Ciliary Dyskinesia, Primary, 1; Cild1

Description

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

Clinical Features

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

  • Pica
  • Milia
  • Ventriculomegaly
  • Hydrocephalus
  • Respiratory distress
  • Pneumonia
  • Recurrent respiratory infections
  • Recurrent infections
  • Rod-cone dystrophy
  • Headache
And another 32 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

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


Mendelian

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Ciliary Dyskinesia, Primary, 1; Cild1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories in United States.

GSN, NEFH, SOD1, TEAD1, PHB, PLA2G2A, AKAP10, PNKD, PAX2, CPOX, ABCB7, TAZ, TIMM8A, GK, PDHA1, HCCS, NYX, FRMD7, OTC, RP2 , (...)

View the complete list with 617 more genes
Specificity
1 %
Genes
5 %
RPGR Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

RPGR
Specificity
100 %
Genes
3 %
Cone-Rod Dystrophy Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

CNNM4, PDE6H, RAX2, RAB28, TTLL5, POC1B, ATF6, CFAP410, UNC119, RDH5, CNGA3, PITPNM3, GUCA1A, EYS, RIMS1, CERKL, SEMA4A, KCNV2, CACNA2D4, ADAM9 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
3 %
Primary Ciliary Dyskinesia and Cystic Fibrosis Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, DRC1, ZMYND10, ARMC4, RSPH1 , (...)

View the complete list with 22 more genes
Specificity
86 %
Genes
90 %
Ciliopathies.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

EVC2, EVC, ARL13B, GLIS2, IFT80, CPLANE1, CEP41, GATA4, GDF1, IFT43, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, ZIC3, B9D1 , (...)

View the complete list with 73 more genes
Specificity
17 %
Genes
38 %
PulmoGene Panel (64 Genes).

By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States.

GDNF, ASCL1, BDNF, SFTPA1, SFTPA2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, SFTPC, ABCA3, NKX2-1, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, LTBP4, DNAAF1 , (...)

View the complete list with 44 more genes
Specificity
22 %
Genes
35 %
Retinitis Pigmentosa/Leber Congenital Amaurosis Panel, Sequencing and Deletion/Duplication, 53 Genes.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

ROM1, PRPF3, NR2E3, RP9, RP2, PRPF8, PRPF31, CA4, EYS, LCA5, FSCN2, CERKL, TOPORS, SEMA4A, SNRNP200, PRCD, RD3, RDH12, KLHL7, LRAT , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
3 %
RPGR. Sequencing of the exons 1-15.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

RPGR
Specificity
100 %
Genes
3 %
Primary Ciliary Dyskinesia Seq + Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

HYDIN, DNAH6, DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, DRC1, ZMYND10 , (...)

View the complete list with 17 more genes
Specificity
92 %
Genes
85 %
Comprehensive Pulmonary-Vascular Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

HYDIN, DNAH6, COPA, EIF2AK4, NOTCH2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, ABCA3, NKX2-1, DNAH11, KCNA5, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40 , (...)

View the complete list with 44 more genes
Specificity
52 %
Genes
83 %
Primary Ciliary Dyskinesia Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

HYDIN, DNAH6, DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, DRC1, ZMYND10 , (...)

View the complete list with 17 more genes
Specificity
92 %
Genes
85 %
Comprehensive Pulmonary-Vascular Seq + Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

HYDIN, DNAH6, COPA, EIF2AK4, NOTCH2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, ABCA3, NKX2-1, DNAH11, KCNA5, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40 , (...)

View the complete list with 44 more genes
Specificity
52 %
Genes
83 %
Cone-rod dystrophy, X-linked (sequence analysis of exon 15a of RPGR gene).

By CGC Genetics in Portugal.

RPGR
Specificity
100 %
Genes
3 %
Retinitis pigmentosa 3 (sequence analysis of RPGR gene).

By CGC Genetics in Portugal.

RPGR
Specificity
100 %
Genes
3 %
Retinitis pigmentosa (NGS panel for 72 genes).

By CGC Genetics in Portugal.

RDH11, TUB, ECM1, KIAA1549, ADGRA3, ARL2BP, NEK2, PRPF4, RBP4, DHX38, GNPTG, NMNAT1, ROM1, RBP3, PRPF3, NR2E3, MAK, RP9, BBS1, CYP4V2 , (...)

View the complete list with 52 more genes
Specificity
2 %
Genes
3 %
Retinitis pigmentosa, AR and X-linked (NGS panel for 53 genes).

By CGC Genetics in Portugal.

RDH11, TUB, KIAA1549, ADGRA3, ARL2BP, NEK2, EMC1, RBP4, DHX38, GNPTG, NMNAT1, RBP3, NR2E3, MAK, BBS1, CYP4V2, RP2, EYS, CERKL, FLVCR1 , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
3 %
Retinitis pigmentosa, AD and X-linked (NGS panel for 27 genes).

By CGC Genetics in Portugal.

PRPF4, ROM1, PRPF3, NR2E3, RP9, RP2, PRPF8, PRPF31, CA4, FSCN2, TOPORS, SEMA4A, SNRNP200, RDH12, KLHL7, NRL, RGR, GUCA1B, PRPF6, CRX , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
3 %
X-linked Retinitis Pigmentosa (XLRP) via the RPGR (includes ORF15) Gene.

By PreventionGenetics PreventionGenetics in United States.

RPGR
Specificity
100 %
Genes
3 %
X-linked Retinitis Pigmentosa (XLRP) (includes RPGR ORF15) and Choroideremia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

OFD1, RP2, RPGR, CHM
Specificity
50 %
Genes
5 %
Retinitis Pigmentosa (includes RPGR ORF15) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PLA2G5, KIAA1549, ADGRA3, ARL2BP, SLC7A14, EMC1, OFD1, ROM1, RBP3, PRPF3, NR2E3, MAK, CLN3, RP2, PRPF8, PRPF31, CA4, PITPNM3, EYS, LCA5 , (...)

View the complete list with 60 more genes
Specificity
3 %
Genes
5 %
Primary Ciliary Dyskinesia (PCD)/Immotile Cilia Syndrome and Cystic Fibrosis Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PIH1D3, AK7, DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, DRC1, ZMYND10 , (...)

View the complete list with 20 more genes
Specificity
93 %
Genes
93 %
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ACBD5, OR2W3, CFAP57, CEP250, SLC4A7, REEP6, NXNL1, MIR204, IFT81, PRDM13, IFT88, CAPN5, HMX1, ADAMTS18, RDH11, TUB, PCYT1A, RGS9BP, PLA2G5, VCAN , (...)

View the complete list with 285 more genes
Specificity
1 %
Genes
5 %
Ciliopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ANKS6, CEP83, ZNF423, CEP164, CSPP1, PDE6D, KIF14, TCTN3, CFAP53, B9D2, ACVR2B, LEFTY2, ARL13B, GLIS2, CPLANE1, CEP41, GDF1, KIF7, NEK8, RPGRIP1L , (...)

View the complete list with 73 more genes
Specificity
33 %
Genes
75 %
Primary Ciliary Dyskinesia Panel.

By CeGaT GmbH in Germany.

HYDIN, DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, DRC1, ZMYND10, ARMC4 , (...)

View the complete list with 14 more genes
Specificity
98 %
Genes
83 %
X-Linked Retinitis Pigmentosa (includes RPGR ORF15).

By Asper Biogene Asper Biogene LLC in Estonia.

OFD1, RP2, RPGR
Specificity
67 %
Genes
5 %
Cone-Rod Dystrophy.

By Asper Biogene Asper Biogene LLC in Estonia.

CNNM4, PDE6H, RAX2, RAB28, UNC119, RDH5, PITPNM3, GUCA1A, RIMS1, CERKL, SEMA4A, KCNV2, CABP4, CACNA2D4, ADAM9, PDE6C, CDHR1, GNAT2, C8orf37, CRX , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
3 %
Eye diseases comprehensive panel.

By Asper Biogene Asper Biogene LLC in Estonia.

ZNF644, YAP1, JAM3, HMX1, ADAMTS18, SMOC1, CRYGS, HSF4, VIM, EPHA2, CRYGB, CRYGC, CRYBB2, MIP, CRYBA1, BFSP2, CHMP4B, CRYGD, RGS9BP, PLA2G5 , (...)

View the complete list with 255 more genes
Specificity
1 %
Genes
5 %
Retinal Dystrophy Panel.

By Molecular Vision Laboratory in United States.

CKAP4, DGKQ, RHEX, ACBD5, OR2W3, CEP250, SLC4A7, MIR204, IFT81, HMX1, ADAMTS18, RDH11, TUB, RGS9BP, PLA2G5, VCAN, PEX11B, KIAA1549, ADGRA3, TRNT1 , (...)

View the complete list with 267 more genes
Specificity
1 %
Genes
5 %
Cone Rod Dystrophy panel.

By Molecular Vision Laboratory in United States.

CNNM4, PDE6H, RAX2, RAB28, TTLL5, POC1B, ATF6, CFAP410, UNC119, RDH5, CNGA3, PITPNM3, GUCA1A, RIMS1, CERKL, SEMA4A, KCNV2, CACNA2D4, ADAM9, PDE6C , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
3 %
MVL Vision Panel.

By Molecular Vision Laboratory in United States.

CKAP4, DGKQ, RHEX, OR2W3, CEP250, SLC4A7, MIR204, IFT81, HMX1, RDH11, TUB, RGS9BP, PLA2G5, VCAN, PEX11B, KIAA1549, ADGRA3, TRNT1, ITM2B, RTN4IP1 , (...)

View the complete list with 248 more genes
Specificity
1 %
Genes
5 %
Retinitis pigmentosa 3.

By Praxis fuer Humangenetik Wien in Austria.

RPGR
Specificity
100 %
Genes
3 %
qCarrier Plus.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

MPP3, FTCD, ADK, CTH, HAL, HGD, WNT10A, SLC6A19, TPO, SLC5A5, DUOX2, DUOXA2, PAX8, HJV, HOGA1, TFR2, COL7A1, SLC39A4, ARL13B, FANCA , (...)

View the complete list with 280 more genes
Specificity
1 %
Genes
5 %
Retinitis pigmentosa 3.

By MedGene in Slovakia.

RPGR
Specificity
100 %
Genes
3 %
Invitae Congenital Heart Defects and Heterotaxy Panel.

By Invitae in United States.

MEIS2, NKX2-6, NR2F2, MED13L, ANKS6, ZNF423, NOTCH2, CFAP53, ACVR2B, LEFTY2, GATA4, GDF1, NEK8, ZIC3, GJA1, TBX5, NKX2-5, ACTC1, DNAI1, DNAH5 , (...)

View the complete list with 62 more genes
Specificity
42 %
Genes
85 %
RETINITIS PIGMENTOSA.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

GNPTG, ROM1, RBP3, PRPF3, NR2E3, MAK, RP9, BBS1, RP2, PRPF8, PRPF31, CA4, EYS, FSCN2, CERKL, FLVCR1, TOPORS, SEMA4A, SNRNP200, PRCD , (...)

View the complete list with 37 more genes
Specificity
2 %
Genes
3 %
Cone rod dystrophy.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

RGS9BP, CNNM4, PDE6H, RAX2, UNC119, RDH5, PITPNM3, GUCA1A, RIMS1, CERKL, RGS9, SEMA4A, KCNV2, CABP4, CACNA2D4, ADAM9, PDE6C, CDHR1, C8orf37, CRX , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
3 %
Eye Disorders: Comprehensive Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SMOC1, RGS9BP, PLA2G5, VCAN, FRAS1, FREM2, GRIP1, ZNF423, TCTN3, B3GLCT, BMP4, VSX2, FREM1, VAX1, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1 , (...)

View the complete list with 190 more genes
Specificity
1 %
Genes
5 %
Macular Dystrophy / Degeneration / Stargardt Disease: Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RBP4, CDH3, EFEMP1, TIMP3, FSCN2, RDH12, GUCA1B, PROM1, RPGR, RPGRIP1, PRPH2, CNGB3, ABCA4, ELOVL4, BEST1
Specificity
7 %
Genes
3 %
Retinitis Pigmentosa: Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RBP4, OFD1, ROM1, RBP3, PRPF3, NR2E3, MAK, RP9, CLN3, BBS1, RP2, PRPF8, PRPF31, CA4, EYS, C1QTNF5, FSCN2, CERKL, FLVCR1, TOPORS , (...)

View the complete list with 44 more genes
Specificity
4 %
Genes
5 %
Achromatopsia, Cone, and Cone-rod Dystrophy: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RGS9BP, RBP4, CNNM4, PDE6H, RAX2, UNC119, RDH5, CNGA3, PITPNM3, GUCA1A, RIMS1, CERKL, RGS9, SEMA4A, KCNV2, CABP4, CACNA2D4, ADAM9, PDE6C, CDHR1 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
3 %
Eye Disorders: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SMOC1, RGS9BP, PLA2G5, VCAN, FRAS1, FREM2, GRIP1, ZNF423, TCTN3, B3GLCT, BMP4, VSX2, FREM1, VAX1, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1 , (...)

View the complete list with 187 more genes
Specificity
1 %
Genes
5 %
Ciliopathies NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

HYLS1, NEK1, DYNC2H1, B9D2, EVC2, EVC, ARL13B, GLIS2, IFT80, IFT43, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TTC21B, ZIC3, B9D1, SDCCAG8, WDPCP , (...)

View the complete list with 75 more genes
Specificity
15 %
Genes
35 %
Eye Disorders NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

RGS9BP, VCAN, VSX2, RPGRIP1L, RBP4, HMCN1, CDH3, CNNM4, RAX2, UNC119, COL11A1, COL9A1, TREX1, AHI1, TTPA, PEX1, PEX7, PEX2, MTTP, ROM1 , (...)

View the complete list with 118 more genes
Specificity
1 %
Genes
3 %
Macular Degeneration NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

CX3CR1, CST3, C2, C3, CFH, CFI, CFB, ERCC6, HMCN1, RAX2, HTRA1, EFEMP1, RLBP1, RPGR, PRPH2, CNGB3, ABCA4, ELOVL4, TLR4, FBLN5
Specificity
5 %
Genes
3 %
X-chromosome High Resolution microarray analysis.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center in United States.

SERPINA7, SAT1, SLC6A14, TBX22, COX7B, CHRDL1, VMA21, TRAPPC2, AMELX, CFP, POLA1, STS, ATP2B3, CLCN5, IGSF1, ZNF674, MAMLD1, ARSE, CCNQ, EDA , (...)

View the complete list with 140 more genes
Specificity
2 %
Genes
5 %
Retinal Dystrophy Panel.

By Blueprint Genetics in Finland.

ARMC9, REEP6, IFT81, PRDM13, CAPN5, HMX1, ADAMTS18, RDH11, TUB, PCYT1A, RGS9BP, PLA2G5, ATOH7, VCAN, PEX11B, CEP78, SAMD11, ARHGEF18, CWC27, RTN4IP1 , (...)

View the complete list with 240 more genes
Specificity
1 %
Genes
5 %
Macular Dystrophy Panel.

By Blueprint Genetics in Finland.

PRDM13, CDH3, IMPG1, DRAM2, CTNNA1, RAX2, MFSD8, EFEMP1, RDH5, TIMP3, C1QTNF5, CERKL, RDH12, IMPG2, RP1L1, RS1, CRB1, CRX, PROM1, RLBP1 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
3 %
Cone Rod Dystrophy Panel.

By Blueprint Genetics in Finland.

ADAMTS18, RGS9BP, CEP78, ARHGEF18, CNNM4, PDE6H, RAX2, RAB28, TTLL5, POC1B, CFAP410, RDH5, CLN3, CYP4V2, CNGA3, PITPNM3, GUCA1A, RIMS1, CERKL, RGS9 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
3 %
Retinitis Pigmentosa Panel.

By Blueprint Genetics in Finland.

REEP6, TUB, PLA2G5, SAMD11, ARHGEF18, CWC27, ADIPOR1, ARL2BP, NEK2, SLC7A14, KIZ, PRPF4, WDR19, ZNF408, AGBL5, RBP4, SPP2, DHX38, CTNNA1, IFT140 , (...)

View the complete list with 90 more genes
Specificity
2 %
Genes
5 %
X-linked Retinitis pigmentosa.

By Bioarray in Spain.

RPGR
Specificity
100 %
Genes
3 %
RETINITIS PIGMENTOSA (X-LINKED).

By Laboratorio de Genetica Clinica SL in Spain.

RP2, RPGR
Specificity
50 %
Genes
3 %
Retinitis Pigmentosa, Sequencing RPGR Gene.

By Reference Laboratory Genetics in Spain.

RPGR
Specificity
100 %
Genes
3 %
Autosomal Recessive and Sporadic Retinitis Pigmentosa, Panel Massive Sequencing (NGS) 41 Genes.

By Reference Laboratory Genetics in Spain.

GNPTG, RBP3, NR2E3, MAK, BBS1, RP2, EYS, CERKL, FLVCR1, PRCD, RDH12, LRAT, PCARE, IMPG2, PDE6G, NRL, CNGA1, FAM161A, CNGB1, RGR , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
3 %
RPGR Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

RPGR
Specificity
100 %
Genes
3 %
RPGR Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

RPGR
Specificity
100 %
Genes
3 %
RPGR Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

RPGR
Specificity
100 %
Genes
3 %
Macular Degeneration Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

CHST6, HMCN1, CDH3, IMPG1, DRAM2, CTNNA1, RAX2, MFSD8, EFEMP1, TIMP3, C1QTNF5, FSCN2, IMPG2, RP1L1, GUCA1B, PROM1, RPGR, PRPH2, CNGB3, OTX2 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
3 %
Comprehensive Pulmonary Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

SFTPA1, SFTPA2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, SFTPC, ABCA3, NKX2-1, DNAH11, KCNA5, DNAI2, DNAAF2, RSPH4A, RSPH9, LTBP4, DNAAF1, MUC5B, CCDC40 , (...)

View the complete list with 73 more genes
Specificity
39 %
Genes
90 %
Retinitis Pigmentosa Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

ARL2BP, NEK2, SLC7A14, KIZ, PRPF4, WDR19, ZNF408, EMC1, AGBL5, RBP4, ARL3, SPP2, DHX38, IFT140, MVK, OFD1, POMGNT1, ROM1, PRPF3, NR2E3 , (...)

View the complete list with 72 more genes
Specificity
3 %
Genes
5 %
RPGR.

By Institute for Human Genetics University Clinic Freiburg in Germany.

RPGR
Specificity
100 %
Genes
3 %
PCDNext.

By Ambry Genetics in United States.

DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, ARMC4, SPAG1, OFD1, CFTR, CCDC39 , (...)

View the complete list with 1 more genes
Specificity
96 %
Genes
50 %
RPGR mutation analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

RPGR
Specificity
100 %
Genes
3 %
RPGR. Sequencing of the exon ORF15.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

RPGR
Specificity
100 %
Genes
3 %
Primary Ciliary Dyskinesia Seq Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

HYDIN, DNAH6, DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, DRC1, ZMYND10 , (...)

View the complete list with 17 more genes
Specificity
92 %
Genes
85 %
Comprehensive Pulmonary-Vascular Seq Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

HYDIN, DNAH6, COPA, EIF2AK4, NOTCH2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, ABCA3, NKX2-1, DNAH11, KCNA5, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40 , (...)

View the complete list with 45 more genes
Specificity
53 %
Genes
85 %
Cone-rod dystrophy (NGS panel of 36 genes).

By CGC Genetics in Portugal.

PCYT1A, RGS9BP, CNNM4, PDE6H, RAX2, RAB28, TTLL5, POC1B, UNC119, RDH5, CNGA3, PITPNM3, GUCA1A, RIMS1, CERKL, RGS9, SEMA4A, KCNV2, CABP4, CACNA2D4 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
3 %
Stargardt disease and macular distrophy (NGS panel for 14 genes).

By CGC Genetics in Portugal.

CDH3, IMPG1, TIMP3, C1QTNF5, FSCN2, RDH12, RP1L1, PROM1, RPGR, PRPH2, CNGB3, ABCA4, ELOVL4, BEST1
Specificity
8 %
Genes
3 %
Primary Ciliary Dyskinesia (PCD) via the RPGR Gene.

By PreventionGenetics PreventionGenetics in United States.

RPGR
Specificity
100 %
Genes
3 %
Stargardt Disease (STGD) and Macular Dystrophies Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CDH3, RBP3, EFEMP1, TIMP3, C1QTNF5, FSCN2, CERKL, RDH12, IMPG2, RP1L1, RS1, GUCA1B, CRB1, PROM1, RLBP1, RPGR, RPGRIP1, PRPH2, CNGB3, ABCA4 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
3 %
Cone-Rod Dystrophy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

RGS9BP, DRAM2, CNNM4, PDE6H, RAX2, RAB28, TTLL5, POC1B, CFAP410, UNC119, RDH5, PITPNM3, GUCA1A, RIMS1, CERKL, RGS9, SEMA4A, KCNV2, CABP4, CACNA2D4 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
3 %
Primary Ciliary Dyskinesia (PCD)/Immotile Cilia Syndrome Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PIH1D3, AK7, DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, DRC1, ZMYND10 , (...)

View the complete list with 19 more genes
Specificity
95 %
Genes
93 %
Specialized Testing of the Mutational Hotspot RPGR (isoform C) ORF15 Region.

By PreventionGenetics PreventionGenetics in United States.

RPGR
Specificity
100 %
Genes
3 %
Retinitis pigmentosa type 3 X-linked.

By Centogene AG - the Rare Disease Company in Germany.

RPGR
Specificity
100 %
Genes
3 %
X-linked retinitis pigmentosa.

By Genomic Diagnostics Laboratory Central Manchester NHS Foundation Trust in United Kingdom.

RPGR
Specificity
100 %
Genes
3 %
Retinitis pigmentosa, autosomal dominant and X-linked Panel.

By CeGaT GmbH in Germany.

PRPF4, ARL3, SPP2, ROM1, PRPF3, NR2E3, RP9, HK1, RP2, PRPF8, PRPF31, CA4, FSCN2, TOPORS, SEMA4A, SNRNP200, RDH12, KLHL7, NRL, RGR , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
3 %
Retinitis pigmentosa, autosomal recessive and X-linked Panel.

By CeGaT GmbH in Germany.

RDH11, TUB, KIAA1549, ADGRA3, IFT172, ARL2BP, NEK2, SLC7A14, KIZ, ZNF408, EMC1, RBP4, DHX38, GNPTG, NMNAT1, RBP3, NR2E3, MAK, BBS2, BBS1 , (...)

View the complete list with 42 more genes
Specificity
2 %
Genes
3 %
Cone Rod Dystrophies Panel.

By CeGaT GmbH in Germany.

ACBD5, PCYT1A, RGS9BP, CNNM4, PDE6H, RAX2, RAB28, TTLL5, POC1B, CFAP410, RDH5, CYP4V2, CNGA3, PITPNM3, GUCA1A, RIMS1, CERKL, RGS9, SEMA4A, KCNV2 , (...)

View the complete list with 20 more genes
Specificity
3 %
Genes
3 %
Stargardt Disease and Macular Dystrophies Panel.

By CeGaT GmbH in Germany.

CDH3, IMPG1, DRAM2, CTNNA1, TTLL5, MFSD8, TIMP3, CLN3, C1QTNF5, FSCN2, RDH12, IMPG2, RP1L1, CRB1, CRX, PROM1, RPGR, PRPH2, CNGB3, ABCA4 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
3 %
Single gene testing RPGR.

By CeGaT GmbH in Germany.

RPGR
Specificity
100 %
Genes
3 %
Autosomal Recessive Retinitis Pigmentosa.

By Asper Biogene Asper Biogene LLC in Estonia.

ROM1, RBP3, PRPF3, NR2E3, MAK, RP9, CNGA3, RP2, PRPF8, PRPF31, CA4, EYS, FSCN2, CERKL, TOPORS, SEMA4A, PRCD, RDH12, LRAT, GRK1 , (...)

View the complete list with 36 more genes
Specificity
2 %
Genes
3 %
X-Linked RP Panel.

By Molecular Vision Laboratory in United States.

OFD1, RP2, RS1, RPGR, CHM
Specificity
40 %
Genes
5 %
VECMD.

By VECMD VECMD in Mexico.

RPGR
Specificity
100 %
Genes
3 %
RPGR.

By Division Human Genetics Medical University Innsbruck in Austria.

RPGR
Specificity
100 %
Genes
3 %
Invitae Primary Ciliary Dyskinesia Panel.

By Invitae in United States.

DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, DRC1, ZMYND10, ARMC4, RSPH1 , (...)

View the complete list with 14 more genes
Specificity
100 %
Genes
85 %
Invitae Ciliopathies Panel.

By Invitae in United States.

WDR34, WDR60, NEK1, DYNC2H1, ANKS6, CEP83, ZNF423, CEP164, CSPP1, PDE6D, CEP120, CEP104, IFT172, TCTN3, B9D2, IFT122, EVC2, EVC, ARL13B, GLIS2 , (...)

View the complete list with 82 more genes
Specificity
34 %
Genes
85 %
Cone-Rod dystrophy type 1: RPGR gene sequence analysis (exons 1-15 and ORF15).

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

RPGR
Specificity
100 %
Genes
3 %
RETINITIS PIGMENTOSA A.R..

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

GNPTG, RBP3, NR2E3, MAK, BBS1, RP2, EYS, CERKL, FLVCR1, PRCD, RDH12, LRAT, PCARE, IMPG2, PDE6G, NRL, CNGA1, FAM161A, CNGB1, RGR , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
3 %
STARGARDT SYNDROME.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

CDH3, TIMP3, C1QTNF5, FSCN2, RDH12, RP1L1, PROM1, RPGR, PRPH2, CNGB3, ABCA4, ELOVL4, BEST1
Specificity
8 %
Genes
3 %
RETINITIS PIGMENTOSA A.D.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

ROM1, PRPF3, NR2E3, RP9, RP2, PRPF8, PRPF31, CA4, FSCN2, TOPORS, SEMA4A, SNRNP200, RDH12, KLHL7, NRL, RGR, GUCA1B, PRPF6, CRX, IMPDH1 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
3 %
RPGR-Related X-Linked Retinitis Pigmentosa: RPGR Full Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RPGR
Specificity
100 %
Genes
3 %
RPGR-Related X-Linked Retinitis Pigmentosa: RPGR Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RPGR
Specificity
100 %
Genes
3 %
Achromatopsia, Cone, and Cone-rod Dystrophy: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RGS9BP, RBP4, CNNM4, PDE6H, RAX2, UNC119, RDH5, CNGA3, PITPNM3, GUCA1A, RIMS1, CERKL, RGS9, SEMA4A, KCNV2, CABP4, CACNA2D4, ADAM9, PDE6C, CDHR1 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
3 %
Ciliopathies: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

HYLS1, NEK1, DYNC2H1, ZNF423, CEP164, B9D2, ACVR2B, CRELD1, LEFTY2, EVC2, EVC, ARL13B, GLIS2, IFT80, CPLANE1, CEP41, GDF1, IFT43, KIF7, NEK8 , (...)

View the complete list with 92 more genes
Specificity
14 %
Genes
38 %
Retina/Photoreceptor Dystrophy: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

C8orf37-AS1, RGS9BP, PLA2G5, VCAN, CDH15, RBP4, GPR179, LRIT3, CNNM4, PDE6H, RAX2, UNC119, COL11A2, COL11A1, COL9A2, COL9A1, OFD1, ROM1, RBP3, PRPF3 , (...)

View the complete list with 100 more genes
Specificity
2 %
Genes
5 %
Ciliopathies: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

HYLS1, NEK1, DYNC2H1, B9D2, EVC2, EVC, ARL13B, GLIS2, IFT80, IFT43, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TTC21B, ZIC3, B9D1, SDCCAG8, WDPCP , (...)

View the complete list with 76 more genes
Specificity
15 %
Genes
35 %
Retinitis Pigmentosa NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

RPGRIP1L, GNPTG, PEX26, PEX1, PEX7, PEX2, ROM1, RBP3, PRPF3, NR2E3, MAK, RP9, BBS2, BBS1, BBS4, BBS10, BBS9, BBS12, BBS5, BBS7 , (...)

View the complete list with 68 more genes
Specificity
2 %
Genes
3 %
RPGR.

By Fulgent Genetics Fulgent Genetics in United States.

RPGR
Specificity
100 %
Genes
3 %
Primary Ciliary Dyskinesia Panel.

By Blueprint Genetics in Finland.

PIH1D3, HYDIN, DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, DRC1, ZMYND10 , (...)

View the complete list with 16 more genes
Specificity
92 %
Genes
83 %
Cone Rod Distrophy Type 1 , Sequencing RPGR Gene.

By Reference Laboratory Genetics in Spain.

RPGR
Specificity
100 %
Genes
3 %
Cone-Rod Dystrophy Type 1, Sequencing Exons (1-19) and ORF15 RPGR Gene.

By Reference Laboratory Genetics in Spain.

RPGR
Specificity
100 %
Genes
3 %
Autosomal Dominant Retinitis Pigmentosa, Panel Massive Sequencing (NGS) 27 Genes.

By Reference Laboratory Genetics in Spain.

ROM1, PRPF3, NR2E3, RP9, RP2, PRPF8, PRPF31, CA4, FSCN2, TOPORS, SEMA4A, SNRNP200, RDH12, KLHL7, NRL, RGR, GUCA1B, PRPF6, CRX, IMPDH1 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
3 %
Cone Rod Distrophy , Panel Massive Sequencing (NGS) 30 Genes.

By Reference Laboratory Genetics in Spain.

RGS9BP, CNNM4, PDE6H, RAX2, UNC119, RDH5, PITPNM3, GUCA1A, RIMS1, CERKL, RGS9, SEMA4A, KCNV2, CABP4, CACNA2D4, ADAM9, PDE6C, CDHR1, C8orf37, CRX , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
3 %
Retinitis Pigmentosa (Complet Panel) , Panel Massive Sequencing (NGS) 57 Genes.

By Reference Laboratory Genetics in Spain.

GNPTG, ROM1, RBP3, PRPF3, NR2E3, MAK, RP9, BBS1, RP2, PRPF8, PRPF31, CA4, EYS, FSCN2, CERKL, FLVCR1, TOPORS, SEMA4A, SNRNP200, PRCD , (...)

View the complete list with 37 more genes
Specificity
2 %
Genes
3 %
Ciliopathies (NGS panel for 90 genes).

By CGC Genetics in Portugal.

EXOC8, HYDIN, ANKS6, CEP83, ZNF423, CEP164, CSPP1, PDE6D, TCTN3, B9D2, ARL13B, GLIS2, CPLANE1, CEP41, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TMEM138 , (...)

View the complete list with 70 more genes
Specificity
32 %
Genes
70 %
Primary ciliary dyskinesia (NGS panel for 27 genes).

By CGC Genetics in Portugal.

HYDIN, DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, DRC1, ZMYND10, ARMC4 , (...)

View the complete list with 7 more genes
Specificity
100 %
Genes
68 %
Heterotaxy, Situs Inversus and Kartagener's Syndrome Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

MMP21, PIH1D3, AK7, ANKS6, CFAP53, ACVR2B, LEFTY2, GDF1, ZIC3, NKX2-5, DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, DNAAF1, CCDC40, DNAL1, DNAAF3 , (...)

View the complete list with 16 more genes
Specificity
67 %
Genes
60 %
Primary ciliary dyskinesia type 10.

By Centogene AG - the Rare Disease Company in Germany.

DNAAF2
Specificity
100 %
Genes
3 %
Comprehensive pulmonary disease panel.

By Centogene AG - the Rare Disease Company in Germany.

GDNF, ASCL1, BDNF, NOP10, SFTPA1, SFTPA2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, SFTPC, ABCA3, NKX2-1, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, LTBP4 , (...)

View the complete list with 46 more genes
Specificity
20 %
Genes
33 %
Bronchiectasis: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, SCNN1B, SCNN1G, SCNN1A, CFTR, CCDC39
Specificity
75 %
Genes
30 %
Pulmonary Disease: Comprehensive Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

GDNF, ASCL1, BDNF, DNAI1, SFTPB, BMPR2, DNAH5, NME8, SFTPC, ABCA3, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, LTBP4, DNAAF1, MUC5B, CCDC40, DNAL1 , (...)

View the complete list with 33 more genes
Specificity
23 %
Genes
30 %
Bronchiectasis: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, SCNN1B, SCNN1G, SCNN1A, CFTR, CCDC39
Specificity
75 %
Genes
30 %
Complement System Disorder Panel.

By Blueprint Genetics in Finland.

PTX3, ADIPOR2, VTN, VSIG4, C5AR1, C5AR2, C1QBP, C3AR1, CRP, FCN1, FCN2, CD93, CD55, ADIPOQ, C4BPB, MASP2, C8G, C8A, C8B, C6 , (...)

View the complete list with 55 more genes
Specificity
36 %
Genes
68 %
Primary Ciliary Dyskinesia: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HYDIN, DNAI1, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, DRC1, ZMYND10, ARMC4, RSPH1 , (...)

View the complete list with 11 more genes
Specificity
100 %
Genes
78 %
Bronchiectasis Panel (17 Genes).

By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States.

DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, RSPH1, SCNN1B, SCNN1G, SCNN1A, CFTR, CCDC39
Specificity
77 %
Genes
33 %
Primary Ciliary Dyskinesia (PCD) via the DNAAF2 Gene.

By PreventionGenetics PreventionGenetics in United States.

DNAAF2
Specificity
100 %
Genes
3 %
Pulmonary diseases - panels.

By MGZ Medical Genetics Center in Germany.

TBX4, DVL1, COL4A2, EIF2AK4, NOTCH2, DNAI1, BMPR2, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, DNAAF3, SMAD9, CAV1, KCNK3, DNAAF4 , (...)

View the complete list with 11 more genes
Specificity
39 %
Genes
30 %
Primary Ciliary Dyskinesia 10: DNAAF2-Related Primary Ciliary Dyskinesia.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

DNAAF2
Specificity
100 %
Genes
3 %
Bronchiectasis NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, SCNN1B, SCNN1G, SCNN1A, CFTR, CCDC39
Specificity
75 %
Genes
30 %
Lung Disorders NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

GDNF, ASCL1, BDNF, SFTPA1, SFTPA2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, SFTPC, ABCA3, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, LTBP4, DNAAF1, MUC5B , (...)

View the complete list with 31 more genes
Specificity
24 %
Genes
30 %
Kartagener's Syndrome or Heterotaxy with Chronic Respiratory Infections NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC39
Specificity
100 %
Genes
28 %
Heterotaxy and Situs Inversus NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

CFC1, ACVR2B, LEFTY2, GDF1, ZIC3, NKX2-5, DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, DNAAF1, CCDC40, DNAL1, DNAAF3, FOXH1, NODAL, CCDC39, INVS
Specificity
56 %
Genes
28 %
DNAAF2.

By Fulgent Genetics Fulgent Genetics in United States.

DNAAF2
Specificity
100 %
Genes
3 %
Comprehensive Pulmonology Panel.

By Blueprint Genetics in Finland.

SLC34A2, PIH1D3, SLC6A5, GLRA1, ITGA3, SFTPA1, SFTPA2, DNAI1, SFTPB, DNAH5, NME8, SFTPC, ABCA3, NKX2-1, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, LTBP4 , (...)

View the complete list with 46 more genes
Specificity
25 %
Genes
40 %
Bronchiectasis Panel.

By Blueprint Genetics in Finland.

DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, SCNN1B, SCNN1A, CFTR, CCDC39
Specificity
80 %
Genes
30 %
Heterotaxy and Situs Inversus Panel.

By Blueprint Genetics in Finland.

PKD1L1, MMP21, PIH1D3, ANKS6, ACVR2B, LEFTY2, GDF1, ZIC3, DNAI1, DNAH5, DNAH11, DNAI2, DNAAF2, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC103, DNAAF5, LRRC6 , (...)

View the complete list with 12 more genes
Specificity
69 %
Genes
56 %
Ciliary dyskinesia, primary 11 (sequence analysis of RSPH4A gene).

By CGC Genetics in Portugal.

RSPH4A
Specificity
100 %
Genes
3 %
Primary ciliary dyskinesia type 11.

By Centogene AG - the Rare Disease Company in Germany.

RSPH4A
Specificity
100 %
Genes
3 %
PRIMARY CILIARY DYSKINESIA.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

HYDIN, DNAI1, DNAH5, NME8, DNAH11, DNAI2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, CCDC39
Specificity
100 %
Genes
43 %
RSPH4A.

By Fulgent Genetics Fulgent Genetics in United States.

RSPH4A
Specificity
100 %
Genes
3 %
Primary Ciliary Dyskinesia , Panel Massive Sequencing (NGS) 17 Genes.

By Reference Laboratory Genetics in Spain.

HYDIN, DNAI1, DNAH5, NME8, DNAH11, DNAI2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, CCDC39
Specificity
100 %
Genes
43 %
Primary Ciliary Dyskinesia (PCD) via RSPH4A Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

RSPH4A
Specificity
100 %
Genes
3 %
Primary Ciliary Dyskinesia 11: RSPH4A-Related Primary Ciliary Dyskinesia.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

RSPH4A
Specificity
100 %
Genes
3 %
Primary ciliary dyskinesia 12 (sequence analysis of RSPH9 gene).

By CGC Genetics in Portugal.

RSPH9
Specificity
100 %
Genes
3 %
Primary Ciliary Dyskinesia (PCD) via RSPH9 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

RSPH9
Specificity
100 %
Genes
3 %
Nuclear-Mito NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

CNR1, CHDH, CLYBL, NIPSNAP3A, IDE, IMMT, LETM1, MAVS, RAB11FIP5, POLRMT, PTGES2, PPARGC1A, AS3MT, ACSM3, ACSL5, DMAC2, ATP10D, NDUFB1, HK2, ECI1 , (...)

View the complete list with 484 more genes
Specificity
1 %
Genes
3 %
Primary ciliary dyskinesia.

By Bioarray in Spain.

RSPH9
Specificity
100 %
Genes
3 %
Primary Ciliary Dyskinesia Type 12, Sequencing RSPH9 Gene.

By Reference Laboratory Genetics in Spain.

RSPH9
Specificity
100 %
Genes
3 %
RSPH9. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

RSPH9
Specificity
100 %
Genes
3 %
Primary ciliary dyskinesia (p.Lys268del mutation on RSPH9 gene).

By CGC Genetics in Portugal.

RSPH9
Specificity
100 %
Genes
3 %
Primary ciliary dyskinesia type 12.

By Centogene AG - the Rare Disease Company in Germany.

RSPH9
Specificity
100 %
Genes
3 %
Primary Ciliary Dyskinesia 12: RSPH9-Related Primary Ciliary Dyskinesia.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

RSPH9
Specificity
100 %
Genes
3 %
RSPH9.

By Fulgent Genetics Fulgent Genetics in United States.

RSPH9
Specificity
100 %
Genes
3 %
Ciliary dyskinesia, primary 13 (sequence analysis of DNAAF1 gene).

By CGC Genetics in Portugal.

DNAAF1
Specificity
100 %
Genes
3 %
Primary Ciliary Dyskinesia (PCD) via the DNAAF1 / LRRC50 Gene.

By PreventionGenetics PreventionGenetics in United States.

DNAAF1
Specificity
100 %
Genes
3 %
Primary ciliary dyskinesia type 13.

By Centogene AG - the Rare Disease Company in Germany.

DNAAF1
Specificity
100 %
Genes
3 %
DNAAF1.

By Fulgent Genetics Fulgent Genetics in United States.

DNAAF1
Specificity
100 %
Genes
3 %
PRIMARY CILIARY DYSKINESIA (KARTAGENER SYNDROME).

By Laboratorio de Genetica Clinica SL in Spain.

DNAI1, DNAH5, DNAH11, DNAI2, DNAAF1, CCDC40, LRRC6, CCDC39
Specificity
100 %
Genes
20 %
Ciliary dyskinesia, primary 15 (sequence analysis of CCDC40 gene).

By CGC Genetics in Portugal.

CCDC40
Specificity
100 %
Genes
3 %
Primary Ciliary Dyskinesia (PCD) via the CCDC40 Gene.

By PreventionGenetics PreventionGenetics in United States.

CCDC40
Specificity
100 %
Genes
3 %
CCDC40.

By Fulgent Genetics Fulgent Genetics in United States.

CCDC40
Specificity
100 %
Genes
3 %
Primary ciliary dyskinesia type 15.

By Centogene AG - the Rare Disease Company in Germany.

CCDC40
Specificity
100 %
Genes
3 %
Primary Ciliary Dyskinesia 15: CCDC40-Related Primary Ciliary Dyskinesia.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

CCDC40
Specificity
100 %
Genes
3 %
Ciliary dyskinesia, primary 16 (sequence analysis of DNAL1 gene).

By CGC Genetics in Portugal.

DNAL1
Specificity
100 %
Genes
3 %
Primary Ciliary Dyskinesia (PCD) via DNAL1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

DNAL1
Specificity
100 %
Genes
3 %
DNAL1.

By Fulgent Genetics Fulgent Genetics in United States.

DNAL1
Specificity
100 %
Genes
3 %
Primary ciliary dyskinesia type 16.

By Centogene AG - the Rare Disease Company in Germany.

DNAL1
Specificity
100 %
Genes
3 %
Ciliary dyskinesia, primary 17 (sequence analysis of CCDC103 gene).

By CGC Genetics in Portugal.

CCDC103
Specificity
100 %
Genes
3 %
Primary Ciliary Dyskinesia (PCD) via the CCDC103 Gene.

By PreventionGenetics PreventionGenetics in United States.

CCDC103
Specificity
100 %
Genes
3 %
Primary ciliary dyskinesia type 17.

By Centogene AG - the Rare Disease Company in Germany.

CCDC103
Specificity
100 %
Genes
3 %
CCDC103.

By Fulgent Genetics Fulgent Genetics in United States.

CCDC103
Specificity
100 %
Genes
3 %
Primary ciliary dyskinesia type 19.

By Centogene AG - the Rare Disease Company in Germany.

LRRC6
Specificity
100 %
Genes
3 %
Ciliary dyskinesia, primary 19 (sequence analysis of LRRC6 gene).

By CGC Genetics in Portugal.

LRRC6
Specificity
100 %
Genes
3 %
Primary Ciliary Dyskinesia (PCD) via the LRRC6 Gene.

By PreventionGenetics PreventionGenetics in United States.

LRRC6
Specificity
100 %
Genes
3 %
Single gene testing LRRC6.

By CeGaT GmbH in Germany.

LRRC6
Specificity
100 %
Genes
3 %
LRRC6.

By Fulgent Genetics Fulgent Genetics in United States.

LRRC6
Specificity
100 %
Genes
3 %
POLR2K.

By Fulgent Genetics Fulgent Genetics in United States.

POLR2K
Specificity
100 %
Genes
3 %
CCDC151.

By Fulgent Genetics Fulgent Genetics in United States.

CCDC151
Specificity
100 %
Genes
3 %
Primary Ciliary Dyskinesia (PCD) via CCDC151 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CCDC151
Specificity
100 %
Genes
3 %
CCNO.

By MGZ Medical Genetics Center in Germany.

CCNO
Specificity
100 %
Genes
3 %
Primary Ciliary Dyskinesia (PCD) via CCNO Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CCNO
Specificity
100 %
Genes
3 %
Primary ciliary dyskinesia type 29.

By Centogene AG - the Rare Disease Company in Germany.

CCNO
Specificity
100 %
Genes
3 %
CCNO.

By Fulgent Genetics Fulgent Genetics in United States.

CCNO
Specificity
100 %
Genes
3 %
ZMYND10.

By Fulgent Genetics Fulgent Genetics in United States.

ZMYND10
Specificity
100 %
Genes
3 %
Primary Ciliary Dyskinesia (PCD) via ZMYND10 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ZMYND10
Specificity
100 %
Genes
3 %
Ciliary dyskinesia, primary 20 (sequence analysis of CCDC114 gene).

By CGC Genetics in Portugal.

CCDC114
Specificity
100 %
Genes
3 %
Primary Ciliary Dyskinesia (PCD) via the CCDC114 Gene.

By PreventionGenetics PreventionGenetics in United States.

CCDC114
Specificity
100 %
Genes
3 %
Primary ciliary dyskinesia type 20.

By Centogene AG - the Rare Disease Company in Germany.

CCDC114
Specificity
100 %
Genes
3 %
CCDC114.

By Fulgent Genetics Fulgent Genetics in United States.

CCDC114
Specificity
100 %
Genes
3 %
Male Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

GALNTL5, ZMYND15, SUN5, TEX11, SLC26A8, SEPT12, NPAS2, TAF4B, PLCZ1, KLHL10, INSL3, CFAP43, CFAP44, BRDT, CBX2, AKR1C4, DMRT2, DMRT1, SYCE1, CCDC141 , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
3 %
Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CHD4, TOE1, ATF3, BNC2, HHAT, GALNTL5, ZMYND15, SUN5, TEX11, SLC26A8, SEPT12, NPAS2, TAF4B, PLCZ1, KLHL10, INSL3, CFAP43, CFAP44, BRDT, CBX2 , (...)

View the complete list with 186 more genes
Specificity
1 %
Genes
3 %
Primary Ciliary Dyskinesia (PCD) via the DNAH1 Gene.

By PreventionGenetics PreventionGenetics in United States.

DNAH1
Specificity
100 %
Genes
3 %
DNAH1.

By Fulgent Genetics Fulgent Genetics in United States.

DNAH1
Specificity
100 %
Genes
3 %
RSPH3.

By Fulgent Genetics Fulgent Genetics in United States.

RSPH3
Specificity
100 %
Genes
3 %
Primary Ciliary Dyskinesia (PCD) via RSPH3 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

RSPH3
Specificity
100 %
Genes
3 %
Primary Ciliary Dyskinesia (PCD) via the DNAH8 Gene.

By PreventionGenetics PreventionGenetics in United States.

DNAH8
Specificity
100 %
Genes
3 %
DNAH8.

By Fulgent Genetics Fulgent Genetics in United States.

DNAH8
Specificity
100 %
Genes
3 %
HYDIN.

By Fulgent Genetics Fulgent Genetics in United States.

HYDIN
Specificity
100 %
Genes
3 %
Ciliary dyskinesia, primary 5 (sequence analysis of HYDIN gene).

By CGC Genetics in Portugal.

HYDIN
Specificity
100 %
Genes
3 %
Primary ciliary dyskinesia type 5.

By Centogene AG - the Rare Disease Company in Germany.

HYDIN
Specificity
100 %
Genes
3 %
Primary Ciliary Dyskinesia (PCD) via C21ORF59 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CFAP298
Specificity
100 %
Genes
3 %
Primary ciliary dyskinesia type 26.

By Centogene AG - the Rare Disease Company in Germany.

CFAP298
Specificity
100 %
Genes
3 %
C21orf59.

By Fulgent Genetics Fulgent Genetics in United States.

CFAP298
Specificity
100 %
Genes
3 %
Primary Ciliary Dyskinesia (PCD) via DNAI2 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

DNAI2
Specificity
100 %
Genes
3 %
Primary ciliary dyskinesia type 9.

By Centogene AG - the Rare Disease Company in Germany.

DNAI2
Specificity
100 %
Genes
3 %
Primary Ciliary Dyskinesia 9: DNAI2-Related Primary Ciliary Dyskinesia.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

DNAI2
Specificity
100 %
Genes
3 %
DNAI2.

By Fulgent Genetics Fulgent Genetics in United States.

DNAI2
Specificity
100 %
Genes
3 %
CarrierMap.

By Recombine in United States.

VPS53, SLC26A3, BCHE, HGD, GDF5, XPC, SLC7A9, LIFR, XPA, WRN, SEPSECS, MED17, ASNS, AMHR2, AMH, CYP19A1, HJV, HOGA1, TFR2, TTC37 , (...)

View the complete list with 281 more genes
Specificity
1 %
Genes
5 %
Ciliary dyskinesia, primary 9 (sequence analysis of DNAI2 gene).

By CGC Genetics in Portugal.

DNAI2
Specificity
100 %
Genes
3 %
Primary Ciliary Dyskinesia (PCD) via the CCDC65 Gene.

By PreventionGenetics PreventionGenetics in United States.

CCDC65
Specificity
100 %
Genes
3 %
Primary ciliary dyskinesia type 27.

By Centogene AG - the Rare Disease Company in Germany.

CCDC65
Specificity
100 %
Genes
3 %
Single gene testing CCDC65.

By CeGaT GmbH in Germany.

CCDC65
Specificity
100 %
Genes
3 %
CCDC65.

By Fulgent Genetics Fulgent Genetics in United States.

CCDC65
Specificity
100 %
Genes
3 %
Heterotaxia.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

ACVR2B, CRELD1, LEFTY2, SHROOM3, CITED2, GATA4, GDF1, ZIC3, SMAD2, NKX2-5, DNAI1, DNAH5, DNAH11, FOXH1, NODAL
Specificity
20 %
Genes
8 %
DNAH5. Sequencing of the exons 34, 50, 63, 76 and 77.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

DNAH5
Specificity
100 %
Genes
3 %
Kartagener syndrome (sequence analysis of DNAH5 gene).

By CGC Genetics in Portugal.

DNAH5
Specificity
100 %
Genes
3 %
Primary Ciliary Dyskinesia (PCD) via DNAH5 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

DNAH5
Specificity
100 %
Genes
3 %
Primary Ciliary Dyskinesia 3: DNAH5-Related Primary Ciliary Dyskinesia.

By Bioscientia GmbH Center for Human Genetics in Germany.

DNAH5
Specificity
100 %
Genes
3 %
Primary ciliary dyskinesia type 3.

By Centogene AG - the Rare Disease Company in Germany.

DNAH5
Specificity
100 %
Genes
3 %
Male Factor Infertility.

By Asper Biogene Asper Biogene LLC in Estonia.

RXFP2, XIST, DDX25, ESR2, NLRP14, PRDM9, PRM1, PRM2, PRM3, RBMXL2, TEKT2, USP26, UTP14C, INSL3, FSHB, DNAI1, DNAH5, DNAH11, GNRHR, CFTR , (...)

View the complete list with 1 more genes
Specificity
15 %
Genes
8 %
Primary ciliary dyskinesia 3.

By Praxis fuer Humangenetik Wien in Austria.

DNAH5
Specificity
100 %
Genes
3 %
Primary ciliary dyskinesia 3.

By MedGene in Slovakia.

DNAH5
Specificity
100 %
Genes
3 %
Primary ciliary dyskinesia type 3.

By Bioarray in Spain.

DNAH5
Specificity
100 %
Genes
3 %
Primary Ciliary Dyskinesia Type 3, Deletions-Duplications (MLPA) DNAH5 Gene.

By Reference Laboratory Genetics in Spain.

DNAH5
Specificity
100 %
Genes
3 %
Heterotaxy V2 Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

BCL9L, CFAP53, NAT10, CFC1, GATA6, ACVR2B, CRELD1, LEFTY2, SHROOM3, GDF1, ZIC3, GJA1, NKX2-5, DNAH5, DNAH11, FOXH1, NODAL
Specificity
12 %
Genes
5 %
DNAH5. Sequencing of the exons 13, 17, 26-28, 32-33, 36, 41, 48, 49, 53, 62 and 67.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

DNAH5
Specificity
100 %
Genes
3 %
DNAH5. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

DNAH5
Specificity
100 %
Genes
3 %
Primary ciliary dyskinesia 3 (CILD3, sequence analysis of DNAH5 gene).

By CGC Genetics in Portugal.

DNAH5
Specificity
100 %
Genes
3 %
Primary Ciliary Dyskinesia 3: DNAH5-Related Primary Ciliary Dyskinesia.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

DNAH5
Specificity
100 %
Genes
3 %
Primary ciliary Dyskinesia: DNAI1 and DNAH5 genes screening.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

DNAI1, DNAH5
Specificity
100 %
Genes
5 %
DNAH5.

By Fulgent Genetics Fulgent Genetics in United States.

DNAH5
Specificity
100 %
Genes
3 %
Primary ciliary dyskinesia type 3.

By Bioarray in Spain.

DNAH5
Specificity
100 %
Genes
3 %
Primary ciliary dyskinesia type 3.

By Bioarray in Spain.

DNAH5
Specificity
100 %
Genes
3 %
Primary Ciliary Dyskinesia Type 3, Sequencing DNAH5 Gen.

By Reference Laboratory Genetics in Spain.

DNAH5
Specificity
100 %
Genes
3 %
Primary Ciliary Dyskinesia (PCD) via the DRC1 Gene.

By PreventionGenetics PreventionGenetics in United States.

DRC1
Specificity
100 %
Genes
3 %
DRC1.

By Fulgent Genetics Fulgent Genetics in United States.

DRC1
Specificity
100 %
Genes
3 %
DNAI1. Sequencing of the exons 1, 13, 16, 17 and 18.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

DNAI1
Specificity
100 %
Genes
3 %
DNAI1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

DNAI1
Specificity
100 %
Genes
3 %
Ciliary dyskinesia, primary 1 (sequence analysis of DNAI1 gene).

By CGC Genetics in Portugal.

DNAI1
Specificity
100 %
Genes
3 %
Primary Ciliary Dyskinesia (PCD) via DNAI1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

DNAI1
Specificity
100 %
Genes
3 %
Single gene testing DNAI1.

By CeGaT GmbH in Germany.

DNAI1
Specificity
100 %
Genes
3 %
Primary Ciliary Dyskinesia 1: DNAI1-Related Primary Ciliary Dyskinesia.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

DNAI1
Specificity
100 %
Genes
3 %
Primary ciliary dyskinesia 1.

By MedGene in Slovakia.

DNAI1
Specificity
100 %
Genes
3 %
DNAI1.

By Fulgent Genetics Fulgent Genetics in United States.

DNAI1
Specificity
100 %
Genes
3 %
Primary ciliary dyskinesia type 1.

By Bioarray in Spain.

DNAI1
Specificity
100 %
Genes
3 %
Primary Ciliary Dyskinesia Type 1 , Sequencing DNAI1 Gene.

By Reference Laboratory Genetics in Spain.

DNAI1
Specificity
100 %
Genes
3 %
Hydrocephalus Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HDAC6, EML1, WDR81, MPDZ, CCDC88C, CRB2, CCND2, AKT3, PIK3R2, ZIC3, P4HB, DNAI1, FLVCR2, AP1S2, POMT1, L1CAM, PTEN
Specificity
6 %
Genes
3 %
Primary Ciliary Dyskinesia 1: DNAI1-Related Primary Ciliary Dyskinesia.

By Bioscientia GmbH Center for Human Genetics in Germany.

DNAI1
Specificity
100 %
Genes
3 %
Primary ciliary dyskinesia type 1.

By Centogene AG - the Rare Disease Company in Germany.

DNAI1
Specificity
100 %
Genes
3 %
Primary ciliary dyskinesia 1.

By Praxis fuer Humangenetik Wien in Austria.

DNAI1
Specificity
100 %
Genes
3 %
Primary ciliary dyskinesia type 23.

By Centogene AG - the Rare Disease Company in Germany.

ARMC4
Specificity
100 %
Genes
3 %
ARMC4.

By Fulgent Genetics Fulgent Genetics in United States.

ARMC4
Specificity
100 %
Genes
3 %
Primary Ciliary Dyskinesia (PCD) via the RSPH1 Gene.

By PreventionGenetics PreventionGenetics in United States.

RSPH1
Specificity
100 %
Genes
3 %
Primary ciliary dyskinesia type 24.

By Centogene AG - the Rare Disease Company in Germany.

RSPH1
Specificity
100 %
Genes
3 %
RSPH1.

By Fulgent Genetics Fulgent Genetics in United States.

RSPH1
Specificity
100 %
Genes
3 %
Single gene testing RSPH1.

By CeGaT GmbH in Germany.

RSPH1
Specificity
100 %
Genes
3 %
Primary Ciliary Dyskinesia (PCD) via the SPAG1 Gene.

By PreventionGenetics PreventionGenetics in United States.

SPAG1
Specificity
100 %
Genes
3 %
Primary ciliary dyskinesia type 28.

By Centogene AG - the Rare Disease Company in Germany.

SPAG1
Specificity
100 %
Genes
3 %
Ciliary dyskinesia, primary 2 (sequence analysis of DNAAF3 gene).

By CGC Genetics in Portugal.

DNAAF3
Specificity
100 %
Genes
3 %
Primary Ciliary Dyskinesia via the DNAAF3 Gene.

By PreventionGenetics PreventionGenetics in United States.

DNAAF3
Specificity
100 %
Genes
3 %
Primary ciliary dyskinesia type 2.

By Centogene AG - the Rare Disease Company in Germany.

DNAAF3
Specificity
100 %
Genes
3 %
DNAAF3.

By Fulgent Genetics Fulgent Genetics in United States.

DNAAF3
Specificity
100 %
Genes
3 %
TTC25.

By Fulgent Genetics Fulgent Genetics in United States.

TTC25
Specificity
100 %
Genes
3 %
Ciliary dyskinesia, primary 6 (sequence analysis of NME8 gene).

By CGC Genetics in Portugal.

NME8
Specificity
100 %
Genes
3 %
Primary Ciliary Dyskinesia (PCD) via NME8 (TXNDC3) Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

NME8
Specificity
100 %
Genes
3 %
Primary ciliary dyskinesia type 6.

By Centogene AG - the Rare Disease Company in Germany.

NME8
Specificity
100 %
Genes
3 %
Single gene testing NME8.

By CeGaT GmbH in Germany.

NME8
Specificity
100 %
Genes
3 %
NME8.

By Fulgent Genetics Fulgent Genetics in United States.

NME8
Specificity
100 %
Genes
3 %
Ciliary dyskinesia, primary 18 (sequence analysis of HEATR2 gene).

By CGC Genetics in Portugal.

DNAAF5
Specificity
100 %
Genes
3 %
Primary ciliary dyskinesia type 18.

By Centogene AG - the Rare Disease Company in Germany.

DNAAF5
Specificity
100 %
Genes
3 %
Single gene testing HEATR2.

By CeGaT GmbH in Germany.

DNAAF5
Specificity
100 %
Genes
3 %
HEATR2.

By Fulgent Genetics Fulgent Genetics in United States.

DNAAF5
Specificity
100 %
Genes
3 %
DNAAF5.

By Fulgent Genetics Fulgent Genetics in United States.

DNAAF5
Specificity
100 %
Genes
3 %
Primary Ciliary Dyskinesia (PCD) via the DNAAF5 (HEATR2) Gene.

By PreventionGenetics PreventionGenetics in United States.

DNAAF5
Specificity
100 %
Genes
3 %
Ciliary dyskinesia, primary 14 (sequence analysis of CCDC39 gene).

By CGC Genetics in Portugal.

CCDC39
Specificity
100 %
Genes
3 %
Primary Ciliary Dyskinesia (PCD) via the CCDC39 Gene.

By PreventionGenetics PreventionGenetics in United States.

CCDC39
Specificity
100 %
Genes
3 %
Primary ciliary dyskinesia type 14.

By Centogene AG - the Rare Disease Company in Germany.

CCDC39
Specificity
100 %
Genes
3 %
Primary Ciliary Dyskinesia 14: CCDC39-Related Primary Ciliary Dyskinesia.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

CCDC39
Specificity
100 %
Genes
3 %
CCDC39.

By Fulgent Genetics Fulgent Genetics in United States.

CCDC39
Specificity
100 %
Genes
3 %
Primary Ciliary Dyskinesia (PCD) via PIH1D3 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PIH1D3
Specificity
100 %
Genes
3 %
Epilepsy Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc in United States.

IQSEC2, ATRX, SMS, OFD1, SERPINI1, KIF1BP, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, PNKP, SPTAN1, PLCB1, ANKRD11, PIGV, PIGN, DYRK1A , (...)

View the complete list with 214 more genes
Specificity
1 %
Genes
3 %
Epilepsy Advanced Sequencing and CNV Evaluation - Intellectual Disability.

By Athena Diagnostics Inc in United States.

GFAP, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, DYRK1A, WDR45 , (...)

View the complete list with 36 more genes
Specificity
2 %
Genes
3 %
X-Linked Intellectual Disabilities Deletion/Duplication.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

PGK1, CNKSR2, CCDC22, FRMPD4, IL1RAPL1, NSDHL, NAA10, SOX3, SLC16A2, CLIC2, BRWD3, ZDHHC9, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, UPF3B , (...)

View the complete list with 68 more genes
Specificity
2 %
Genes
3 %
Joubert/Meckel-Gruber syndrome Panel.

By Genetic Services Laboratory University of Chicago in United States.

CSPP1, PDE6D, KIF14, TMEM107, CEP120, CEP104, KIAA0556, IFT172, TCTN3, B9D2, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
3 %
Macrocephaly Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

RIN2, HEPACAM, TBC1D7, RNF125, NFIA, HERC1, KPTN, GLI3, RNF135, EZH2, NFIX, BRWD3, UPF3B, MED12, RAB39B, CUL4B, OFD1, SETD2, GPC3, NSD1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
3 %
Non-Specific Intellectual Disability Panel.

By Genetic Services Laboratory University of Chicago in United States.

CA8, CC2D1A, CRBN, GRIK2, MAN1B1, PRSS12, TRAPPC9, ZC3H14, ZNF526, ZNF674, CDH15, SOBP, C12orf57, LINS1, LRP2, MED23, SLC25A1, KPTN, PACS1, VLDLR , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
3 %
X-linked Non-Specific Intellectual Disability Panel.

By Genetic Services Laboratory University of Chicago in United States.

ZNF674, CCDC22, FRMPD4, EIF2S3, KLF8, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SLC16A2, CLIC2, BRWD3, ZDHHC9, RPL10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15 , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
3 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

PIGG, CHAMP1, THG1L, VWA3B, CWF19L1, WDR73, TMEM240, SNX14, APOPT1, CHCHD10, PRDM8, PET100, RNF170, POLR3B, POLR3A, WDR81, COA5, ZNF592, XPA, TRNT1 , (...)

View the complete list with 460 more genes
Specificity
1 %
Genes
3 %
OFD1 Remaining Exons Sequencing.

By GeneDx in United States.

OFD1
Specificity
100 %
Genes
3 %
CustomNext: Neuro.

By Ambry Genetics in United States.

KAT6A, DDX3X, POGZ, CA8, CC2D1A, MAN1B1, TRAPPC9, LINS1, MED23, CTCF, PACS1, KATNAL2, SATB2, AP4B1, SMARCA2, SMARCB1, SMARCA4, NSUN2, SLC16A2, BRWD3 , (...)

View the complete list with 176 more genes
Specificity
1 %
Genes
3 %
Neurodevelopment-Expanded.

By Ambry Genetics in United States.

KAT6A, DDX3X, POGZ, CA8, CC2D1A, MAN1B1, TRAPPC9, LINS1, MED23, CTCF, PACS1, KATNAL2, SATB2, AP4B1, SMARCA2, SMARCB1, SMARCA4, NSUN2, SLC16A2, BRWD3 , (...)

View the complete list with 176 more genes
Specificity
1 %
Genes
3 %
IDNext.

By Ambry Genetics in United States.

KAT6A, DDX3X, CA8, CC2D1A, MAN1B1, TRAPPC9, LINS1, MED23, CTCF, PACS1, SATB2, AP4B1, SMARCA2, SMARCB1, SMARCA4, NSUN2, SLC16A2, BRWD3, RPL10, RPS6KA3 , (...)

View the complete list with 120 more genes
Specificity
1 %
Genes
3 %
OFD1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

OFD1
Specificity
100 %
Genes
3 %
Oral-facial-digital syndrome 1 (sequence analysis of OFD1 gene).

By CGC Genetics in Portugal.

OFD1
Specificity
100 %
Genes
3 %
Mental retardation, X-linked (NGS panel for 89 genes).

By CGC Genetics in Portugal.

KIF4A, MID2, PGK1, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, SOX3, SLC16A2, CLIC2, BRWD3, ZDHHC9, SHROOM4, RPS6KA3, FTSJ1, GDI1, USP9X, UPF3B, UBE2A, TSPAN7 , (...)

View the complete list with 69 more genes
Specificity
2 %
Genes
3 %
Joubert and Meckel-Gruber Syndromes Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ZNF423, CSPP1, PDE6D, KIF14, TCTN3, B9D2, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, TMEM231, OFD1, AHI1 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
3 %
Hereditary Cystic Kidney Diseases Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

MAPKBP1, GANAB, SEC61A1, DZIP1L, DNAJB11, DICER1, MUC1, CRB2, ANKS6, CEP83, ZNF423, CEP164, IFT172, NOTCH2, GLIS2, NEK8, RPGRIP1L, TTC21B, SDCCAG8, WDR19 , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
3 %
Polycystic kidney disease and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

BICC1, GANAB, SEC61A1, MUC1, ANKS6, ZNF423, NOTCH2, ATP6V0A4, GLIS3, TMEM231, OFD1, PKD1, PKD2, UMOD, PKHD1, TSC1, TSC2, ALG9, NPHP3, HNF1B , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
3 %
Polycystic kidney disease and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

BICC1, GANAB, SEC61A1, MUC1, ANKS6, ZNF423, NOTCH2, ATP6V0A4, GLIS3, TMEM231, OFD1, PKD1, PKD2, UMOD, PKHD1, TSC1, TSC2, ALG9, NPHP3, HNF1B , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
3 %
Overgrowth syndrome Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

EED, PDGFRB, EZH2, NFIX, DNMT3A, OFD1, PIGA, SETD2, GPC3, NSD1, FBN1
Specificity
10 %
Genes
3 %
Polycystic kidney disease and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

BICC1, GANAB, SEC61A1, MUC1, ANKS6, ZNF423, NOTCH2, ATP6V0A4, GLIS3, TMEM231, OFD1, PKD1, PKD2, UMOD, PKHD1, TSC1, TSC2, ALG9, NPHP3, HNF1B , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
3 %
Nephronophthisis and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

TRAF3IP1, MAPKBP1, FAN1, ANKS6, CEP83, ZNF423, CEP164, GLIS2, CEP41, NEK8, RPGRIP1L, TMEM138, TTC21B, SDCCAG8, WDR19, DCDC2, OFD1, AHI1, TMEM216, PKHD1 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
3 %
Joubert syndrome and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

ARMC9, PIBF1, ZNF423, CSPP1, PDE6D, KIF14, TMEM107, CEP120, CEP104, KIAA0556, C2CD3, TCTN3, B9D2, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
3 %
Joubert syndrome and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

ARMC9, PIBF1, ZNF423, CSPP1, PDE6D, KIF14, TMEM107, CEP120, CEP104, KIAA0556, C2CD3, TCTN3, B9D2, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
3 %
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

EEF1B2, UBR7, PARP1, CAPN10, SLC31A1, TRMT1, PGAP2, GMPPA, TANGO2, IMPA1, RALGDS, ZBTB40, KCNK9, SETD1A, HERC2, TM4SF20, AHDC1, CCDC88A, ACBD6, KDM5A , (...)

View the complete list with 847 more genes
Specificity
1 %
Genes
3 %
Hereditary kidney disorders - different panels.

By Institute of Human Genetics Cologne University in Germany.

CLDN10, TMEM260, KANK3, SLC6A20, MAGEC1, TBC1D1, SLC41A1, SLC36A2, SLC22A10, KCNMB1, NRIP1, MAGED2, DYNC2LI1, IFT52, RMND1, MAPKBP1, MOCOS, SLC26A1, PDE3A, FN1 , (...)

View the complete list with 391 more genes
Specificity
1 %
Genes
3 %
Macrocephaly.

By MGZ Medical Genetics Center in Germany.

DIS3L2, CCND2, HEPACAM, TBC1D7, KPTN, AKT1, AKT3, PIK3R2, GNAQ, PIK3CA, KIF7, GPSM2, GLI3, RNF135, EZH2, NFIX, DNMT3A, ABCC6, BRWD3, UPF3B , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
3 %
Nephrology Endocrinology and Electrolytes - panels.

By MGZ Medical Genetics Center in Germany.

UPK2, DACH1, DSTYK, CHD1L, CDC5L, BMP7, SIX2, TRAP1, UPK3A, AGTR1, ANLN, FGF20, ITGA8, PTPRO, EMP2, CHRM3, BICC1, ROBO2, ARHGDIA, AGT , (...)

View the complete list with 97 more genes
Specificity
1 %
Genes
3 %
Mental Retardation and Dysmorphology - panels.

By MGZ Medical Genetics Center in Germany.

GATAD2B, CUL7, SPECC1L, IRF6, CCNQ, ROR2, CCND2, HEPACAM, TBC1D7, KPTN, WNT5A, SRCAP, UBR1, C2CD3, TCTN3, NOTCH2, PACS1, EPG5, ERCC8, AKT1 , (...)

View the complete list with 323 more genes
Specificity
1 %
Genes
3 %
Syndromal Diseases - panels.

By MGZ Medical Genetics Center in Germany.

PACS1, EPG5, ERCC8, AKT1, AKT3, PIK3R2, INSR, IDH1, ALX1, GNAQ, PIK3CA, CPLANE1, KIF7, GNAS, TRIM37, EFTUD2, EFNB1, EP300, TBX5, SALL4 , (...)

View the complete list with 322 more genes
Specificity
1 %
Genes
3 %
X-Linked Mental Retardation.

By MGZ Medical Genetics Center in Germany.

NXF5, FAM126A, ZNF674, PGK1, CTDP1, GAN, KDM6A, THOC2, CLCN4, ZMYM3, EIF2S3, LAS1L, KLF8, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SOX3, SLC16A2 , (...)

View the complete list with 93 more genes
Specificity
1 %
Genes
3 %
Brain Malformations / Neuronal Migration Disorders.

By MGZ Medical Genetics Center in Germany.

NXF5, HERC2, ARHGEF15, JAM3, DARS, CLP1, DIS3L2, COL4A2, POLR3B, POLR3A, ITM2B, STUB1, NOL3, SEPSECS, KCNH5, ZNF674, KIF2A, KIF5C, TUBB, TUBG1 , (...)

View the complete list with 246 more genes
Specificity
1 %
Genes
3 %
Epileptic syndromes with epilepsy and intellectual disability panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

AUTS2, CNKSR2, MED12, TREX1, ZEB2, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, KDM5C, PAK3, GRIA3, SYP, PHF6, FGD1, ATRX, SMS, OFD1, CNTNAP2 , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
3 %
Joubert syndrome type 10.

By Centogene AG - the Rare Disease Company in Germany.

OFD1
Specificity
100 %
Genes
3 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

FCGR2B, TNF, ALOX5AP, PRKCH, TLR5, TIRAP, NOS2, XBP1, KCNK18, AANAT, SNIP1, EIF4E, ZBTB18, ADAM10, YAP1, ICAM1, SNX3, CISH, TAS2R38, FRG1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
3 %
Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel.

By CeGaT GmbH in Germany.

CYP26C1, NECTIN4, NECTIN1, BANF1, LIPH, APCDD1, SNRPE, KRT85, HOXC13, KCTD1, MSX1, KRT74, LPAR6, DLX3, TWIST2, HR, ANTXR1, TRPS1, EDARADD, DSG4 , (...)

View the complete list with 35 more genes
Specificity
2 %
Genes
3 %
Joubert Syndrome Panel.

By CeGaT GmbH in Germany.

ZNF423, CEP164, CSPP1, PDE6D, CEP104, KIAA0556, TCTN3, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, KIAA0586, TMEM231 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
3 %
Joubert Syndrome Panel.

By CeGaT GmbH in Germany.

ZNF423, CEP164, CSPP1, PDE6D, CEP104, KIAA0556, TCTN3, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, KIAA0586, TMEM231 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
3 %
Single gene testing OFD1.

By CeGaT GmbH in Germany.

OFD1
Specificity
100 %
Genes
3 %
Joubert Syndrome Panel.

By Molecular Vision Laboratory in United States.

CSPP1, IFT172, TCTN3, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, TMEM231, OFD1, AHI1, TMEM216, MKS1, CEP290 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
3 %
qChip.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

SEM1, IGF2, CBFB, TRAPPC10, FBXW11, TBX3, HDAC4, TRPS1, STS, HOXD13, LMNB1, MID2, IRF6, MNX1, SIM1, DISP1, MYCN, GATA4, ZIC3, VEGFA , (...)

View the complete list with 106 more genes
Specificity
1 %
Genes
3 %
qGenEx Craniofacial Anomalies.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

UBB, PAX7, HOXA2, TSHZ1, EIF4A3, DLX4, TBX22, SUMO1, KDM1A, SMOC2, WDR72, NOG, ODAPH, MMP20, KLK4, NECTIN1, ENAM, LTBP3, LRP6, PAX9 , (...)

View the complete list with 116 more genes
Specificity
1 %
Genes
3 %
Invitae Nephronophthisis Panel.

By Invitae in United States.

ANKS6, CEP83, ZNF423, CEP164, IFT172, GLIS2, NEK8, RPGRIP1L, TCTN1, TMEM237, TTC21B, SDCCAG8, WDR19, DCDC2, OFD1, AHI1, TMEM216, PKHD1, IQCB1, XPNPEP3 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
3 %
Invitae Joubert and Meckel-Gruber Syndromes Panel.

By Invitae in United States.

ZNF423, CSPP1, PDE6D, CEP104, TCTN3, B9D2, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, KIAA0586, TMEM231, OFD1 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
3 %
Joubert syndrome.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, OFD1, AHI1, TMEM216, CEP290, NPHP1, TMEM67, CC2D2A
Specificity
7 %
Genes
3 %
Oral-Facial-Digital Syndrome: OFD1 Full Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

OFD1
Specificity
100 %
Genes
3 %
Joubert Syndrome: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ZNF423, TCTN3, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM237, TTC21B, OFD1, AHI1, TMEM216, CEP290, NPHP1, TMEM67, CC2D2A
Specificity
6 %
Genes
3 %
Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

EFHC2, CELSR1, GPHN, SLC6A5, GLRA1, GLRB, SCN10A, BUB1B, MAPK10, COL18A1, ACY1, MED17, SNAP29, LIG4, NHEJ1, SLC46A1, ARL13B, RPGRIP1L, PGK1, SCN4B , (...)

View the complete list with 323 more genes
Specificity
1 %
Genes
3 %
Intellectual Disability NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

AQP7, TPH2, AFP, XIST, SNIP1, ZBTB24, GLUL, DIP2B, KCNK9, UPB1, CEP57, FTO, ZBTB16, TMCO1, IRX5, AGT, IGF1R, MRAP, HDAC4, IGF1 , (...)

View the complete list with 372 more genes
Specificity
1 %
Genes
3 %
Joubert and Meckel NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

PMPCA, B9D2, ARL13B, CEP41, KIF7, RPGRIP1L, TCTN2, TMEM138, TMEM237, B9D1, OFD1, AHI1, TMEM216, MKS1, CEP290, NPHP1, NPHP3, TMEM67, CC2D2A
Specificity
6 %
Genes
3 %
XLID NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

ZNF674, PGK1, CNKSR2, CCDC22, FRMPD4, ZCCHC12, WDR13, FAAH2, GSPT2, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SOX3, SLC16A2, TAF1, CLIC2, BRWD3, ZDHHC9 , (...)

View the complete list with 87 more genes
Specificity
1 %
Genes
3 %
Congenital Hepatic Fibrosis NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

EVC2, EVC, ARL13B, GLIS2, IFT80, NEK8, RPGRIP1L, TTC21B, OFD1, PKD1, PKD2, AHI1, PKHD1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
3 %
Comprehensive Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

RANGAP1, EFHC2, CELSR1, NIPA2, UBR5, VDAC1, BRD2, RBFOX3, KPNA7, CNTN2, ARHGEF15, PIK3AP1, FASN, RYR3, GABBR2, HCN2, TNK2, SRGAP2, GPHN, SLC12A5 , (...)

View the complete list with 427 more genes
Specificity
1 %
Genes
3 %
KidneySeq - 264 Genes.

By Iowa Institute of Human Genetics University of Iowa in United States.

FN1, FAN1, DSTYK, CHD1L, SIX2, ARHGAP24, NUP107, NUP93, NUP205, FAT1, XPO5, SGPL1, TRAP1, UPK3A, AGTR1, TBX18, EHHADH, ANLN, FGF20, KCTD1 , (...)

View the complete list with 232 more genes
Specificity
1 %
Genes
3 %
Primary Immunodeficiency Panel.

By Blueprint Genetics in Finland.

BCL11B, OTULIN, IRF2BP2, RASGRP1, CARMIL2, ZNF341, TFRC, POLE2, HYOU1, JAK1, ARPC1B, BACH2, LAT, MRTFA, MSN, GINS1, CD59, ADAM17, BCL10, IRF8 , (...)

View the complete list with 255 more genes
Specificity
1 %
Genes
3 %
Cystic Kidney Disease Panel.

By Blueprint Genetics in Finland.

MAPKBP1, GANAB, SEC61A1, DZIP1L, CRB2, ANKS6, CEP83, ZNF423, CEP164, IFT172, NOTCH2, GLIS2, NEK8, RPGRIP1L, TTC21B, SDCCAG8, WDR19, SIX5, DCDC2, OFD1 , (...)

View the complete list with 20 more genes
Specificity
3 %
Genes
3 %
Ataxia Panel.

By Blueprint Genetics in Finland.

CWF19L1, TMEM240, SNX14, WDR81, RUBCN, LMNB1, ITM2B, STUB1, RNF216, ELOVL5, NOL3, GRID2, LAMA1, SLC52A2, EBF3, ATCAY, BEAN1, CAMTA1, ATP8A2, UBA5 , (...)

View the complete list with 137 more genes
Specificity
1 %
Genes
3 %
X-linked Intellectual Disability Panel.

By Blueprint Genetics in Finland.

ELK1, NXF5, DDX3X, ZNF674, PGK1, CLCN4, ZCCHC12, KLF8, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, SOX3, SLC16A2, TAF1, BRWD3, ZDHHC9, RPL10, RBM10, SHROOM4 , (...)

View the complete list with 79 more genes
Specificity
2 %
Genes
3 %
Comprehensive Epilepsy Panel.

By Blueprint Genetics in Finland.

SNORD118, SLC39A8, YY1, TBCK, RMND1, MRPL44, GTPBP3, HECW2, WDR26, LYRM7, DARS, KCNH1, NACC1, DPYS, UNC80, FAR1, AIMP1, ECM1, GPHN, PIGT , (...)

View the complete list with 263 more genes
Specificity
1 %
Genes
3 %
Ciliopathy Panel.

By Blueprint Genetics in Finland.

ARMC9, TRAF3IP1, DYNC2LI1, KIAA0753, MAPKBP1, IFT81, DDX59, HYLS1, CRB2, WDR60, NEK1, CCNQ, DYNC2H1, ANKS6, CEP83, ZNF423, CEP164, CSPP1, PDE6D, KIF14 , (...)

View the complete list with 79 more genes
Specificity
2 %
Genes
3 %
Congenital Hepatic Fibrosis Panel.

By Blueprint Genetics in Finland.

NR1H4, ANKS6, ZNF423, CEP164, TCTN3, BAAT, B9D2, ARL13B, GLIS2, CPLANE1, CEP41, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1 , (...)

View the complete list with 32 more genes
Specificity
2 %
Genes
3 %
Joubert syndrome type 10.

By Bioarray in Spain.

OFD1
Specificity
100 %
Genes
3 %
Orofaciodigital Syndrome Type I, Sequencing OFD1 Gene.

By Reference Laboratory Genetics in Spain.

OFD1
Specificity
100 %
Genes
3 %
Joubert Syndrome Type 10, Sequencing OFD1 Gene.

By Reference Laboratory Genetics in Spain.

OFD1
Specificity
100 %
Genes
3 %
Polycystic Kidney Disease.

By Genome.One in Australia.

GANAB, OFD1, PKD1, PKD2, UMOD, PKHD1, TSC1, TSC2, HNF1B
Specificity
12 %
Genes
3 %
NGS XLID Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

THOC2, CNKSR2, CDK16, CCDC22, CLCN4, FRMPD4, ZMYM3, ZCCHC12, WDR13, FAAH2, EIF2S3, LAS1L, GSPT2, KLF8, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SOX3 , (...)

View the complete list with 94 more genes
Specificity
1 %
Genes
3 %
Comprehensive Brain Malformation Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

DISP1, VLDLR, MYCN, RBBP8, IER3IP1, RAB18, PIK3CA, GAS1, EOMES, DLL1, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
3 %
Joubert Syndrome.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

B9D2, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, OFD1, AHI1, TMEM216, MKS1, CEP290, NPHP1, NPHP3, TMEM67 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
3 %
X-linked Intellectual Disabilities Sequencing.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

PGK1, CNKSR2, CCDC22, FRMPD4, IL1RAPL1, NSDHL, NAA10, SOX3, SLC16A2, CLIC2, BRWD3, ZDHHC9, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, UPF3B , (...)

View the complete list with 68 more genes
Specificity
2 %
Genes
3 %
X-Linked Intellectual Disabilities Sequencing and Deletion/Duplication.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

PGK1, CNKSR2, CCDC22, FRMPD4, IL1RAPL1, NSDHL, NAA10, SOX3, SLC16A2, CLIC2, BRWD3, ZDHHC9, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, UPF3B , (...)

View the complete list with 67 more genes
Specificity
2 %
Genes
3 %
OFD1 sequencing.

By Genetic Services Laboratory University of Chicago in United States.

OFD1
Specificity
100 %
Genes
3 %
Renal Cystic Disorders Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

REN, MUC1, CRB2, BMPER, ANKS6, CEP83, CEP164, CSPP1, PDE6D, KIF14, TMEM107, CEP104, KIAA0556, IFT172, TCTN3, NOTCH2, GLIS3, B9D2, ARL13B, GLIS2 , (...)

View the complete list with 55 more genes
Specificity
2 %
Genes
3 %
OFD1 deletion/duplication analysis.

By Genetic Services Laboratory University of Chicago in United States.

OFD1
Specificity
100 %
Genes
3 %
Macrocephaly Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

RIN2, HEPACAM, TBC1D7, RNF125, NFIA, HERC1, KPTN, GLI3, RNF135, EZH2, NFIX, BRWD3, UPF3B, MED12, RAB39B, CUL4B, OFD1, SETD2, GPC3, NSD1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
3 %
Joubert/Meckel Gruber Syndrome Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

CSPP1, PDE6D, KIF14, TMEM107, CEP120, CEP104, KIAA0556, IFT172, TCTN3, B9D2, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
3 %
OFD1.

By Institute for Human Genetics University Clinic Freiburg in Germany.

OFD1
Specificity
100 %
Genes
3 %
OFD1 Select Exons Sequencing.

By GeneDx in United States.

OFD1
Specificity
100 %
Genes
3 %
TMEM216, AHI1, NPHP1, CEP290, TMEM67, RPGRIP1L, ARL13B, CC2D2A, OFD1, CEP41, TMEM237. NextGeneDx.Complete sequencing by NGS.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

ARL13B, CEP41, RPGRIP1L, TMEM237, OFD1, AHI1, TMEM216, CEP290, NPHP1, TMEM67, CC2D2A
Specificity
10 %
Genes
3 %
Joubert syndrome (NGS panel for 24 genes).

By CGC Genetics in Portugal.

EXOC8, ZNF423, CSPP1, PDE6D, TCTN3, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, TMEM231, OFD1, AHI1, TMEM216, CEP290 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
3 %
OFD1 -Related Disorders via the OFD1 Gene.

By PreventionGenetics PreventionGenetics in United States.

OFD1
Specificity
100 %
Genes
3 %
Overgrowth syndrome NGS panel.

By Connective Tissue Gene Tests in United States.

EED, PDGFRB, EZH2, NFIX, DNMT3A, OFD1, PIGA, SETD2, GPC3, NSD1, FBN1
Specificity
10 %
Genes
3 %
Overgrowth syndrome Comprehensive panel.

By Connective Tissue Gene Tests in United States.

EED, PDGFRB, EZH2, NFIX, DNMT3A, OFD1, PIGA, SETD2, GPC3, NSD1, FBN1
Specificity
10 %
Genes
3 %
Nephronophthisis and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

TRAF3IP1, MAPKBP1, FAN1, ANKS6, CEP83, ZNF423, CEP164, GLIS2, CEP41, NEK8, RPGRIP1L, TMEM138, TTC21B, SDCCAG8, WDR19, DCDC2, OFD1, AHI1, TMEM216, PKHD1 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
3 %
Nephronophthisis and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

TRAF3IP1, MAPKBP1, FAN1, ANKS6, CEP83, ZNF423, CEP164, GLIS2, CEP41, NEK8, RPGRIP1L, TMEM138, TTC21B, SDCCAG8, WDR19, DCDC2, OFD1, AHI1, TMEM216, PKHD1 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
3 %
Joubert syndrome and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

ARMC9, PIBF1, ZNF423, CSPP1, PDE6D, KIF14, TMEM107, CEP120, CEP104, KIAA0556, C2CD3, TCTN3, B9D2, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
3 %
OFD1-Related Joubert Syndrome.

By Bioscientia GmbH Center for Human Genetics in Germany.

OFD1
Specificity
100 %
Genes
3 %
Oral-facial-digital syndrome type 1.

By Centogene AG - the Rare Disease Company in Germany.

OFD1
Specificity
100 %
Genes
3 %
Retinitis pigmentosa type 23 X-linked.

By Centogene AG - the Rare Disease Company in Germany.

OFD1
Specificity
100 %
Genes
3 %
Joubert Syndrome Panel.

By CeGaT GmbH in Germany.

ZNF423, CEP164, CSPP1, PDE6D, CEP104, KIAA0556, TCTN3, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, KIAA0586, TMEM231 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
3 %
Epilepsy and X-linked Mental Retardation with Seizures Panel.

By CeGaT GmbH in Germany.

PGK1, UBE2A, MED12, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, IQSEC2, ATRX, SMS, OFD1, PCDH19 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
3 %
Joubert Syndrome Panel.

By CeGaT GmbH in Germany.

ZNF423, CEP164, CSPP1, PDE6D, CEP104, KIAA0556, TCTN3, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, KIAA0586, TMEM231 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
3 %
Potentially lethal skeletal disorders Panel.

By CeGaT GmbH in Germany.

WDR34, INPPL1, GDF5, TRIP11, SLC35D1, LIFR, FLNB, DLL3, FAM111A, RNU4ATAC, BMPER, ARSE, NEK1, WNT7A, DYNC2H1, TCTN3, IFT80, GNPAT, GLI3, SOX9 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
3 %
Joubert Syndrome.

By Asper Biogene Asper Biogene LLC in Estonia.

ZNF423, CSPP1, PDE6D, CEP104, KIAA0556, TCTN3, B9D2, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, KIAA0586, TMEM231 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
3 %
Brain malformations.

By Asper Biogene Asper Biogene LLC in Estonia.

CLP1, TUBGCP6, SEPSECS, AMPD2, CEP63, KNL1, CEP135, LAMB1, SNAP29, ERMARD, KIF2A, KIF5C, TUBB, TUBG1, RTTN, TBC1D20, CCND2, ZNF423, OCLN, TCTN3 , (...)

View the complete list with 125 more genes
Specificity
1 %
Genes
3 %
Invitae Oral-Facial-Digital Syndrome Type 1 Test.

By Invitae in United States.

OFD1
Specificity
100 %
Genes
3 %
Oral-Facial-Digital Syndrome: OFD1 Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

OFD1
Specificity
100 %
Genes
3 %
X-linked Intellectual Disability: Gene Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PGK1, CNKSR2, CDK16, CCDC22, FRMPD4, KLF8, IL1RAPL1, NSDHL, NAA10, SOX3, SLC16A2, CLIC2, BRWD3, ZDHHC9, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1 , (...)

View the complete list with 71 more genes
Specificity
2 %
Genes
3 %
Joubert Syndrome NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

ARL13B, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, OFD1, AHI1, TMEM216, MKS1, CEP290, NPHP1, TMEM67, CC2D2A
Specificity
6 %
Genes
3 %
OFD1.

By Fulgent Genetics Fulgent Genetics in United States.

OFD1
Specificity
100 %
Genes
3 %
Idiopathic Generalized Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

NIPA2, CNTN2, DHFR, CLCN2, ZEB2, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, ATRX, OFD1 , (...)

View the complete list with 69 more genes
Specificity
2 %
Genes
3 %
Macrocephaly / Overgrowth Syndrome Panel.

By Blueprint Genetics in Finland.

EED, DIS3L2, MPDZ, CCND2, HEPACAM, KPTN, AKT1, AKT3, PIK3R2, DHCR24, PIK3CA, KIF7, GPSM2, GLI3, RNF135, EZH2, NFIX, DNMT3A, BRWD3, UPF3B , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
3 %
Joubert Syndrome Panel.

By Blueprint Genetics in Finland.

ARMC9, KIAA0753, ZNF423, CEP164, CSPP1, PDE6D, TMEM107, CEP120, CEP104, KIAA0556, TCTN3, B9D2, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
3 %
JOUBERT SYNDROME (JBTS).

By Laboratorio de Genetica Clinica SL in Spain.

ARL13B, CPLANE1, RPGRIP1L, OFD1, AHI1, TMEM216, CEP290, NPHP1, TMEM67, CC2D2A, INPP5E
Specificity
10 %
Genes
3 %
OROFACIODIGITAL SYNDROME TYPE 1.

By Laboratorio de Genetica Clinica SL in Spain.

OFD1
Specificity
100 %
Genes
3 %
Joubert Syndrome , Panel Massive Sequencing (NGS) 13 Genes.

By Reference Laboratory Genetics in Spain.

ARL13B, CEP41, KIF7, RPGRIP1L, TMEM138, TMEM237, OFD1, AHI1, TMEM216, CEP290, TMEM67, CC2D2A, INPP5E
Specificity
8 %
Genes
3 %
STK36.

By Fulgent Genetics Fulgent Genetics in United States.

STK36
Specificity
100 %
Genes
3 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

SETD6, PIM3, MAP3K10, PDGFA, MAP3K11, PAK2, KHSRP, WASL, CASC11, GLIS1, NRG2, SOX21, SMARCC1, CUL4A, UTY, WNT9A, TEF, CHIC1, TRIM28, CDK11B , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
3 %
DYX1C1.

By Fulgent Genetics Fulgent Genetics in United States.

DNAAF4
Specificity
100 %
Genes
3 %
Primary ciliary dyskinesia type 25.

By Centogene AG - the Rare Disease Company in Germany.

DNAAF4
Specificity
100 %
Genes
3 %
Single gene testing DYX1C1.

By CeGaT GmbH in Germany.

DNAAF4
Specificity
100 %
Genes
3 %
GAS8.

By Fulgent Genetics Fulgent Genetics in United States.

GAS8
Specificity
100 %
Genes
3 %
DNAJB13.

By Fulgent Genetics Fulgent Genetics in United States.

DNAJB13
Specificity
100 %
Genes
3 %
Primary Ciliary Dyskinesia (PCD) via DNAJB13 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

DNAJB13
Specificity
100 %
Genes
3 %
Primary ciliary dyskinesia (sequence analysis of DNAH11).

By CGC Genetics in Portugal.

DNAH11
Specificity
100 %
Genes
3 %
Heart Diseases - panels.

By MGZ Medical Genetics Center in Germany.

TLL1, NKX2-6, NR2F2, MED13L, TAB2, SMAD6, TBX20, GATA5, ADAMTSL4, ZFPM2, NOTCH2, CFC1, GATA6, CRELD1, CITED2, GATA4, GDF1, GJA1, TBX5, VCL , (...)

View the complete list with 137 more genes
Specificity
1 %
Genes
3 %
Primary ciliary dyskinesia type 7.

By Centogene AG - the Rare Disease Company in Germany.

DNAH11
Specificity
100 %
Genes
3 %
Primary ciliary dyskinesia.

By Bioarray in Spain.

DNAH11
Specificity
100 %
Genes
3 %
Primary Ciliary Dyskinesia Type 7 with or without Situs Inversus , Sequencing DNAH11 Gene.

By Reference Laboratory Genetics in Spain.

DNAH11
Specificity
100 %
Genes
3 %
DNAH11. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

DNAH11
Specificity
100 %
Genes
3 %
Primary Ciliary Dyskinesia (PCD) via the DNAH11 Gene.

By PreventionGenetics PreventionGenetics in United States.

DNAH11
Specificity
100 %
Genes
3 %
Primary Ciliary Dyskinesia 7: DNAH11-Related Primary Ciliary Dyskinesia.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

DNAH11
Specificity
100 %
Genes
3 %
DNAH11.

By Fulgent Genetics Fulgent Genetics in United States.

DNAH11
Specificity
100 %
Genes
3 %

Alternate names

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



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like TRIMETHYLAMINURIA; TMAU SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC; CMT2CC EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23; EIEE23 HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE

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