMPG2, PCARE, GRK1, LRAT, TSPAN12, TRPM1, PDE6C, TMEM126A, KLHL7, RDH12, RD3, PRCD, CACNA2D4, GNAT1, CABP4, SNRNP200, KCNV2, SEMA4A, CTSD, TOPORS, IQCB1, FLVCR1, RGS9, CERKL, FSCN2, GRN, C1QTNF5, CISD2, LCA5, RIMS1, EYS, GUCA1A, MYO7A, PITPNM3, CA4, PRPF31, PRPF8, RP2, NYX, TIMM8A, PHYH, OAT, GRM6, HGSNAT, HK1, CNGA3, CYP4V2, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, TPP1, CLN3, RP9, TIMP3, RDH5, FZD4, EFEMP1, PAX2, TEAD1, MAK, NR2E3, PRPF3, RBP3, ROM1, NMNAT1, GJB2, GJB6, CLN6, CLN8, MTTP, PEX2, PPT1, PEX7, PEX1, TTPA, CLN5, TMEM216, MT-TL1, MT-ND1, MT-ND6, MT-ND4, PNPLA6, KCTD7, HCN1, CTSF, DNAJC5, MFSD8, NR2F1, OFD1, TREX1, VPS13B, CIB2, PRPS1, PEX6, TMEM231, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5, MVK, UNC119, CFAP410, POC1B, TTLL5, RAB28, RAX2, PDE6H, CNNM4, LRIT3, GPR179, DTHD1, GDF6, IFT140, CTNNA1, DRAM2, IMPG1, CDH3, HMCN1, DHX38, SPP2, RBP4, EMC1, ZNF408, WDR19, PRPF4, KIZ, SLC7A14, NEK2, LZTFL1, IFT27, BBIP1, WDPCP, SDCCAG8, KIF11, PGK1, MT-ND5, CFH, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, KIF7, CEP41, CPLANE1, MT-ND4L, MT-TH, MT-TV, SLC25A46, TCTN3, IFT172, PDE6D, CSPP1, CEP164, ZNF423, PLK4, TUBGCP4, TUBGCP6, LAMA1, RTN4IP1, ITM2B, TRNT1, ADGRA3, KIAA1549, PEX11B, VCAN, PLA2G5, RGS9BP, TUB, RDH11, HMX1, IFT81, MIR204, SLC4A7, CEP250, OR2W3, RHEX, DGKQ, CKAP4 Specificity 1 % Genes 50 %
Usher syndrome. By VECMD VECMD in Mexico. USH1G, USH1C, USH2A, CDH23, MYO7A Specificity 20 % Genes 50 %
qCarrier Plus. By Quantitative Genomic Medicine Laboratories, SL in Spain. F2, F5, FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, AIPL1, ALDOB, USH1G, PC, USH1C, ARG1, HLCS, BTD , (...) View the complete list with 280 more genes Panel GTR000552567 complete gene list F2, F5, FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, AIPL1, ALDOB, USH1G, PC, USH1C, ARG1, HLCS, BTD, ATP7B, BCKDHA, BCKDHB, GAA, HBB, RAX, TYRP1, SLC45A2, TYR, GPR143, MTRR, CPS1, CPT2, GNPTAB, GLB1, OCRL, ABCA4, NDP, CNGB3, TMEM67, NPHP1, CEP290, CLRN1, USH2A, PCDH15, DLD, SLC25A13, PANK2, HADHA, FH, TULP1, RPGR, RPE65, GUCY2D, CRB1, MECP2, SLC26A4, WHRN, CDH23, IDH3B, ACSF3, PDHB, DHDDS, PDE6A, CNGB1, RS1, FAH, HMGCL, TAT, G6PC, CNGA1, RDH12, SUCLA2, P3H1, HAX1, TUFM, TSFM, CTSD, ACADSB, CERKL, SPG7, PCCB, GLDC, AMT, EYS, ETHE1, MYO7A, AGPS, RP2, OTC, ACSL4, ABCD1, MMADHC, LMBRD1, HEXA, HEXB, ACOX1, PTS, PAH, AGXT, SURF1, CPT1A, GALNS, GNS, HGSNAT, NAGLU, SGSH, MCEE, MMAB, MUT, DBT, MAN2B1, MLYCD, SUCLG1, GALC, IVD, ALDH4A1, GBE1, ETFB, ETFA, ETFDH, GCDH, GALT, GALE, GALK1, FXN, LRPPRC, SLC3A1, ASS1, CYP27A1, SLC22A5, SLC25A20, PMM2, MKS1, BBS10, BBS1, BBS2, ASL, TPP1, CLN3, CYP17A1, SLC6A8, NR2E3, ABCD4, ADA, AGA, AHCY, ARSB, GNMT, IL2RG, AIRE, AR, ARSA, ASPA, ARX, CFTR, FANCC, GBA, DHCR7, DMD, GJB2, GLA, IDS, IDUA, LDLR, LIPA, NPC1, NPC2, PLOD1, PLP1, POU3F4, RMRP, SMN1, ATM, NBN, CLN6, CLN8, HBA1, LAMB3, FKTN, G6PD, NEB, CTNS, PROP1, NPHS1, PPT1, PEX7, SGCA, SGCB, SERPINA1, SACS, SLC26A2, UGT1A1, TH, GRHPR, MCOLN1, MPL, PEX1, TTPA, CAPN3, CLN5, LAMC2, PKHD1, TMEM216, NDRG1, SH3TC2, MTMR2, GDAP1, ZFYVE26, SPG11, AHI1, CLCN1, FKRP, DYSF, KCNJ11, GNRHR, CYP21A2, COL4A4, BSND, L1CAM, SPART, TNNT1, POMT2, POMT1, DCX, PQBP1, MFSD8, ATRX, IQSEC2, FGD1, GRIA3, PAK3, KDM5C, SYN1, OPHN1, CASK, CUL4B, OTOF, POLR1C, STRC, SLC4A11, TMPRSS3, PRPS1, TMC1, GJB3, PEX6, TMIE, TRIOBP, TPRN, AP1S2, NLGN4X, PEX10, MVK, PHF8, HUWE1, AFF2, UPF3B, USP9X, GDI1, FTSJ1, RPS6KA3, BRWD3, SLC16A2, IL1RAPL1, THOC2, TRDN, CASQ2, CHST6, DNAH5, PGK1, F11, THRB, JAK3, F9, F8, FANCA, ARL13B, EVC2, SLC46A1, PCBD1, LDLRAP1, CD40LG, SLC39A4, COL7A1, TFR2, HOGA1, HJV, PAX8, DUOXA2, DUOX2, SLC5A5, TPO, SLC6A19, WNT10A, HGD, HAL, CTH, ADK, FTCD, MPP3 Specificity 1 % Genes 50 %
DEAFNESS A.D. and A.R.. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. USH1C, EYA4, WFS1, PCDH15, SLC26A4, WHRN, CDH23, MSRB3, MYO7A, GJB2, GJB6, BSND, ACTG1, CIB2, COCH, CLDN14, CCDC50, GIPC3, HGF, MYO3A , (...) View the complete list with 37 more genes Panel GTR000531429 complete gene list USH1C, EYA4, WFS1, PCDH15, SLC26A4, WHRN, CDH23, MSRB3, MYO7A, GJB2, GJB6, BSND, ACTG1, CIB2, COCH, CLDN14, CCDC50, GIPC3, HGF, MYO3A, MYO6, MYO15A, GRHL2, COL11A2, CRYM, ILDR1, OTOF, PJVK, MARVELD2, DIAPH1, KCNQ4, SLC17A8, SERPINB6, TECTA, TMPRSS3, PTPRQ, RDX, TMC1, GSDME, ESRRB, GJB3, LRTOMT, LHFPL5, MIR96, MYH14, MYH9, POU4F3, SLC26A5, TJP2, TMIE, TRIOBP, LOXHD1, GRXCR1, TPRN, CEACAM16, GPSM2, MYO1A Specificity 2 % Genes 50 %
DEAFNESS A.R. (39 genes). By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. USH1C, PCDH15, SLC26A4, WHRN, CDH23, MSRB3, MYO7A, GJB2, GJB6, BSND, CIB2, CLDN14, GIPC3, HGF, MYO3A, MYO6, MYO15A, COL11A2, ILDR1, OTOF , (...) View the complete list with 19 more genes Panel GTR000531475 complete gene list USH1C, PCDH15, SLC26A4, WHRN, CDH23, MSRB3, MYO7A, GJB2, GJB6, BSND, CIB2, CLDN14, GIPC3, HGF, MYO3A, MYO6, MYO15A, COL11A2, ILDR1, OTOF, PJVK, MARVELD2, SERPINB6, TECTA, TMPRSS3, PTPRQ, RDX, TMC1, ESRRB, GJB3, LRTOMT, LHFPL5, SLC26A5, TMIE, TRIOBP, LOXHD1, GRXCR1, TPRN, GPSM2 Specificity 3 % Genes 50 %
USHER SYNDROME and NON-SYNDROMIC DEAFNESS. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. USH1G, USH1C, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, MYO7A, GJB6, MYO6, OTOF, MT-TS1, TMPRSS3, TMC1, TMIE, MT-RNR1 Specificity 6 % Genes 50 %
Eye Disorders: Comprehensive Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, SPATA7, TYRP1, LRP5, COL2A1, OCA2, SLC45A2, WT1, PAX6, CHM, PITX3, TYR, RP1, GPR143 , (...) View the complete list with 190 more genes Panel GTR000512373 complete gene list ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, SPATA7, TYRP1, LRP5, COL2A1, OCA2, SLC45A2, WT1, PAX6, CHM, PITX3, TYR, RP1, GPR143, OPA1, WFS1, CC2D2A, FOXC1, ELOVL4, PITX2, ABCA4, CACNA1F, MFRP, NDP, OTX2, CYP1B1, CNGB3, TMEM67, KCNJ13, ARL6, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4, PCDH15, PRPH2, MFN2, OPA3, TULP1, SAG, RPGRIP1, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, GUCY2D, CRX, CRB1, WHRN, CDH23, IDH3B, HARS, C8orf37, PRPF6, MERTK, DHDDS, SLC24A1, GUCA1B, PDE6A, RGR, CNGB1, RS1, GNAT2, FAM161A, CNGA1, NRL, CDHR1, PDE6G, IMPG2, PCARE, LRAT, TSPAN12, TRPM1, PDE6C, TMEM126A, KLHL7, ADAM9, RDH12, RD3, PRCD, CACNA2D4, GNAT1, CABP4, SNRNP200, KCNV2, SEMA4A, CTSD, TOPORS, IQCB1, FLVCR1, RGS9, CERKL, FSCN2, GRN, C1QTNF5, LCA5, RIMS1, EYS, GUCA1A, MYO7A, STRA6, PITPNM3, CA4, PRPF31, PRPF8, RP2, NYX, HCCS, TIMM8A, BCOR, PHYH, OAT, GRM6, CNGA3, CYP27A1, CYP4V2, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, SOX2, TPP1, CLN3, ALMS1, RP9, MYOC, TIMP3, RDH5, FZD4, EFEMP1, MAK, NR2E3, PRPF3, RBP3, ROM1, CLN6, CLN8, MTTP, PPT1, PEX7, CLN5, TMEM216, AHI1, KCTD7, COL4A1, MFSD8, ATP13A2, OFD1, CIB2, COL9A1, COL9A2, COL11A1, COL11A2, UNC119, RAX2, PDE6H, CNNM4, LRIT3, GPR179, SLC24A5, LRMDA, CDH3, FOXE3, RBP4, LZTFL1, WDPCP, SDCCAG8, TTC21B, TMEM237, TCTN2, TCTN1, RPGRIP1L, KIF7, CEP41, CPLANE1, ARL13B, VAX1, FREM1, VSX2, BMP4, B3GLCT, TCTN3, ZNF423, GRIP1, FREM2, FRAS1, VCAN, PLA2G5, RGS9BP, SMOC1 Specificity 1 % Genes 50 %
Usher Syndrome: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. ABHD12, USH1G, USH1C, PDZD7, ADGRV1, CLRN1, USH2A, PCDH15, WHRN, CDH23, HARS, MYO7A, CIB2 Specificity 8 % Genes 50 %
Ciliopathies: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. VHL, AIPL1, USH1G, USH1C, INVS, SPATA7, CC2D2A, TMEM67, KCNJ13, ARL6, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4 , (...) View the complete list with 92 more genes Panel GTR000512415 complete gene list VHL, AIPL1, USH1G, USH1C, INVS, SPATA7, CC2D2A, TMEM67, KCNJ13, ARL6, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4, PCDH15, TULP1, RPGRIP1, RPGR, RPE65, IMPDH1, GUCY2D, CRX, CRB1, WHRN, CDH23, CCDC39, CCDC28B, XPNPEP3, PCARE, LRAT, RDH12, RD3, TOPORS, IQCB1, LCA5, MYO7A, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, CFTR, TSC2, TSC1, PKHD1, TMEM216, AHI1, ATXN10, UMOD, SCNN1A, SCNN1G, SCNN1B, PKD2, OFD1, TMEM231, WDR35, NODAL, FOXH1, DNAAF3, DNAL1, CCDC40, DNAAF1, RSPH9, RSPH4A, DNAAF2, DNAI2, DNAH11, NME8, DNAH5, DNAI1, NKX2-5, WDR19, WDPCP, SDCCAG8, B9D1, ZIC3, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, NEK8, KIF7, IFT43, GDF1, CEP41, CPLANE1, IFT80, GLIS2, ARL13B, EVC, EVC2, LEFTY2, CRELD1, ACVR2B, B9D2, CEP164, ZNF423, DYNC2H1, NEK1, HYLS1 Specificity 1 % Genes 50 %
Hearing Loss: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. ABHD12, USH1G, USH1C, BTD, EYA1, COL2A1, EYA4, HSD17B4, OPA1, WFS1, FOXC1, PITX2, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO , (...) View the complete list with 111 more genes Panel GTR000512601 complete gene list ABHD12, USH1G, USH1C, BTD, EYA1, COL2A1, EYA4, HSD17B4, OPA1, WFS1, FOXC1, PITX2, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, KARS, CISD2, MYO7A, TIMM8A, AIFM1, ABHD5, ALMS1, HARS2, ARSB, FGFR3, CHD7, GJB2, GJB6, POU3F4, COL4A3, COL4A4, BSND, COL4A5, TBC1D24, KCNJ10, SALL1, ACTG1, ADCY1, ATP6V1B1, CIB2, CACNA1D, CABP2, COCH, CLDN14, CCDC50, COL9A1, CLIC5, GIPC3, EDN3, CLPP, HGF, EPS8, MYO3A, MYO6, MYO15A, GRHL2, HOMER2, COL4A6, COL11A2, CRYM, ILDR1, OTOF, DSPP, PJVK, OSBPL2, MARVELD2, POLR1C, OTOG, DIAPH1, DNMT1, DCDC2, PAX3, EDNRB, KCNQ4, P2RX2, SIX5, SLC17A8, SERPINB6, SOX10, TCOF1, TECTA, TMPRSS3, RIPOR2, LARS2, PRPS1, KCNE1, KCNQ1, RDX, SIX1, SLITRK6, SMPX, TMC1, GSDME, ESRRB, FGF3, FOXI1, GJB3, LRTOMT, LHFPL5, MYH14, MYH9, OTOA, SLC26A5, TJP2, TMIE, TRIOBP, TSPEAR, LOXHD1, GRXCR1, TPRN, POLR1D, CEACAM16, OTOGL, TMEM132E, ELMOD3, SYNE4, GRXCR2, RPS6KA3, MT-RNR1, GPSM2, MITF, SALL4, SLC29A3, MYO1A, MASP1 Specificity 1 % Genes 50 %
Ciliopathies: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. VHL, AIPL1, USH1G, USH1C, INVS, SPATA7, CC2D2A, TMEM67, KCNJ13, ARL6, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4 , (...) View the complete list with 76 more genes Panel GTR000558619 complete gene list VHL, AIPL1, USH1G, USH1C, INVS, SPATA7, CC2D2A, TMEM67, KCNJ13, ARL6, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4, PCDH15, TULP1, RPGRIP1, RPGR, RPE65, IMPDH1, GUCY2D, CRX, CRB1, WHRN, CDH23, CCDC39, CCDC28B, XPNPEP3, PCARE, LRAT, RDH12, RD3, TOPORS, IQCB1, LCA5, MYO7A, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, CFTR, TSC2, TSC1, PKHD1, TMEM216, AHI1, ATXN10, UMOD, PKD2, OFD1, WDR35, NODAL, FOXH1, DNAL1, CCDC40, DNAAF1, RSPH9, RSPH4A, DNAAF2, DNAI2, DNAH11, NME8, DNAH5, DNAI1, WDR19, WDPCP, SDCCAG8, B9D1, ZIC3, TTC21B, TCTN2, TCTN1, RPGRIP1L, NEK8, KIF7, IFT43, IFT80, GLIS2, ARL13B, EVC, EVC2, B9D2, DYNC2H1, NEK1, HYLS1 Specificity 2 % Genes 50 %
Eye Disorders: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, SPATA7, TYRP1, LRP5, COL2A1, OCA2, SLC45A2, WT1, PAX6, CHM, PITX3, TYR, PDZD7, RP1 , (...) View the complete list with 187 more genes Panel GTR000559618 complete gene list ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, SPATA7, TYRP1, LRP5, COL2A1, OCA2, SLC45A2, WT1, PAX6, CHM, PITX3, TYR, PDZD7, RP1, GPR143, OPA1, WFS1, CC2D2A, FOXC1, ELOVL4, PITX2, ABCA4, CACNA1F, MFRP, NDP, OTX2, CYP1B1, CNGB3, TMEM67, KCNJ13, ARL6, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4, PCDH15, PRPH2, MFN2, OPA3, TULP1, SAG, RPGRIP1, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, GUCY2D, CRX, CRB1, WHRN, CDH23, IDH3B, HARS, C8orf37, PRPF6, MERTK, DHDDS, SLC24A1, GUCA1B, PDE6A, RGR, CNGB1, RS1, GNAT2, FAM161A, CNGA1, NRL, CDHR1, PDE6G, IMPG2, PCARE, LRAT, TSPAN12, TRPM1, PDE6C, TMEM126A, KLHL7, ADAM9, RDH12, RD3, PRCD, CACNA2D4, GNAT1, CABP4, SNRNP200, KCNV2, SEMA4A, CTSD, TOPORS, IQCB1, FLVCR1, RGS9, CERKL, FSCN2, GRN, C1QTNF5, LCA5, RIMS1, EYS, GUCA1A, MYO7A, STRA6, PITPNM3, CA4, PRPF31, PRPF8, RP2, NYX, HCCS, TIMM8A, BCOR, PHYH, OAT, GRM6, CNGA3, CYP4V2, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, SOX2, TPP1, CLN3, ALMS1, RP9, MYOC, TIMP3, RDH5, FZD4, EFEMP1, MAK, NR2E3, PRPF3, RBP3, ROM1, CLN6, CLN8, MTTP, PPT1, PEX7, CLN5, TMEM216, AHI1, KCTD7, COL4A1, MFSD8, OFD1, CIB2, COL9A1, COL9A2, COL11A1, COL11A2, UNC119, RAX2, PDE6H, CNNM4, LRIT3, GPR179, CDH3, FOXE3, RBP4, LZTFL1, WDPCP, SDCCAG8, TTC21B, TMEM237, TCTN2, TCTN1, RPGRIP1L, KIF7, CEP41, CPLANE1, ARL13B, VAX1, FREM1, VSX2, BMP4, B3GLCT, TCTN3, ZNF423, GRIP1, FREM2, FRAS1, VCAN, PLA2G5, RGS9BP, SMOC1 Specificity 1 % Genes 50 %
Hearing Loss: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. ABHD12, USH1G, USH1C, BTD, EYA1, EYA4, HSD17B4, WFS1, FOXC1, PITX2, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, CISD2 , (...) View the complete list with 71 more genes Panel GTR000560677 complete gene list ABHD12, USH1G, USH1C, BTD, EYA1, EYA4, HSD17B4, WFS1, FOXC1, PITX2, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, CISD2, MYO7A, TIMM8A, ABHD5, HARS2, ARSB, FGFR3, CHD7, GJB2, GJB6, POU3F4, BSND, COL4A5, KCNJ10, SALL1, ACTG1, ATP6V1B1, CIB2, COCH, CLDN14, CCDC50, GIPC3, HGF, MYO3A, MYO6, MYO15A, GRHL2, COL11A2, CRYM, ILDR1, OTOF, DSPP, PJVK, MARVELD2, DIAPH1, DNMT1, KCNQ4, SLC17A8, SERPINB6, TECTA, TMPRSS3, PRPS1, KCNE1, KCNQ1, RDX, SIX1, SMPX, TMC1, GSDME, ESRRB, FGF3, FOXI1, GJB3, LRTOMT, LHFPL5, MYH14, MYH9, OTOA, SLC26A5, TJP2, TMIE, TRIOBP, LOXHD1, GRXCR1, TPRN, CEACAM16, RPS6KA3, GPSM2, SALL4, SLC29A3, MYO1A, MASP1 Specificity 2 % Genes 50 %
Ciliopathies NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. VHL, AIPL1, USH1G, USH1C, INVS, SPATA7, CC2D2A, TMEM67, KCNJ13, ARL6, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4 , (...) View the complete list with 75 more genes Panel GTR000505731 complete gene list VHL, AIPL1, USH1G, USH1C, INVS, SPATA7, CC2D2A, TMEM67, KCNJ13, ARL6, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4, PCDH15, TULP1, RPGRIP1, RPGR, RPE65, IMPDH1, GUCY2D, CRX, CRB1, WHRN, CDH23, CCDC39, CCDC28B, XPNPEP3, PCARE, LRAT, RDH12, RD3, TOPORS, IQCB1, LCA5, MYO7A, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, ALMS1, CFTR, PKHD1, TMEM216, AHI1, ATXN10, UMOD, PKD2, OFD1, WDR35, NODAL, DNAL1, CCDC40, DNAAF1, RSPH9, RSPH4A, DNAAF2, DNAI2, DNAH11, NME8, DNAH5, DNAI1, NKX2-5, WDR19, WDPCP, SDCCAG8, B9D1, ZIC3, TTC21B, TCTN2, TCTN1, RPGRIP1L, NEK8, KIF7, IFT43, IFT80, GLIS2, ARL13B, EVC, EVC2, B9D2, DYNC2H1, NEK1, HYLS1 Specificity 2 % Genes 50 %
Eye Disorders NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. ZNF513, AIPL1, USH1C, BEST1, INVS, SPATA7, COL2A1, PAX6, CHM, RB1, RP1, OPTN, OPA1, WFS1, CC2D2A, FOXC1, ELOVL4, PITX2, ABCA4, JAG1 , (...) View the complete list with 118 more genes Panel GTR000506412 complete gene list ZNF513, AIPL1, USH1C, BEST1, INVS, SPATA7, COL2A1, PAX6, CHM, RB1, RP1, OPTN, OPA1, WFS1, CC2D2A, FOXC1, ELOVL4, PITX2, ABCA4, JAG1, CACNA1F, MFRP, NDP, OTX2, CYP1B1, CNGB3, KCNJ13, NPHP3, NPHP1, MKKS, CEP290, TRIM32, NPHP4, PCDH15, PRPH2, PANK2, OPA3, TULP1, SAG, RPGRIP1, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, GUCY2D, CRX, CRB1, WHRN, CDH23, IDH3B, MERTK, GUCA1B, PDE6A, RGR, CNGB1, FAM161A, CNGA1, NRL, RP1L1, PDE6G, IMPG2, PCARE, LRAT, TRPM1, PDE6C, TMEM126A, KLHL7, ADAM9, RDH12, RD3, PRCD, CACNA2D4, GNAT1, CABP4, SNRNP200, KCNV2, SEMA4A, TOPORS, IQCB1, RGS9, CERKL, FSCN2, LCA5, RIMS1, EYS, GUCA1A, PITPNM3, CA4, PRPF31, PRPF8, RP2, TIMM8A, BCOR, PHYH, OAT, GRM6, CYP4V2, BBS7, BBS5, BBS12, BBS9, BBS10, BBS4, BBS1, BBS2, SOX2, CLN3, RP9, MYOC, TIMP3, EFEMP1, PAX2, NR2E3, PRPF3, RBP3, ROM1, MTTP, PEX2, PEX7, PEX1, TTPA, AHI1, TREX1, COL9A1, COL11A1, UNC119, RAX2, CNNM4, CDH3, HMCN1, RBP4, RPGRIP1L, VSX2, VCAN, RGS9BP Specificity 1 % Genes 50 %
Retinitis Pigmentosa NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. ZNF513, AIPL1, USH1C, BEST1, INVS, SPATA7, RP1, WFS1, ABCA4, CACNA1F, ARL6, NPHP3, NPHP1, MKKS, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4 , (...) View the complete list with 68 more genes Panel GTR000509465 complete gene list ZNF513, AIPL1, USH1C, BEST1, INVS, SPATA7, RP1, WFS1, ABCA4, CACNA1F, ARL6, NPHP3, NPHP1, MKKS, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4, PCDH15, PRPH2, TULP1, SAG, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, GUCY2D, CRX, CRB1, WHRN, CDH23, IDH3B, C8orf37, PRPF6, MERTK, DHDDS, GUCA1B, PDE6A, RGR, CNGB1, FAM161A, CNGA1, NRL, PDE6G, IMPG2, PCARE, LRAT, KLHL7, RDH12, PRCD, SNRNP200, SEMA4A, TOPORS, IQCB1, FLVCR1, CERKL, FSCN2, EYS, CA4, PRPF31, PRPF8, RP2, PHYH, BBS7, BBS5, BBS12, BBS9, BBS10, BBS4, BBS1, BBS2, RP9, MAK, NR2E3, PRPF3, RBP3, ROM1, PEX2, PEX7, PEX1, PEX26, GNPTG, RPGRIP1L Specificity 2 % Genes 50 %
Hearing Loss NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. USH1G, USH1C, BCS1L, EYA1, PDZD7, EYA4, TRMU, WFS1, JAG1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, MSRB3, MYO7A, TIMM8A, GJB2 , (...) View the complete list with 83 more genes Panel GTR000510709 complete gene list USH1G, USH1C, BCS1L, EYA1, PDZD7, EYA4, TRMU, WFS1, JAG1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, MSRB3, MYO7A, TIMM8A, GJB2, GJB6, POU3F4, PMP22, BSND, KCNJ10, ACTB, ACTG1, ATP6V1B1, COCH, CLDN14, CCDC50, COL9A3, GIPC3, EDN3, HGF, ERCC2, ERCC3, MYO3A, MYO6, MYO15A, GRHL2, COL11A2, CRYM, ILDR1, OTOF, DSPP, PJVK, MARVELD2, DIAPH1, PAX3, EDNRB, KCNQ4, ESPN, SNAI2, SLC17A8, SERPINB6, SOX10, SLC4A11, TECTA, TMPRSS3, PRPS1, KCNE1, KCNQ1, PTPRQ, RDX, SIX1, SMPX, TMC1, ATP2B2, GSDME, ESRRB, FGF3, FOXI1, GJB3, GATA3, LRTOMT, LHFPL5, MIR96, MYH14, MYH9, OTOA, POU4F3, SLC26A5, TJP2, TMIE, TRIOBP, LOXHD1, GRXCR1, TPRN, GPSM2, CATSPER2, MITF, LHX3, GJA1, MYO1A, SPINK5, MTAP, TCF21, GSTP1, TBL1X, TMPRSS5, MYO1C, MYO1F Specificity 1 % Genes 50 %
Usher Syndrome NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. ABHD12, USH1G, USH1C, PDZD7, ADGRV1, CLRN1, USH2A, PCDH15, WHRN, CDH23, MYO7A Specificity 10 % Genes 50 %
CDH23. By Fulgent Genetics Fulgent Genetics in United States. CDH23 Specificity 100 % Genes 50 %
Comprehensive Hearing Loss and Deafness Panel. By Blueprint Genetics in Finland. ABHD12, USH1G, USH1C, ANKH, BTD, BCS1L, TWNK, EYA1, COL2A1, TYR, PDZD7, EYA4, HSD17B4, TRMU, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15 , (...) View the complete list with 159 more genes Panel GTR000552698 complete gene list ABHD12, USH1G, USH1C, ANKH, BTD, BCS1L, TWNK, EYA1, COL2A1, TYR, PDZD7, EYA4, HSD17B4, TRMU, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, HARS, DIABLO, MSRB3, KARS, SUCLA2, MYO7A, TIMM8A, AIFM1, MANBA, MAN2B1, SUCLG1, ALMS1, HARS2, FGFR3, CHD7, GJB2, GJB6, POU3F4, CDKN1C, MET, SMAD4, COL4A3, PEX1, COL4A4, BSND, COL4A5, SLC33A1, TBC1D24, SPATA5, KCNJ10, SALL1, ACTG1, ADCY1, BDP1, ATP6V1B2, ATP6V1B1, CIB2, CD151, CACNA1D, CABP2, COCH, CLDN14, CCDC50, COL9A1, COL9A3, CLIC5, DLX5, GIPC3, EDN3, CLPP, HGF, EPS8, MYO3A, MYO6, MYO15A, GRHL2, HOXB1, HOMER2, COL4A6, COL9A2, COL11A1, COL11A2, CRYM, ILDR1, OTOF, DSPP, PJVK, OSBPL2, MARVELD2, POLR1C, PNPT1, NLRP3, OTOG, DIAPH1, DNMT1, DCDC2, PAX3, EDNRB, KCNQ4, ESPN, P2RX2, SIX5, SNAI2, SLC17A8, SERPINB6, SOX10, STRC, SLC19A2, TCOF1, TECTA, TMPRSS3, RIPOR2, LARS2, PRPS1, KCNE1, KCNQ1, RDX, SIX1, SLITRK6, SMPX, TNC, TMC1, CD164, CDC14A, CHSY1, GSDME, ESRRB, FGF3, FOXI1, GJB3, GATA3, LRTOMT, LHFPL5, MIR96, MYH14, MYH9, OTOA, PEX6, POU4F3, SEMA3E, SLC26A5, S1PR2, TJP2, TFAP2A, TMIE, TRIOBP, NARS2, TSPEAR, LOXHD1, GRXCR1, TPRN, POLR1D, DIAPH3, CEACAM16, OTOGL, EPS8L2, TMEM132E, ELMOD3, SYNE4, GRXCR2, PEX26, RPS6KA3, GPSM2, MITF, SALL4, GJA1, DCAF17, SLC29A3, MGP, LRP2, SLC52A2, SLC52A3, CEP78, RMND1, FDXR, WBP2 Specificity 1 % Genes 50 %
Non-Syndromic Hearing Loss Panel. By Blueprint Genetics in Finland. USH1C, EYA4, WFS1, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, KARS, MYO7A, GJB2, GJB6, POU3F4, MET, BSND, TBC1D24, ACTG1, ADCY1, BDP1 , (...) View the complete list with 75 more genes Panel GTR000552702 complete gene list USH1C, EYA4, WFS1, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, KARS, MYO7A, GJB2, GJB6, POU3F4, MET, BSND, TBC1D24, ACTG1, ADCY1, BDP1, CIB2, CABP2, COCH, CLDN14, CCDC50, CLIC5, GIPC3, HGF, EPS8, MYO3A, MYO6, MYO15A, GRHL2, HOMER2, COL4A6, COL11A2, CRYM, ILDR1, OTOF, DSPP, PJVK, OSBPL2, MARVELD2, PNPT1, OTOG, DIAPH1, DCDC2, KCNQ4, ESPN, P2RX2, SLC17A8, SERPINB6, STRC, TECTA, TMPRSS3, RIPOR2, PRPS1, RDX, SIX1, SLITRK6, SMPX, TNC, TMC1, CD164, CDC14A, GSDME, ESRRB, GJB3, LRTOMT, LHFPL5, MIR96, MYH14, MYH9, OTOA, POU4F3, SLC26A5, S1PR2, TJP2, TMIE, TRIOBP, NARS2, TSPEAR, LOXHD1, GRXCR1, TPRN, DIAPH3, CEACAM16, OTOGL, EPS8L2, TMEM132E, ELMOD3, SYNE4, GRXCR2, GPSM2, WBP2 Specificity 2 % Genes 50 %
Retinal Dystrophy Panel. By Blueprint Genetics in Finland. ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, SPATA7, MMACHC, LRP5, COL2A1, PRKCG, CHM, PDZD7, RP1, INPP5E, OPA1, WFS1, CC2D2A, ELOVL4 , (...) View the complete list with 240 more genes Panel GTR000552782 complete gene list ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, SPATA7, MMACHC, LRP5, COL2A1, PRKCG, CHM, PDZD7, RP1, INPP5E, OPA1, WFS1, CC2D2A, ELOVL4, ABCA4, JAG1, CACNA1F, MFRP, NDP, OTX2, CNGB3, TMEM67, KCNJ13, ARL6, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4, PCDH15, PRPH2, MFN2, PANK2, OPA3, TULP1, SAG, RPGRIP1, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, GUCY2D, CRX, CRB1, WHRN, CDH23, ACO2, IDH3B, HARS, C8orf37, PRPF6, MERTK, DHDDS, SLC24A1, PDE6A, RGR, CNGB1, RS1, GNAT2, FAM161A, CNGA1, NRL, CDHR1, RP1L1, PDE6G, IMPG2, PCARE, LRAT, TSPAN12, TRPM1, PDE6C, TMEM126A, KLHL7, ADAM9, RDH12, RD3, PRCD, CACNA2D4, GNAT1, CABP4, SNRNP200, KCNV2, SEMA4A, TOPORS, IQCB1, FLVCR1, RGS9, CERKL, C1QTNF5, CISD2, LCA5, RIMS1, EYS, GUCA1A, MYO7A, PITPNM3, CA4, PRPF31, PRPF8, RP2, FRMD7, NYX, TIMM8A, PHYH, OAT, GRM6, HGSNAT, HK1, CNGA3, CYP4V2, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, CLN3, ALMS1, TIMP3, RDH5, FZD4, EFEMP1, PAX2, TEAD1, MAK, NR2E3, PRPF3, RBP3, ROM1, NMNAT1, MTTP, PEX2, PEX7, PEX1, TTPA, TMEM216, AHI1, PNPLA6, MFSD8, NR2F1, OFD1, TREX1, VPS13B, CIB2, COL9A1, COL9A3, COL9A2, COL11A1, PRPS1, PEX6, TMEM231, CTNNB1, KIAA0586, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5, MVK, GNPTG, CFAP410, ATF6, POC1B, TTLL5, RAB28, RAX2, PDE6H, CNNM4, GNB3, LRIT3, GPR179, DTHD1, IFT140, CTNNA1, DRAM2, IMPG1, CDH3, DHX38, SPP2, RBP4, AGBL5, EMC1, ZNF408, WDR19, PRPF4, KIZ, SLC7A14, NEK2, ARL2BP, ADIPOR1, LZTFL1, BBIP1, WDPCP, SDCCAG8, KIF11, CTC1, B9D1, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, KIF7, CEP41, CPLANE1, ARL13B, B9D2, SLC25A46, TCTN3, IFT172, CEP104, TMEM107, PDE6D, CSPP1, CEP164, ZNF423, LRP2, COL18A1, RTN4IP1, CWC27, ARHGEF18, SAMD11, CEP78, PEX11B, VCAN, ATOH7, PLA2G5, RGS9BP, PCYT1A, TUB, RDH11, ADAMTS18, HMX1, CAPN5, PRDM13, IFT81, REEP6, ARMC9 Specificity 1 % Genes 50 %
Usher Syndrome Panel. By Blueprint Genetics in Finland. ABHD12, USH1G, USH1C, PDZD7, ADGRV1, CLRN1, USH2A, PCDH15, WHRN, CDH23, HARS, MYO7A, PEX1, CIB2, CEP78 Specificity 7 % Genes 50 %
Syndromic Hearing Loss Panel. By Blueprint Genetics in Finland. ABHD12, USH1G, USH1C, ANKH, BTD, BCS1L, TWNK, EYA1, COL2A1, TYR, PDZD7, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23 , (...) View the complete list with 66 more genes Panel GTR000552639 complete gene list ABHD12, USH1G, USH1C, ANKH, BTD, BCS1L, TWNK, EYA1, COL2A1, TYR, PDZD7, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, HARS, MYO7A, TIMM8A, MANBA, MAN2B1, ALMS1, HARS2, CHD7, CDKN1C, SMAD4, COL4A3, PEX1, COL4A4, BSND, COL4A5, KCNJ10, SALL1, ACTG1, ATP6V1B2, ATP6V1B1, CIB2, CD151, CACNA1D, COL9A1, COL9A3, DLX5, EDN3, CLPP, HOXB1, COL4A6, COL9A2, COL11A1, COL11A2, POLR1C, NLRP3, DNMT1, PAX3, EDNRB, SIX5, SNAI2, SOX10, SLC19A2, TCOF1, LARS2, KCNE1, KCNQ1, SIX1, SLITRK6, CHSY1, FGF3, FOXI1, GATA3, MYH9, PEX6, SEMA3E, TFAP2A, POLR1D, PEX26, MITF, GJA1, DCAF17, MGP, LRP2, SLC52A2, SLC52A3, FDXR Specificity 2 % Genes 50 %
Usher syndrome, type 1D. By Bioarray in Spain. CDH23 Specificity 100 % Genes 50 %
CarrierMap. By Recombine in United States. FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, PC, USH1C, ALPL, ARG1, HLCS, ATP7A, BTD, ATP7B, BCKDHA , (...) View the complete list with 281 more genes Panel GTR000528277 complete gene list FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, PC, USH1C, ALPL, ARG1, HLCS, ATP7A, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, TYRP1, STAR, SLC45A2, CHM, TYR, SLC37A4, ABCA12, HSD17B4, CPT2, TRMU, GNPTAB, GLB1, GNE, OCRL, ABCA4, CYP1B1, CEP290, CLRN1, TRIM32, USH2A, PCDH15, DLD, POLG, CYP11B1, SLC25A13, HADHA, OPA3, FH, RPE65, RLBP1, GUCY2D, SMPD1, CYP11B2, SLC26A4, CDH23, HPS1, PDHB, HPS4, HPS3, DHDDS, RS1, FAH, HMGCL, HSD3B2, FAM161A, TAT, G6PC, GAMT, RDH12, RARS2, HAX1, HADHB, CERKL, PCCB, PCCA, GLDC, AMT, LCA5, ALG6, TYMP, MPI, ETHE1, MYO7A, PUS1, OTC, PDHA1, ABCD1, HEXA, ALDH3A2, HEXB, CTSK, ACOX1, PTS, PAH, AGXT, TCIRG1, MPV17, CPT1A, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH, NDUFS6, MMAB, MMAA, MUT, DBT, MAN2B1, MLYCD, GALC, IVD, SLC25A15, CBS, CYBA, PFKM, PYGM, GBE1, ETFB, ETFA, ETFDH, GCDH, GALT, GALK1, LRPPRC, SLC3A1, ASS1, CYP27A1, SLC22A5, SLC25A20, PMM2, BBS12, MKS1, BBS10, BBS1, BBS2, ASL, TPP1, CYP17A1, NR2E3, ADA, AGA, ARSB, IL2RG, AIRE, AR, ARSA, ASPA, ELP1, CFTR, FANCC, GBA, BLM, DHCR7, DMD, GJB2, GLA, IDS, IDUA, LIPA, NPC1, NPC2, RMRP, SMN1, ATM, NBN, BRIP1, ADAMTS2, CHRNE, CLN6, CLN8, COL4A3, DOK7, HBA1, LAMB3, FKTN, MTTP, G6PD, HBA2, NEB, CTNS, CYBB, PEX2, NPHS2, PROP1, NPHS1, DCLRE1C, PPT1, PEX7, SGCA, SGCB, SERPINA1, SLC7A7, SACS, SLC26A2, SLC35A3, UGT1A1, TH, GRHPR, LAMA3, MLC1, MCOLN1, MPL, PEX1, POMGNT1, RTEL1, SGCG, SLC12A6, SLC17A5, SUMF1, TTPA, WAS, ABCC8, CAPN3, CLN5, EIF2B5, LAMC2, PHGDH, PKHD1, RAPSN, TGM1, TMEM216, GJB1, NTRK1, FKRP, DYSF, LHCGR, KCNJ11, CYP21A2, COL4A4, SLC12A3, BSND, COL4A5, MTM1, VRK1, EMD, SGCD, TSEN54, MFSD8, VPS13B, VPS13A, ATP6V1B1, MYO15A, SLC4A11, PRPS1, PEX6, LOXHD1, PEX10, CHRNG, RAB23, POR, EXOSC3, CTSC, LYST, DNAI2, DNAI1, ERCC6, TECPR2, MEFV, SRD5A2, F9, F8, FANCA, FANCG, EVC, EVC2, LPL, EIF2AK3, VSX2, RAG2, ERCC8, SLC39A4, COL7A1, CIITA, EDA, TTC37, TFR2, HOGA1, HJV, CYP19A1, AMH, AMHR2, ASNS, MED17, SEPSECS, WRN, XPA, LIFR, SLC7A9, XPC, GDF5, HGD, BCHE, SLC26A3, VPS53 Specificity 1 % Genes 50 %
Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel. By Otogenetics in United States. USH1G, USH1C, BCS1L, PDZD7, EYA4, WFS1, JAG1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, MSRB3, MYO7A, TIMM8A, SOX2, FGFR3 , (...) View the complete list with 109 more genes Panel GTR000552366 complete gene list USH1G, USH1C, BCS1L, PDZD7, EYA4, WFS1, JAG1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, MSRB3, MYO7A, TIMM8A, SOX2, FGFR3, GJB2, GJB6, POU3F4, PMP22, GJB1, MT-TL1, MT-TK, BSND, NR2F1, KCNJ10, ACTB, ACTG1, ATP6V1B2, ATP6V1B1, COCH, CLDN14, CCDC50, COL9A3, GIPC3, HGF, ERCC2, ERCC3, MYO3A, MYO6, MYO15A, GRHL2, COL9A2, COL11A2, CRYM, ILDR1, OTOF, DSPP, PJVK, MARVELD2, DIAPH1, PAX3, EDNRA, EDNRB, KCNQ4, ESPN, P2RX2, SIX5, SNAI2, SLC17A8, SERPINB6, STRC, SLC4A11, MT-TS1, MT-TS2, TECTA, TMPRSS3, CEMIP, PRPS1, KCNE1, KCNQ1, PTPRQ, RDX, SIX1, SMPX, TMC1, GSDME, ESRRB, FGF3, FOXI1, GJB3, GATA3, LRTOMT, LHFPL5, MYH14, MYH9, OTOA, POU4F3, SLC26A5, TJP2, TMIE, TRIOBP, LOXHD1, GRXCR1, TPRN, CEACAM16, MT-RNR1, GPSM2, CATSPER2, MITF, LHX3, GJA1, MYO1A, MT-TI, MT-TH, MT-TQ, MT-TD, MT-TM, MT-TL2, FAS, SPINK5, GJB4, MTAP, ECE1, HAL, TCF21, GSTP1, TBL1X, TMPRSS5, MYO1C, MYO1F, OTOR, MIR182, TFCP2, MIR183 Specificity 1 % Genes 50 %
DEAFNESS, NONSYNDROMIC SENSORINEURAL (AUTOSOMAL RECESSIVE). By Laboratorio de Genetica Clinica SL in Spain. USH1C, PCDH15, SLC26A4, CDH23, MYO7A, GJB2, GJB6, MYO15A, OTOF, PJVK, STRC, TMPRSS3, TMC1 Specificity 8 % Genes 50 %
USHER SYNDROME TYPE 1. By Laboratorio de Genetica Clinica SL in Spain. USH1G, USH1C, PCDH15, CDH23, MYO7A Specificity 20 % Genes 50 %
Usher Syndrome Type 1D , Sequencing CDH23 Gene. By Reference Laboratory Genetics in Spain. CDH23 Specificity 100 % Genes 50 %
Usher Syndrome and Nonsyndromic Deafness , Panel Massive Sequencing (NGS) 18 Genes. By Reference Laboratory Genetics in Spain. USH1G, USH1C, PDZD7, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, HARS, MYO7A, GJB6, MYO6, OTOF, TMPRSS3, TMC1, TMIE Specificity 6 % Genes 50 %
Autosomal Recessive Hereditary Hearing Loss/Deafness , Panel Massive Sequencing (NGS) 39 Genes. By Reference Laboratory Genetics in Spain. USH1C, PCDH15, SLC26A4, WHRN, CDH23, MSRB3, MYO7A, GJB2, GJB6, BSND, CIB2, CLDN14, GIPC3, HGF, MYO3A, MYO6, MYO15A, COL11A2, ILDR1, OTOF , (...) View the complete list with 19 more genes Panel GTR000559730 complete gene list USH1C, PCDH15, SLC26A4, WHRN, CDH23, MSRB3, MYO7A, GJB2, GJB6, BSND, CIB2, CLDN14, GIPC3, HGF, MYO3A, MYO6, MYO15A, COL11A2, ILDR1, OTOF, PJVK, MARVELD2, SERPINB6, TECTA, TMPRSS3, PTPRQ, RDX, TMC1, ESRRB, GJB3, LRTOMT, LHFPL5, SLC26A5, TMIE, TRIOBP, LOXHD1, GRXCR1, TPRN, GPSM2 Specificity 3 % Genes 50 %
planTrue Extended. By True Health Diagnostics in United States. FMR1, ACADM, AGL, ACADVL, ALDOB, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, GAA, HBB, GNPTAB, GLB1, NPHP1, CLRN1, PCDH15, DLD, SMPD1 , (...) View the complete list with 61 more genes Panel GTR000561192 complete gene list FMR1, ACADM, AGL, ACADVL, ALDOB, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, GAA, HBB, GNPTAB, GLB1, NPHP1, CLRN1, PCDH15, DLD, SMPD1, SLC26A4, CDH23, RS1, FAH, G6PC, MYO7A, ABCD1, HEXA, ALDH3A2, HEXB, CYP27B1, PAH, CBS, GCDH, GALT, LRPPRC, SLC22A5, PMM2, MKS1, BBS1, TPP1, AGA, AIRE, ARSA, ASPA, ELP1, CFTR, FANCC, GBA, BLM, DHCR7, DMD, GJB2, NPC1, RMRP, SMN1, ATM, HBA1, FKTN, HBA2, NEB, CTNS, PROP1, PPT1, SLC26A2, MCOLN1, POMGNT1, SLC17A5, TTPA, WAS, ABCC8, CLN5, PKHD1, DPYD, TMEM216, KCNJ11, CYP21A2, TNNT1, MEFV, F11, HGD Specificity 2 % Genes 50 %
AIP Sequencing. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. AIP Specificity 100 % Genes 50 %
AIP Deletion/duplication analysis. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. AIP Specificity 100 % Genes 50 %
BrainTumorNext. By Ambry Genetics in United States. VHL, APC, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, MEN1, TSC2, TSC1, ALK, NBN, PTCH1, PHOX2B, NF2, SUFU, CDKN2A, PRKAR1A, NF1 , (...) View the complete list with 7 more genes Panel GTR000560499 complete gene list VHL, APC, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, MEN1, TSC2, TSC1, ALK, NBN, PTCH1, PHOX2B, NF2, SUFU, CDKN2A, PRKAR1A, NF1, SMARCE1, SMARCA4, SMARCB1, CDKN1B, AIP, POT1, DICER1 Specificity 4 % Genes 50 %
CustomNext: Cancer. By Ambry Genetics in United States. BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, RB1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1 , (...) View the complete list with 48 more genes Panel GTR000560526 complete gene list BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, RB1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1, SDHA, FANCC, BLM, TSC2, TSC1, ALK, ATM, MRE11, NBN, PTCH1, PHOX2B, NF2, PALB2, SUFU, CDH1, STK11, CDK4, CDKN2A, SDHD, FLCN, MET, CHEK2, MAX, BMPR1A, SMAD4, RAD50, BRIP1, PRKAR1A, RAD51C, BARD1, RAD51D, NF1, MITF, SMARCE1, SMARCA4, SMARCB1, XRCC2, BAP1, CDKN1B, POLD1, GREM1, POLE, AIP, POT1, DICER1, GALNT12, HOXB13, NTHL1 Specificity 2 % Genes 50 %
Familial isolated pituitary adenoma (sequence analysis of AIP gene). By CGC Genetics in Portugal. AIP Specificity 100 % Genes 50 %
Familial isolated pituitary adenoma (deletion/duplication analysis of AIP gene). By CGC Genetics in Portugal. AIP Specificity 100 % Genes 50 %
OncoRisk Plus (NGS panel for 89 genes). By CGC Genetics in Portugal. BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, SDHC, FH , (...) View the complete list with 69 more genes Panel GTR000525735 complete gene list BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1, FANCC, BLM, TSC2, TSC1, NSD1, ALK, ATM, NBN, PTCH1, PHOX2B, NF2, PALB2, SUFU, CDH1, STK11, CDK4, CDKN2A, CDKN1C, SDHD, FLCN, MET, GPC3, CHEK2, MAX, BMPR1A, SMAD4, BRIP1, GATA2, SBDS, CEBPA, PRF1, PRKAR1A, CDC73, RAD51C, RAD51D, NF1, ERCC2, ERCC3, FANCB, EZH2, SMARCB1, KIT, FANCA, FANCG, FANCF, FANCE, SLX4, FANCM, FANCL, FANCI, FANCD2, BAP1, ERCC4, EXT2, EXT1, AIP, WRN, DICER1, ERCC5, XPA, BUB1B, CYLD, XPC, DIS3L2, DDB2, CEP57 Specificity 2 % Genes 50 %
AIP-Related Familial Isolated Pituitary Adenomas. By Exeter Molecular Genetics Laboratory in United Kingdom. AIP Specificity 100 % Genes 50 %
Familial Isolated Pituitary Adenoma via AIP Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. AIP Specificity 100 % Genes 50 %
Hereditary Cancer Syndromes - panels. By MGZ Medical Genetics Center in Germany. BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, HNF1A, WT1, RB1, SDHAF2, RET, SDHC , (...) View the complete list with 80 more genes Panel GTR000552439 complete gene list BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, HNF1A, WT1, RB1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1, FANCC, BLM, HRAS, TSC2, TSC1, NSD1, ALK, ATM, NBN, PTCH1, PHOX2B, NF2, PALB2, SUFU, CDH1, STK11, CDK4, CDKN2A, CDKN1C, SDHD, FLCN, MET, GPC3, CHEK2, MAX, BMPR1A, SMAD4, BRIP1, GATA2, SBDS, CEBPA, PRF1, PRKAR1A, CDC73, RAD51C, PMS1, RAD51D, NF1, ERCC2, ERCC3, FANCB, EZH2, SMARCB1, KIT, FANCA, FANCG, FANCF, FANCE, SLX4, FANCM, FANCL, FANCI, FANCD2, BAP1, ERCC4, POLD1, GREM1, EGFR, POLE, AXIN2, EXT2, EXT1, AIP, WRN, DICER1, ERCC5, XPA, BUB1B, CYLD, RHBDF2, NTHL1, XPC, DIS3L2, DDB2, CEP57, RNF43 Specificity 1 % Genes 50 %
AIP. By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands. AIP Specificity 100 % Genes 50 %
Pituitary adenoma, growth hormone-secreting. By Centogene AG - the Rare Disease Company in Germany. AIP Specificity 100 % Genes 50 %
AIP-Related Familial Isolated Pituitary Adenomas. By GGA - Galil Genetic Analysis in Israel. AIP Specificity 100 % Genes 50 %
Cancer Predisposition. By Asper Biogene Asper Biogene LLC in Estonia. BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, HNF1A, WT1, RB1, SDHAF2, RET, SDHC, FH , (...) View the complete list with 69 more genes Panel GTR000520069 complete gene list BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, HNF1A, WT1, RB1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1, FANCC, BLM, HRAS, TSC2, TSC1, NSD1, ALK, ATM, NBN, PTCH1, PHOX2B, NF2, PALB2, SUFU, CDH1, STK11, CDK4, CDKN2A, CDKN1C, SDHD, FLCN, MET, GPC3, CHEK2, MAX, BMPR1A, SMAD4, BRIP1, GATA2, SBDS, CEBPA, PRF1, PRKAR1A, CDC73, RAD51C, RAD51D, NF1, ERCC2, ERCC3, FANCB, SMARCB1, KIT, FANCA, FANCG, FANCF, FANCE, SLX4, FANCM, FANCL, FANCI, FANCD2, BAP1, ERCC4, EGFR, EXT2, EXT1, AIP, WRN, DICER1, ERCC5, XPA, CYLD, RHBDF2, XPC, DIS3L2, DDB2 Specificity 2 % Genes 50 %
Pituitary adenomas, familial: AIP gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. AIP Specificity 100 % Genes 50 %
Pituitary adenoma, familial: AIP gene deletions-duplications analysis (MLPA). By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. AIP Specificity 100 % Genes 50 %
ONCOLOGY, PANEL. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, WT1, RB1, SDHAF2, RET, KIF1B, SDHC, FH, SDHB, TMEM127 , (...) View the complete list with 60 more genes Panel GTR000531499 complete gene list BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, WT1, RB1, SDHAF2, RET, KIF1B, SDHC, FH, SDHB, TMEM127, MEN1, SDHA, FANCC, BLM, BRAF, TSC2, TSC1, NSD1, ATM, NBN, PTCH1, PALB2, CDH1, STK11, CDK4, CDKN2A, SDHD, FLCN, MET, GPC3, CHEK2, MAX, BMPR1A, SMAD4, BRIP1, PRKAR1A, CDC73, RAD51C, PMS1, RAD51D, ERCC2, ERCC3, FANCB, DKC1, TERT, SMARCA4, SMARCB1, PRSS1, KIT, NOP10, FANCA, FANCG, FANCF, FANCE, SLX4, FANCL, FANCI, FANCD2, XRCC2, CDKN1B, ERCC4, GREM1, PDGFRA, ELANE, AIP, ERCC5, XPA, HOXB13, XPC, POLH Specificity 2 % Genes 50 %
Hereditary Cancer Syndrome: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, WT1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1, BLM , (...) View the complete list with 40 more genes Panel GTR000512650 complete gene list BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, WT1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1, BLM, TSC2, TSC1, ALK, ATM, MRE11, NBN, PTCH1, PHOX2B, NF2, PALB2, SUFU, CDH1, STK11, CDK4, CDKN2A, CDKN1C, SDHD, FLCN, MET, GPC3, CHEK2, MAX, BMPR1A, SMAD4, RAD50, BRIP1, PRKAR1A, CDC73, RAD51C, BARD1, RAD51D, SMARCA4, SMARCB1, MGMT, XRCC2, BAP1, CDKN1B, POLD1, AIP, BUB1B Specificity 2 % Genes 50 %
Endocrine Cancer: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. VHL, PTEN, TP53, SDHAF2, RET, SDHC, SDHB, TMEM127, MEN1, SDHD, PRKAR1A, CDC73, CDKN1B, AIP, MXD1 Specificity 7 % Genes 50 %
Hereditary Cancer NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, TP53, WT1, RB1, SDHAF2, RET, MC1R, TYR, KIF1B , (...) View the complete list with 92 more genes Panel GTR000509427 complete gene list BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, TP53, WT1, RB1, SDHAF2, RET, MC1R, TYR, KIF1B, SDHC, FH, SDHB, TMEM127, MEN1, SDHA, TSHR, FANCC, BLM, HRAS, PTPN11, TSC2, TSC1, ATM, MRE11, NBN, PTCH1, NF2, PALB2, SUFU, CDH1, STK11, CDK4, CDKN2A, SDHD, FLCN, MET, GPC3, CHEK2, MAX, BMPR1A, SMAD4, RAD50, BRIP1, SBDS, PRKAR1A, RAD51C, BARD1, PMS1, RAD51D, MPL, NF1, ERCC2, ERCC3, CTNNB1, FANCB, ATR, MITF, TERT, SMARCB1, PRSS1, KIT, FANCA, FANCG, FANCF, FANCE, SLX4, FANCM, FANCL, FANCI, FANCD2, XRCC2, BAP1, CDKN1B, ERCC4, RBBP8, POLD1, EGFR, PDGFRA, AXIN2, EXT2, EXT1, AIP, PRKDC, WRN, EGLN1, DICER1, ERCC5, XPA, RAD51, BUB1B, GALNT12, CYLD, HOXB13, XPC, DDB2, MSH3, ROBO2, PICALM, XRCC3, EXO1, RBM15 Specificity 1 % Genes 50 %
AIP. By Fulgent Genetics Fulgent Genetics in United States. AIP Specificity 100 % Genes 50 %
Comprehensive Cancer Panel. By Fulgent Genetics Fulgent Genetics in United States. BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, MC1R, TYR , (...) View the complete list with 104 more genes Panel GTR000531711 complete gene list BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, MC1R, TYR, KIF1B, SDHC, FH, SDHB, TMEM127, MEN1, SDHA, TSHR, FANCC, BLM, HRAS, PTPN11, TSC2, TSC1, ALK, ATM, MRE11, NBN, PTCH1, PHOX2B, NF2, PALB2, SUFU, CDH1, STK11, CDK4, CDKN2A, CDKN1C, SDHD, FLCN, MET, GPC3, CHEK2, MAX, BMPR1A, SMAD4, RAD50, BRIP1, GATA2, SBDS, CEBPA, PRKAR1A, CDC73, RAD51C, BARD1, PMS1, RAD51D, MPL, NF1, CASR, ERCC2, ERCC3, FANCB, ATR, EZH2, MITF, TERT, SMARCE1, SMARCA4, SMARCB1, PRSS1, KIT, FANCA, FANCG, FANCF, FANCE, SLX4, FANCM, FANCL, FANCI, FANCD2, XRCC2, BAP1, CDKN1B, ERCC4, RBBP8, POLD1, GREM1, PDGFRA, POLE, AXIN2, EXT2, EXT1, AIP, PRKDC, WRN, EGLN1, DICER1, ERCC5, XPA, RAD51, BUB1B, GALNT12, CYLD, HOXB13, XPC, DIS3L2, DDB2, MSH3, ROBO2, PICALM, XRCC3, EXO1, RBM15 Specificity 1 % Genes 50 %
Comprehensive Hereditary Cancer Panel. By Blueprint Genetics in Finland. BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, HNF1A, WT1, SDHAF2, RET, SDHC, RAF1 , (...) View the complete list with 126 more genes Panel GTR000552807 complete gene list BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, HNF1A, WT1, SDHAF2, RET, SDHC, RAF1, FH, SDHB, ANKRD26, TMEM127, MEN1, SDHA, FANCC, BLM, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, TINF2, SOS2, RIT1, MAP2K2, TSC2, CBL, TSC1, NSD1, ALK, ATM, MRE11, NBN, PTCH1, PHOX2B, NF2, PALB2, SUFU, CDH1, STK11, CDK4, CDKN2A, CDKN1C, SDHD, FLCN, MET, GPC3, CHEK2, MAX, BMPR1A, SMAD4, RAD50, BRIP1, GATA2, PAX5, SBDS, CEBPA, PRF1, PRKAR1A, CDC73, RAD51C, BARD1, PMS1, RAD51D, NF1, ERCC2, ERCC3, LZTR1, FANCB, DKC1, SPRED1, NSUN2, RASA2, RRAS, EZH2, MITF, TERC, TERT, SMARCA4, SMARCB1, KIT, KITLG, FANCA, FANCG, FANCF, FANCE, SLX4, FANCM, FANCL, FANCI, FANCD2, XRCC2, BAP1, CDKN1B, ERCC4, SRP72, POLD1, GREM1, EGFR, PDGFRA, IKZF1, ETV6, POLE, AXIN2, EXT2, EXT1, ELANE, AIP, POT1, SAMD9L, DDX41, WRN, DICER1, ERCC5, XPA, BUB1B, CYLD, RHBDF2, HOXB13, NTHL1, XPC, POLH, DIS3L2, DDB2, MLH3, ERCC1, CEP57, CD70, EXO1, PPM1D, REST Specificity 1 % Genes 50 %
Hereditary Endocrine Cancer Panel. By Blueprint Genetics in Finland. VHL, APC, PTEN, TP53, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1, SDHA, SDHD, MET, MAX, PRKAR1A, CDC73, NF1, CDKN1B, AIP , (...) View the complete list with 2 more genes Panel GTR000552750 complete gene list VHL, APC, PTEN, TP53, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1, SDHA, SDHD, MET, MAX, PRKAR1A, CDC73, NF1, CDKN1B, AIP, WRN, DICER1 Specificity 5 % Genes 50 %
FAMILIAL PITUITARY ADENOMA. By Laboratorio de Genetica Clinica SL in Spain. AIP Specificity 100 % Genes 50 %
ACROMEGALY. By Laboratorio de Genetica Clinica SL in Spain. AIP Specificity 100 % Genes 50 %
ACTH- secreting Pituitary Adenoma , Sequencing AIP Gene. By Reference Laboratory Genetics in Spain. AIP Specificity 100 % Genes 50 %
Prolactin-secreting Pituitary Adenoma , Sequencing AIP Gene. By Reference Laboratory Genetics in Spain. AIP Specificity 100 % Genes 50 %
Growth Hormone-secreting Pituitary Adenoma , Sequencing AIP Gene. By Reference Laboratory Genetics in Spain. AIP Specificity 100 % Genes 50 %
Pituitary Adenoma , Deletions-Duplications (MLPA) AIP Gene. By Reference Laboratory Genetics in Spain. AIP Specificity 100 % Genes 50 %
Oncology Genetic Panel , Panel Massive Sequencing (NGS) 90 Genes. By Reference Laboratory Genetics in Spain. BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, HNF1A, WT1, RB1, SDHAF2, RET, SDHC , (...) View the complete list with 70 more genes Panel GTR000559668 complete gene list BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, HNF1A, WT1, RB1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1, FANCC, BLM, TSC2, TSC1, NSD1, ALK, ATM, NBN, PTCH1, PHOX2B, NF2, PALB2, SUFU, CDH1, STK11, CDK4, CDKN2A, CDKN1C, SDHD, FLCN, GPC3, CHEK2, MAX, BMPR1A, SMAD4, BRIP1, GATA2, SBDS, CEBPA, PRF1, PRKAR1A, CDC73, RAD51C, RAD51D, NF1, ERCC2, ERCC3, FANCB, EZH2, SMARCB1, KIT, FANCA, FANCG, FANCF, FANCE, SLX4, FANCL, FANCI, FANCD2, BAP1, ERCC4, EGFR, EXT2, EXT1, AIP, WRN, DICER1, ERCC5, XPA, BUB1B, CYLD, RHBDF2, XPC, DIS3L2, DDB2, CEP57 Specificity 2 % Genes 50 %
Phosphorus Brain and Nervous System Cancer Panel. By Phosphorus Diagnostics LLC in United States. VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, RB1, SDHAF2, RET, SDHC, SDHB, TMEM127, MEN1, SDHA, HRAS, TSC2, TSC1 , (...) View the complete list with 15 more genes Panel GTR000558452 complete gene list VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, RB1, SDHAF2, RET, SDHC, SDHB, TMEM127, MEN1, SDHA, HRAS, TSC2, TSC1, ALK, PTCH1, PHOX2B, NF2, SUFU, SDHD, MAX, PRKAR1A, NF1, SMARCE1, SMARCA4, SMARCB1, CDKN1B, AIP, DICER1 Specificity 3 % Genes 50 %
Phosphorus Pan-Cancer Panel. By Phosphorus Diagnostics LLC in United States. BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, SDHC, FH , (...) View the complete list with 63 more genes Panel GTR000558459 complete gene list BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1, SDHA, FANCC, BLM, HRAS, TSC2, TSC1, ALK, ATM, NBN, PTCH1, PHOX2B, NF2, PALB2, SUFU, CDH1, STK11, CDK4, CDKN2A, CDKN1C, SDHD, FLCN, MET, GPC3, CHEK2, MAX, BMPR1A, SMAD4, RAD50, BRIP1, GATA2, CEBPA, PRKAR1A, CDC73, RAD51C, BARD1, RAD51D, NF1, CASR, MITF, TERC, TERT, SMARCE1, SMARCA4, SMARCB1, KIT, XRCC2, BAP1, CDKN1B, POLD1, GREM1, EGFR, PDGFRA, POLE, AXIN2, AIP, POT1, WRN, DICER1, HOXB13, DIS3L2 Specificity 2 % Genes 50 %
Tempus xO assay. By Tempus Labs, Inc. in United States. BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...) View the complete list with 1693 more genes Panel GTR000558444 complete gene list BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG, LRP5, COL3A1, STAT1, WT1, PAX6, TGFB1, TLR4, RB1, PSEN1, SDHAF2, HNF1B, RET, MC1R, CASP8, COMT, SHH, DSP, KIF1B, SDHC, RAF1, FH, FBN1, GOT1, PRPF6, MERTK, IDH2, SDHB, HAX1, CTSD, PHOX2A, MAOA, AMER1, BCOR, PRKN, PPP2R1B, SOX2, CYP17A1, NCOA4, ZFHX3, TMEM127, STAT3, MEN1, PAX2, PLA2G2A, PHB, TEAD1, MAK, SDHA, IL2RG, TSHR, FGFR3, AR, ARX, ELP1, FANCC, BLM, BRAF, CHD7, CREBBP, FOXG1, GLA, HRAS, KRAS, LDLR, LEPR, MAP2K1, NRAS, PTPN11, RUNX2, SHOC2, SOS1, TINF2, VDR, FGFR2, SOS2, HDAC8, RIT1, MAP2K2, TSC2, RAD21, CBL, SMC3, SMC1A, TSC1, NIPBL, NSD1, ALK, ATM, MRE11, NBN, PTCH1, PHOX2B, NF2, PALB2, SUFU, CDH1, STK11, CDK4, CDKN2A, CDKN1C, SDHD, FLCN, MET, GPC3, CHEK2, MAX, BMPR1A, SMAD4, RAD50, BRIP1, GATA2, PAX5, SBDS, CEBPA, PRF1, PRKAR1A, CDC73, RAD51C, BARD1, PMS1, RAD51D, G6PD, UGT1A1, MPL, WAS, BTK, PKHD1, DPYD, NDRG1, EGR2, DNM2, LMNA, NTRK1, WNK1, PSEN2, NOTCH3, PPP2R2B, TBP, NF1, LRRK2, NR0B1, FGFR1, LHCGR, GNRHR, FGF8, HSD11B2, CYP21A2, GHR, FGF23, MYH7, PDK1, CACNA1S, RYR1, FUS, MYBPC3, SYNE1, TMEM43, SMCHD1, MUSK, FGF14, MCPH1, KCNH2, CHD2, GRIN2A, SCN5A, KMT2D, MAGI2, SETD2, TBL1XR1, TCF4, ATRX, PHF6, PAK3, KDM5C, CUL4B, SETBP1, ZEB2, HGF, ERCC2, ERCC3, DIAPH1, DNMT1, PAX3, SOX10, KCNQ1, PTPRQ, CDC14A, FGF3, GATA3, ROR1, DIAPH3, MID1, MED12, FOXP2, FOXP1, EHMT1, CACNA1C, ARID1B, CTNNB1, LZTR1, FAT4, KAT6B, GATA1, RPL5, RASA1, FOXP3, PHF8, AFF2, FANCB, DKC1, USP9X, RBM10, BRWD3, TAF1, SOX3, KLF8, ZMYM3, CDK16, RAB23, POR, TWIST1, SOX9, SPRED1, MTOR, ABCB1, GLI2, ATR, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, ACTA2, MYH11, PRDM5, ACVR1, DNMT3A, NFIX, EZH2, GLI3, CACNB2, PKP2, MITF, RYR2, KCNJ5, AKAP9, TP63, KDM6A, TFG, CTNNA1, CDH3, MAF, TERC, BMPR1B, TERT, SMAD9, CSF2RA, CSF2RB, NKX2-1, ACTC1, PRDM16, NKX2-5, TNNI3, PRKAG2, DSG2, JUP, TPM1, TNNT2, DSC2, MYL2, MYL3, NEK2, NEK9, RIPK4, ERBB3, ARID2, SMARCE1, HELLS, KMT2A, SMARCA4, SMARCB1, ARID1A, SMARCA2, NT5C2, VEGFC, TEK, FLT4, SH2D1A, FGF10, PRSS1, WNK3, MBD3, MBD1, ACE, EP300, KIT, ASXL1, JAK3, SH2B3, MGMT, CALR, DBH, NHP2, NOP10, GNAS, NR3C2, WNT1, CREB3L1, SMAD2, NOD2, KITLG, FANCA, FANCG, FANCF, FANCE, CYP2C19, SLX4, FANCM, FANCL, FANCI, FANCD2, CYP2D6, XRCC2, BAP1, CDKN1B, STK3, SLC6A4, BDNF, VEGFA, ERCC4, THPO, USB1, NEK8, GLIS2, PIK3CA, MYCN, IL11RA, CSF1R, HMGCR, DRD2, SLC6A3, ACVR2B, APOA1, PCSK9, APOB, POLD1, GREM1, ABCG1, ABCA1, AKT2, PAX4, BLK, GLIS3, GATA6, GGCX, GNAQ, TBXAS1, HOXA11, GFI1B, RARB, FLT3, NPM1, TPMT, EGFR, JAK2, ABL1, ZRSR2, U2AF1, TET2, STAG2, SRSF2, SF3B1, PDGFRA, MYD88, IKZF1, IDH1, FBXW7, ETV6, CUX1, CSF3R, CBLB, BCORL1, CBLC, CD40, CD40LG, IL7R, ZAP70, ABRAXAS1, POLE, AXIN2, GNA11, INSR, PIK3R2, AKT3, AKT1, EXT2, EXT1, FAS, ELANE, XIAP, FASLG, ITK, G6PC3, GFI1, RAC2, STAT5B, PTPRC, BCR, PIK3CD, NFKBIA, FADD, AIP, CIITA, IL12RB1, STK4, NFKB2, ABCC2, CTLA4, IL10RA, VKORC1, PIK3R1, ICOS, IL10RB, PRKDC, TYK2, NOTCH2, EPOR, TRAF3, POT1, CARD11, SAMD9, PRMT7, NTRK2, WNT5A, NFIA, IL2RA, NKX2-2, MNX1, ZBTB20, ZNF423, CCND2, ESCO2, HOXA13, DHH, DNMT3B, ROR2, WNT4, WNT7A, MAP3K1, IRF6, ICK, NEK1, FSHR, MAMLD1, FGF17, CDK5, SRC, RUNX1T1, FLI1, CENPE, CDK6, ZMYND11, SETD5, CLIP1, CTCF, CRBN, ERF, TCF12, CDC6, PLK4, WRN, PLAGL1, ASXL3, PAX8, CYP2R1, CDH7, DICER1, PDGFRB, PDGFB, KMT2B, CAMTA1, ERCC5, FGF12, MAPK10, XPA, PRDM8, RAD51, BUB1B, GALNT12, NSD2, HOXD13, NKX3-2, ALOX12B, CYLD, CTNNA3, FLG, NLRP1, FLT1, KDR, WNT10A, ZNF384, TNFAIP3, NCSTN, LYN, PSENEN, CARD8, HTR1A, PLCG2, GATA5, KDSR, B2M, ASCL1, GDNF, CUL3, WNK4, LIFR, SLCO1B1, SLCO1B3, VAV1, BLNK, CD79A, CD79B, CYP2C9, NGF, HOXD10, HLA-B, KEL, DHFR, HOXB13, DDX3X, KAT6A, GRB10, HOXA3, CDK19, MAP3K3, RBPJ, XPC, HR, FGF9, TMC6, CYP1A2, TMC8, TWIST2, NR3C1, IGF1, CCND1, SLC26A3, BCL2, HDAC4, TBX3, CDK12, PRPF40B, ARID5B, CEBPE, MTAP, DDB2, DUSP22, ABL2, NFKB1, IL21R, SMAD6, MALT1, FBXW11, MLH3, ETV5, IGF1R, WNT10B, MDM2, DDR2, RNF213, CTNNA2, PALLD, EGF, SOX17, MAFB, AURKC, PML, MSH3, DEK, TRAF3IP2, IL17RA, ROBO2, PICALM, WNT3, ERBB2, CBFB, PAX9, ERCC1, RARA, TCF3, PBX1, ZBTB16, TAL1, AFF3, CYP3A4, NUP214, ADRB2, MN1, NAT2, MLLT3, EPHA2, MLLT1, CDKN2B, PTPRF, FGF20, PTCH2, YWHAE, SMO, LRP6, BCL6, MYC, BIRC3, RPN1, MECOM, CKS1B, CDKN2C, IGF2R, IHH, HOXC13, OSMR, DCC, RNF43, DVL1, TBX18, CYP2A6, CYP4F2, RXRA, GPC5, TNK2, FAT1, NUP93, PRRX1, MAP3K8, MAD2L2, CD70, CHD1L, PRDM12, NONO, NRTN, PRDM13, AXL, KDM1A, SMARCD2, BCL11A, PRLR, CBX2, BRDT, CHD4, TET1, MAPK8, CIC, MAP3K7, TRIO, ASH1L, KMT5B, KAT2B, HDAC6, PPP2R1A, JMJD1C, ERBB4, NKX2-6, TBX22, EED, DVL3, CTNND1, TRAF3IP1, KDM6B, CNKSR1, KDM5A, SETD1A, PARP1, NRIP1, EIF1AX, RICTOR, RAC1, PRKD1, MXD1, DACH1, STAT2, GLI1, BRD2, ELK1, IGF2, CCNE1, NRG1, KEAP1, NFE2L2, ARAF, BRD4, EML4, GNA13, RPTOR, ROS1, MYCL, NTRK3, FGFR4, KMT2C, PEAR1, CRHR1, STAG1, SS18L1, ESR1, NTF4, RRM1, CYP3A5, BCL10, KLF6, ADAM17, PHIP, CYP2B6, CDK11A, YAP1, XBP1, TLR5, LCK, IKBKB, ARNT2, INHBA, MLF1, CRLF2, ABI1, EGR1, PTPRT, MYBL2, SLC19A1, ADRB1, AXIN1, UBR5, ELP3, EWSR1, TAF15, PRKAR1B, DRD1, FGF16, SP110, RHOH, PAX1, CHD1, RBMXL2, PRDM9, ESR2, SMAD1, PERP, PPARA, TRIB1, EPHB4, SOX1, SEM1, PAX7, IL17RC, MAP3K14, DOCK2, SPRY2, CRK, GAB2, MAPK1, PIK3CB, CRKL, PIK3CG, TRAF6, FOXA2, FOXA1, FOLH1, RBM15, TBL1X, HTR2A, HSD3B1, BAX, PAK5, ABCG2, CHUK, CD44, CSNK1D, CREB1, FKBP5, GLCCI1, IL23R, IL4R, IRS2, HMGA1, IRF4, IRS1, HMGA2, PGR, IRF5, IL6R, MIPOL1, SMAD7, TLR2, TLR1, DIAPH2, EPHB2, ZNF750, ALOX5, MAD1L1, PRKACA, NR4A2, POU6F2, PPM1D, TCF7L2, SSTR5, RAD54L, RAD54B, PTGIS, GRB7, GRM3, GRK5, GRM8, GSK3B, GRK4, GPS2, GRB2, MYOD1, CBFA2T2, CBX8, NAB2, MYBL1, CDC20, NEK10, NFKBIE, CCNE2, NEK3, CDC25A, NOTCH2NLA, CDC25B, CDH2, NPR1, NCK2, NOTCH4, NFKBID, NCOA3, CDK9, CDK17, CDC25C, CDX2, CD80, CBX5, NFATC4, CD28, CES2, CDK14, CBX6, CCNB3, CCNL1, CDK2, CDK7, NEK5, CDH5, CEBPZ, CDH11, CDK20, CBX4, MYB, NKX2-3, NCK1, CDKN3, NQO1, NFATC1, CECR2, CDK3, CD22, CD1D, NKX3-1, NFIB, NEK7, NEK6, CDH20, CDKN1A, CDK10, CCND3, NEK4, CDK8, CDC42, NAB1, CDK1, NFATC3, CD276, MTDH, CDH10, CD86, NCOA1, CDK18, NEK11, NPPB, CDK15, CEBPG, CBX1, NCOR1, CD274, NCOA2, NFKBIZ, FLT3LG, FUBP1, GAB1, FRK, FOXO3, FRS3, FOS, FYN, FOSL2, FZR1, GABPA, FRS2, FOXP4, FOXO4, FOXN3, FOXL1, FOXA3, FOXM1, FGF2, ETS1, ETV2, FGF5, FGF18, TENT5C, FAT2, EXTL1, FEN1, FHIT, FER, FES, ETV3, ERG, ESRRA, FGF1, FGF7, EZH1, ETV7, ETS2, FBXO11, EREG, ESCO1, ESPL1, FBXO8, FGF6, ETV3L, FGR, FEV, FAT3, EPHA7, PHF1, ELF3, ELF2, DVL2, E2F3, ELF4, ECT2L, DNMT3L, PDS5B, EPHB3, EPGN, DMXL1, EPHA4, EPHA8, EHMT2, PHF2, EPHA5, EHF, EPHB6, PEG3, DYRK2, ELK3, ELF1, EPHA1, DOT1L, EBF1, E2F7, EPHA3, E2F6, ELF5, ELK4, EPHB1, PDCD1LG2, PDGFD, DCUN1D2, CYP2C8, DAXX, DDIT3, PBRM1, PDCD1, DIRAS3, DDX5, PBX2, PAXIP1, CYP2J2, PCBP1, DIS3, PAK6, PAK4, PARP2, PDGFC, DDR1, PATZ1, DDX6, DCUN1D1, PARP4, PAK1, CRTC2, CTCFL, CREB3L4, CREM, CSK, CTSS, COPS3, CSNK1E, CRTC3, CRTC1, CTSL, CSF1, CNTFR, CHD6, NUMB, NUP98, CNOT3, CARD10, NRG3, CHD3, CHIC2, CARD6, MSH4, CADM2, CHD9, NUMBL, CHEK1, NUTM2G, CMPK1, MST1, ODC1, MST1R, CHD5, CAPRIN2, NUTM1, NUTM2F, NR4A1, MAP2K6, MAU2, MAP4K1, MAP3K4, MAP3K15, BRPF1, MAD2L1, BTG2, BRPF3, BRD1, MAP3K5, MRTFB, MED29, MAPK9, BCL7A, MAP4K4, MLST8, BMI1, MAPK4, MAP4, BID, BRD9, BIRC5, MAML2, EMSY, BRD8, MED12L, BRD7, BRWD1, BCLAF1, MAP3K12, MAPK15, MAP3K2, MOS, MAML3, MAP3K19, MCL1, BTC, MAPK7, BIRC2, MRTFA, MOB1A, MAP2K7, BTRC, BRD3, MAP4K5, BCL9, MAP4K3, MAGED1, MAP2K4, MAP3K9, MATK, MAML1, MLLT10, MDM4, MAST2, MAP3K13, BUB1, BPTF, MAP4K2, MAPK6, MAST1, MAP2K3, MINK1, MAP2K5, MLLT11, MOB1B, MGA, BIRC8, MPG, BCL2A1, BABAM1, ARHGAP26, LGR4, ARFRP1, LATS2, ATAD2B, ASH2L, LDB1, ASCL4, ASCL3, BCAR3, LATS1, ATF1, LMO1, AURKB, BCL2L2, ATAD2, BACH1, ARPC1A, LMTK3, ARHGAP35, ASXL2, LMTK2, LMO7, BACH2, BAZ2B, BCL2L11, BAZ2A, ARNT, LSM1, LPP, APH1A, LGR5, LGR6, LEF1, BAZ1A, LRP1B, APEX1, ASPSCR1, LTK, BAG4, BAZ1B, ARPC1B, JARID2, JMJD4, IL20RB, ITPKB, KDM4A, HNRNPA3, HSP90AA1, HSP90AB1, IKZF3, IL22RA1, IL22RA2, ID2, IFNLR1, JMJD6, IQGAP1, IL3, KMT2E, KLF12, KDM3A, IL17RB, INPP4B, IQGAP2, ING1, IL18R1, IKBKE, JAZF1, IL6ST, KDM4B, KDM5B, HOXB3, IL20RA, HOXA9, ING4, JMJD8, MAP3K21, KDM8, IL1R1, JMJD7, HSPBAP1, IRS4, KMT5A, INTS12, HOXC10, KAT7, KDM1B, HOXA10, IRAK1, KDM4C, KLF5, JUN, KAT2A, JAK1, IL12RB2, KDM4D, KDM2B, ID3, KDM3B, KAT8, HOXD4, IL1RAP, KDM7A, IL5RA, IKBIP, KDM2A, IQGAP3, IL1R2, JUNB, ID1, IKZF2, HOXD3, JADE1, AJUBA, IL18RAP, HDAC7, HCK, HDAC11, HIF1A, HDAC2, HIST1H4E, HDAC10, HIST1H1E, GTPBP4, HEY1, HDAC9, HDAC3, HDGF, HBEGF, HDAC1, HIF1AN, HIST1H3B, HEY2, HLTF, PHLPP2, PIK3C3, PRDM1, PIM2, POU5F1, PLK1, PRMT1, PRDM2, PMAIP1, PIM1, POU5F2, PLK3, POU2AF1, PIK3C2A, POU5F1B, PRMT6, PPARD, PPFIA1, PRDM6, PIK3R3, PRSS3, PLAGL2, PRDM7, PRDM11, PPP1R1C, PREX2, POU6F1, PLK2, PRDM14, PRKCI, PNRC1, PIK3C2B, PRMT3, PRCC, PRMT8, PRDM4, PIK3R4, PLCG1, PLAG1, PRDM10, PIK3C2G, PRMT5, UHRF1, VTCN1, TOP2B, TRIM66, VAV3, TSHZ3, UBE2D4, TMPRSS2, VGLL1, U2AF2, UBE2D1, VEGFB, TRAF1, UGT1A4, TOP2A, TPTE, UBE4A, TNFRSF14, TRIB2, TRRAP, TLR9, TP53BP1, UHRF2, TYRO3, TRAF3IP3, TRIB3, TNK1, TXK, UBE2D2, TRAF7, TNFRSF17, VAV2, VHLL, TLX2, WAPL, TRAF2, TLX3, UBE2D3, TNKS, TPTE2, ZCCHC7, ZC3H12A, YWHAQ, WNT8A, TLR6, YWHAZ, ZNF639, WNT3A, ZBTB5, TLK1, ZNF521, TIE1, ZNF217, ZBTB7B, ZNF704, YY1, YES1, XPO1, XIRP2, ZBTB33, YWHAH, WNT6, YWHAB, WISP1, ZNF607, TLR10, WNT16, WWTR1, WNT7B, TGFA, WNT8B, WNT5B, ZMYND8, WNT2, TLR8, TLK2, ZC3H7B, ZNF471, ZNF668, WNT2B, NSD3, TLR7, WNT11, ELOC, TBX2, SSX3, SPIC, SRGAP3, STAT4, KMT5C, SMURF2, SULT1A1, SP100, SOX8, SS18, SSX1, TFEC, SPOP, TCF7, SP140, SPRED2, STAT5A, TERF1, SPI1, SP140L, TEAD2, TENM2, SMYD4, TET3, SMC5, SLCO1A2, SOCS1, SLIT2, SPEN, STYK1, TAF1L, SP3, SPOPL, TEAD4, SSTR2, SMARCA5, STK19, TEAD3, SLCO2B1, TAOK1, SMC1B, SPDEF, TCL1A, SYK, TAOK2, SUV39H2, SMC4, SMYD5, STARD3, SMYD3, TEC, TCF7L1, STK36, SMC6, SSTR1, SMAD5, SUV39H1, STAT6, SLC47A2, SSTR3, SMC2, SLC47A1, TAOK3, RSPO2, SKOR1, RIPK3, RYK, SETD9, SETD3, RPA1, RPS6KB2, SLC15A2, REL, SETDB1, ROCK1, SETMAR, REC8, RHOB, RHEB, RSPO3, SAV1, SKP2, SLC22A1, ROCK2, SH3GL1, SLC22A6, SETD4, SHC1, SHC4, SLC22A2, RIPK1, RELA, SF3A1, RNF40, SF1, SGO1, SLC22A3, SETD7, RHOT1, SFRP1, SGO2, SETDB2, RIPK2, RUVBL1, SGK1, SKIL, RPS6KB1, RUNX3, SHB, SETD1B, RAB25, PTK6, PTPRB, PVT1, PRSS8, PTK7, RAD52, RBM14, PTPRJ, RAD51B, PTPRR, PTGS1, PTTG1, PTPRG, PSIP1, RAD51AP1, PTGS2, PTK2, PTK2B, PTPRM, PTPRK, PTPN21, PTPN2, PSPN, RABEP1, PTPRD, PTPN6, ADGRL2, ADGRB3, ADAMTS20, ACVR1B, ACSL6, ACVR2A, AATK, ABCC1, AFF1, AHR, ADGRL3, ADGRA2, BTG1, SET, BCL3, ETV1, FOXO1, TFE3, CREB3L2, MSI2, NR4A3, SSX4, TFEB, ETV4, SSX2, NUTM2A, NUTM2B, HLA-A, BCL11B, CDK13, KLF4, H3F3A, BCL2L1, RHOA, HES1, FGF19, NCOR2, SUZ12, SMARCA1, FGF4, MAP3K6, TOP1, AURKA, MEF2B, ZNF703, GID4, MAPK3, TRIM33, WIF1, SFPQ, LYL1, MDS2, RAP1GDS1, LMO2, HOXC11, TAL2, MLLT6, HLF, OLIG2, CBFA2T3, CCDC6, TLX1, HOXD11, MTCP1, NKX2-8, ICOSLG, USP9Y, CES1, PDPK1, POU2F2, YEATS4, TBC1D12, FOXQ1, ZNRF3, PPP6C, RELB, CDX1, E2F5, TRIM24, SMYD2, HDGFL3, MAPK12, EPHA6, SMARCD1, VEGFD, ASCL5, GFRA4, PRRX2, KDM5D, PBX3, BMX, MAPK11, VGLL2, FGF21, CKS2, JUND, CDK11B, TRIM28, CHIC1, TEF, WNT9A, UTY, CUL4A, SMARCC1, SOX21, NRG2, GLIS1, CASC11, WASL, KHSRP, PAK2, MAP3K11, PDGFA, MAP3K10, PIM3, SETD6, MAPK14, ASCL2, HES2, NKX2-4, BTG3, DACH2, PDS5A, CBX3, NRG4, MAPK13, IL3RA, ALKBH6, CARM1, SHC2, SPRED3, VGLL4, RARG, FGF11, IL15RA, TNKS2, SMARCD3, SPIB, NTF3, WNT9B, ARHGAP10, GSK3A, RBMXL1, FOSL1, SPRY3, GSTT1, VGLL3, ZC3H12D, NFATC2, PRMT2, RBMX, SMYD1, ID4, FGF22, ZNF444, FKBP9, HDAC5, IL2RB, TCL1B, IL9R, NFIC, CEBPD, HES4, IL13RA1, SHC3, CBX7, BUB3, INSRR, WNK2, ARTN, SSTR4, PHLPP1, GUCY1A2, FOSB, SMURF1, BBC3, SRMS, PGF, NFKBIB, FGF13, KAT5, PBX4, PRKACB, AREG, CEBPB, E2F1, PRDM15 Specificity 1 % Genes 50 %
CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. BRCA1, BRCA2, HFE, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, MC1R , (...) View the complete list with 123 more genes Panel GTR000560391 complete gene list BRCA1, BRCA2, HFE, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, MC1R, KIF1B, SDHC, FH, FAH, SDHB, NDUFA13, RNASEL, TMEM127, MEN1, SDHA, FANCC, BLM, TINF2, TSC2, TSC1, ALK, ATM, MRE11, NBN, PTCH1, PHOX2B, NF2, PALB2, SUFU, CDH1, STK11, CDK4, CDKN2A, SDHD, FLCN, MET, GPC3, CHEK2, MAX, BMPR1A, SMAD4, RAD50, BRIP1, GATA2, SBDS, CEBPA, PRKAR1A, CDC73, RAD51C, BARD1, RAD51D, RTEL1, WAS, NTRK1, NF1, CYP21A2, ERCC2, ERCC3, FANCB, DKC1, ATR, ANTXR2, TGFBR1, GLI3, MITF, LYST, TERT, ERCC6, SMARCA4, SMARCB1, GLMN, KIT, FANCA, FANCG, FANCF, FANCE, SLX4, FANCM, FANCL, FANCI, FANCD2, BAP1, CDKN1B, ERCC4, PIK3CA, POLD1, PDGFRA, POLE, AXIN2, AKT1, EXT2, EXT1, LIG4, AIP, KLHDC8B, ESCO2, RSPO1, CD96, WRN, DICER1, ERCC5, XPA, BUB1B, GALNT12, CYLD, KDR, RHBDF2, ANTXR1, XPC, PDE11A, TMC6, TMC8, UROD, POLH, MTAP, DIS3L2, DDB2, MLH3, PALLD, PTCH2, XRCC3, MSR1, ASCC1, MSMB, EPHB2, POU6F2, EHBP1, RAD51B Specificity 1 % Genes 50 %
Endocrine Cancer: gene sequencing Panel. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. VHL, PTEN, TP53, SDHAF2, RET, SDHC, SDHB, TMEM127, MEN1, SDHD, MAX, PRKAR1A, CDC73, CDKN1B, AIP Specificity 7 % Genes 50 %
Hereditary Cancer Syndrome: Gene Sequencing Panel. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, WT1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1, BLM , (...) View the complete list with 40 more genes Panel GTR000560410 complete gene list BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, WT1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1, BLM, TSC2, TSC1, ALK, ATM, MRE11, NBN, PTCH1, PHOX2B, NF2, PALB2, SUFU, CDH1, STK11, CDK4, CDKN2A, CDKN1C, SDHD, FLCN, MET, GPC3, CHEK2, MAX, BMPR1A, SMAD4, RAD50, BRIP1, PRKAR1A, CDC73, RAD51C, BARD1, RAD51D, SMARCA4, SMARCB1, MGMT, XRCC2, BAP1, CDKN1B, POLD1, AIP, BUB1B Specificity 2 % Genes 50 %

Alternate names

Pituitary Adenoma 1, Multiple Types; Pita1 Is also known as somatotropinoma, familial isolated;fis, isolated familial somatotropinoma;ifs, somatotrophinoma, familial, acromegaly due to pituitary adenoma 1, pagh1;fipa.

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE; SPG11 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II; MOPD2 SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY; SPOAN MUCOPOLYSACCHARIDOSIS, TYPE IVA; MPS4A AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1 SPERMATOGENIC FAILURE, Y-LINKED, 2; SPGFY2 JOUBERT SYNDROME 31; JBTS31