Leber Congenital Amaurosis 1; Lca1

Description

Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction. Patients usually present at birth with profound vision loss and pendular nystagmus. Electroretinogram (ERG) responses are usually nonrecordable. Other clinical findings may include high hypermetropia, photodysphoria, oculodigital sign, keratoconus, cataracts, and a variable appearance to the fundus (summary by Chung and Traboulsi, 2009). Genetic Heterogeneity of Leber Congenital AmaurosisLCA2 (OMIM ) is caused by mutation in the RPE65 gene (RPE65 ) on chromosome 1p31. LCA3 (OMIM ) is caused by mutation in the SPATA7 gene (OMIM ) on chromosome 14q31.3. LCA4 (OMIM ) is caused by mutation in the AIPL1 gene (OMIM ) on chromosome 17p13.1. LCA5 (OMIM ) is caused by mutation in the LCA5 gene (OMIM ) on chromosome 6q14.1. LCA6 (OMIM ) is caused by mutation in the RPGRIP1 gene (OMIM ) on chromosome 14q11. LCA7 (OMIM ) is caused by mutation in the CRX gene (OMIM ) on chromosome 19q13.3. LCA8 (OMIM ) is caused by mutation in the CRB1 gene (OMIM ) on chromosome 1q31-q32. LCA9 (OMIM ) is a locus that has been mapped to chromosome 1p36. LCA10 (OMIM ) is caused by mutation in the CEP290 gene (OMIM ) on chromosome 12q21 and may account for as many as 21% of cases of LCA. LCA11 (OMIM ) is caused by mutation in the IMPDH1 gene (OMIM ) on chromosome 7q31.3-q32. LCA12 (OMIM ) is caused by mutation in the RD3 gene (OMIM ) on chromosome 1q32.3. LCA13 (OMIM ) is caused by mutation in the RDH12 gene (OMIM ) on chromosome 14q24.1. LCA14 (OMIM ) is caused by mutation in the LRAT gene (OMIM ) on chromosome 4q31. LCA15 (OMIM ) is caused by mutation in the TULP1 gene (OMIM ) on chromosome 6p21.3. LCA16 (OMIM ) is caused by mutation in the KCNJ13 gene (OMIM ) on chromosome 2q37. LCA17 (OMIM ) is caused by mutation in the GDF6 gene (OMIM ) on chromosome 8q22. LCA18 (see {608133}) is caused by mutation in the PRPH2 gene (OMIM ) on chromosome 6p21.Perrault et al. (1999) provided a review of Leber congenital amaurosis, with emphasis on genetic heterogeneity.Wiszniewski et al. (2011) analyzed 13 known LCA genes in 60 LCA probands, and identified homozygous or compound heterozygous mutations in 42 (70%). In addition, a third disease-associated mutant allele at a second locus was identified in 7 (12%) of the 60 patients. Wiszniewski et al. (2011) stated that the significance of the third mutated allele was unknown, but suggested that mutational load might be important to penetrance of the LCA phenotype.Because LCA manifests very early in life and results in profound vision loss, patients with mutations in other syndromic or nonsyndromic eye disease genes may receive an initial diagnosis of LCA, prior to development of syndromic features or before more thorough phenotyping can be performed (see, e.g., Senior-Loken syndrome-5, {609254}).

Clinical Features

Top most frequent phenotypes and symptoms related to Leber Congenital Amaurosis 1; Lca1

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Growth delay
  • Nystagmus
  • Sensorineural hearing impairment
  • Muscular hypotonia
  • Cataract
And another 45 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 Leber Congenital Amaurosis 1; Lca1 have a estimated birth prevalence of 2.5 per 100k in Europe.


Mendelian

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Leber Congenital Amaurosis 1; Lca1 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
3 %
Genes
80 %
CEP290 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

CEP290
Specificity
100 %
Genes
5 %
CEP290 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

CEP290
Specificity
100 %
Genes
5 %
CEP290 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

CEP290
Specificity
100 %
Genes
5 %
CEP290 Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

CEP290
Specificity
100 %
Genes
5 %
Leber Congential Amaurosis Panel (MitomeNGS).

By Baylor Miraca Genetics Laboratories in United States.

NMNAT1, LCA5, IQCB1, CABP4, RD3, RDH12, LRAT, CRB1, CRX, GUCY2D, IMPDH1, RPE65, RPGRIP1, TULP1, CEP290, KCNJ13, OTX2, SPATA7, AIPL1
Specificity
90 %
Genes
85 %
Joubert Syndrome Evaluation.

By Athena Diagnostics Inc in United States.

AHI1, TMEM216, CEP290, NPHP1, TMEM67, CC2D2A
Specificity
17 %
Genes
5 %
CEP290 DNA Sequencing Test.

By Athena Diagnostics Inc in United States.

CEP290
Specificity
100 %
Genes
5 %
Leber Congenital Amaurosis Panel.

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

IFT140, GDF6, CLUAP1, DTHD1, NMNAT1, LCA5, IQCB1, CABP4, RD3, RDH12, LRAT, CRB1, CRX, GUCY2D, IMPDH1, RPE65, RPGRIP1, TULP1, PRPH2, CEP290 , (...)

View the complete list with 4 more genes
Specificity
80 %
Genes
95 %
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
17 %
Genes
75 %
Bardet-Biedl Syndrome Panel.

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

SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, ADIPOR1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, CCDC28B, C8orf37, TRIM32, TTC8, CEP290 , (...)

View the complete list with 6 more genes
Specificity
8 %
Genes
10 %
Joubert syndrome, Bardet-Biedl, Senior Loken, LCA - CEP290 Sequencing.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado in United States.

CEP290
Specificity
100 %
Genes
5 %
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
75 %
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
5 %
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
5 %
Bardet-Biedl Syndrome Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

IFT172, IFT74, SDCCAG8, WDPCP, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, TRIM32, TTC8, CEP290, MKKS, ARL6
Specificity
6 %
Genes
5 %
Monogenic Obesity Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

NR0B2, NTRK2, DYRK1B, SIM1, AFF4, PRMT7, IFT172, IFT74, GNAS, KIDINS220, SDCCAG8, WDPCP, MAGEL2, VPS13B, CUL4B, PHF6, SETD2, MC4R, POMC, PCSK1 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
5 %
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
5 %
Meckel Gruber Syndrome Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

CSPP1, KIF14, TMEM107, TCTN3, B9D2, RPGRIP1L, TCTN2, B9D1, TMEM231, TMEM216, MKS1, CEP290, NPHP3, TMEM67, CC2D2A
Specificity
7 %
Genes
5 %
Nephronophthisis Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

ANKS6, CEP83, ZNF423, CEP164, IFT172, GLIS2, NEK8, RPGRIP1L, TTC21B, SDCCAG8, WDR19, DCDC2, IQCB1, XPNPEP3, NPHP4, CEP290, NPHP1, NPHP3, TMEM67, INVS
Specificity
10 %
Genes
10 %
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
4 %
Genes
15 %
Nephronophthisis Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

ANKS6, CEP83, ZNF423, CEP164, IFT172, GLIS2, NEK8, RPGRIP1L, TTC21B, SDCCAG8, WDR19, DCDC2, IQCB1, XPNPEP3, NPHP4, CEP290, NPHP1, NPHP3, TMEM67, INVS
Specificity
10 %
Genes
10 %
Bardet-Biedl Syndrome Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

IFT172, IFT74, SDCCAG8, WDPCP, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, TRIM32, TTC8, CEP290, MKKS, ARL6
Specificity
6 %
Genes
5 %
Meckel Gruber Syndrome Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

CSPP1, KIF14, TMEM107, TCTN3, B9D2, RPGRIP1L, TCTN2, B9D1, TMEM231, TMEM216, MKS1, CEP290, NPHP3, TMEM67, CC2D2A
Specificity
7 %
Genes
5 %
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
5 %
Monogenic Obesity Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

NR0B2, NTRK2, DYRK1B, SIM1, AFF4, PRMT7, IFT172, IFT74, GNAS, KIDINS220, SDCCAG8, WDPCP, MAGEL2, VPS13B, CUL4B, PHF6, SETD2, MC4R, POMC, PCSK1 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
5 %
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
10 %
CEP290.

By Institute for Human Genetics University Clinic Freiburg in Germany.

CEP290
Specificity
100 %
Genes
5 %
ExomePLUS Cystic Disease & Dysplasia/Agenesis.

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

REN, MUC1, FRAS1, ANKS6, BMP4, ACE, GATA3, PKD2, UMOD, PKHD1, TSC1, TSC2, PAX2, IQCB1, NPHP4, CEP290, NPHP1, NPHP3, HNF1B, WT1 , (...)

View the complete list with 2 more genes
Specificity
10 %
Genes
10 %
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
27 %
Genes
70 %
Comprehensive Brain Malformations Panel.

By GeneDx in United States.

OCLN, VLDLR, EOMES, CEP41, KIF7, RPGRIP1L, TMEM138, TMEM237, TSEN2, TSEN34, LAMC3, CASK, OPHN1, TUBB2B, SRPX2, ADGRG1, PAFAH1B1, TSEN54, FLNA, TUBA8 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
5 %
CEP290 mutation analysis.

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

CEP290
Specificity
100 %
Genes
5 %
CEP290. Complete sequencing.

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

CEP290
Specificity
100 %
Genes
5 %
CEP290. Complete sequencing.

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

CEP290
Specificity
100 %
Genes
5 %
NPHP1, NPHP4, CEP290, RPGRIP1L, GLIS2. NextGeneDx.Complete sequencing by NGS.

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

GLIS2, RPGRIP1L, NPHP4, CEP290, NPHP1
Specificity
20 %
Genes
5 %
CEP290. Complete sequencing.

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

CEP290
Specificity
100 %
Genes
5 %
CEP290. Detection of the mutation c.1219_1220del (p.Met407fs) by sequencing.

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

CEP290
Specificity
100 %
Genes
5 %
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
5 %
CEP290. Complete sequencing.

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

CEP290
Specificity
100 %
Genes
5 %
CEP290. NextGeneDx. Complete sequencing by NGS.

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

CEP290
Specificity
100 %
Genes
5 %
Joubert syndrome type 5 (sequence analysis of CEP290/NPHP6 gene).

By CGC Genetics in Portugal.

CEP290
Specificity
100 %
Genes
5 %
Leber congenital amaurosis 10 (LCA10, sequence analysis of CEP290 gene).

By CGC Genetics in Portugal.

CEP290
Specificity
100 %
Genes
5 %
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
5 %
Leber congenital amaurosis (NGS panel for 20 genes).

By CGC Genetics in Portugal.

GDF6, NMNAT1, LCA5, IQCB1, RD3, RDH12, LRAT, CRB1, CRX, GUCY2D, IMPDH1, RPE65, RPGRIP1, TULP1, PRPH2, CEP290, KCNJ13, OTX2, SPATA7, AIPL1
Specificity
90 %
Genes
90 %
Bardet-Biedl syndrome (NGS panel for 22 genes).

By CGC Genetics in Portugal.

SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, ALMS1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, CCDC28B, TRIM32, TTC8, CEP290, MKKS , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
5 %
Nephronophthisis (NGS panel for 19 genes).

By CGC Genetics in Portugal.

ANKS6, CEP83, ZNF423, CEP164, GLIS2, NEK8, RPGRIP1L, TTC21B, SDCCAG8, WDR19, DCDC2, IQCB1, XPNPEP3, NPHP4, CEP290, NPHP1, NPHP3, TMEM67, INVS
Specificity
11 %
Genes
10 %
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
3 %
Genes
10 %
Leber congenital amaurosis (deletions/duplications of GUCY2D, RDH12, RPGRIP1 and CEP290 genes).

By CGC Genetics in Portugal.

RDH12, GUCY2D, RPGRIP1, CEP290
Specificity
100 %
Genes
20 %
Senior-Loken syndrome 6.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

CEP290
Specificity
100 %
Genes
5 %
Meckel syndrome, type 4.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

CEP290
Specificity
100 %
Genes
5 %
Joubert syndrome 5.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

CEP290
Specificity
100 %
Genes
5 %
Leber congenital amaurosis 10.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

CEP290
Specificity
100 %
Genes
5 %
Bardet-Biedl syndrome 14.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

CEP290
Specificity
100 %
Genes
5 %
Bardet-Biedl syndrome.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

WDPCP, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, TRIM32, TTC8, CEP290, MKKS, ARL6
Specificity
7 %
Genes
5 %
Meckel syndrome 4.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

CEP290
Specificity
100 %
Genes
5 %
Nephronophthisis and Senior-Loken Syndrome Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ANKS6, CEP83, ZNF423, CEP164, GLIS2, NEK8, RPGRIP1L, TTC21B, SDCCAG8, WDR19, DCDC2, IQCB1, NPHP4, CEP290, NPHP1, NPHP3, TMEM67, INVS
Specificity
12 %
Genes
10 %
Autosomal Recessive Retinitis Pigmentosa Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PLA2G5, KIAA1549, ADGRA3, ARL2BP, SLC7A14, EMC1, RBP3, NR2E3, MAK, CLN3, PRPF31, EYS, LCA5, CERKL, FLVCR1, SEMA4A, PRCD, RD3, RDH12, LRAT , (...)

View the complete list with 39 more genes
Specificity
21 %
Genes
60 %
Leber Congenital Amaurosis Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

DTHD1, PDE6H, NMNAT1, CNGA3, LCA5, IQCB1, SNRNP200, CABP4, RD3, RDH12, LRAT, GNAT2, MERTK, CRB1, CRX, GUCY2D, IMPDH1, RPE65, RPGRIP1, TULP1 , (...)

View the complete list with 8 more genes
Specificity
61 %
Genes
85 %
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
18 %
Genes
70 %
Congenital Limb Malformation Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

LMBR1, NOG, FMN1, FBXW4, FBLN1, IHH, WNT3, BMP2, TBX3, HDAC4, GDF5, DOCK6, ARHGAP31, HOXD13, SF3B4, LRP4, WNT7A, TBX15, ROR2, ESCO2 , (...)

View the complete list with 49 more genes
Specificity
2 %
Genes
5 %
Bardet-Biedl Syndrome Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

IFT172, IFT74, SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, C8orf37, TRIM32, TTC8, CEP290 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
5 %
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
5 %
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
7 %
Genes
100 %
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
3 %
Genes
10 %
Joubert and Meckel-Gruber Syndromes via CEP290 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CEP290
Specificity
100 %
Genes
5 %
Leber Congenital Amaurosis 10 (LCA10) via CEP290 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CEP290
Specificity
100 %
Genes
5 %
Focused Inherited Retinal Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

NMNAT1, NR2E3, RDH5, PRPF8, EYS, LCA5, IQCB1, CABP4, RD3, RDH12, LRAT, PCARE, CNGA1, PDE6A, CRB1, CRX, GUCY2D, IMPDH1, PDE6B, RHO , (...)

View the complete list with 11 more genes
Specificity
55 %
Genes
85 %
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
5 %
Genes
10 %
Leber congenital amaurosis and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

IFT140, GDF6, CLUAP1, DTHD1, NMNAT1, ROM1, RDH5, ALMS1, CNGA3, MYO7A, LCA5, IQCB1, SNRNP200, CABP4, RD3, RDH12, LRAT, MERTK, CRB1, CRX , (...)

View the complete list with 12 more genes
Specificity
60 %
Genes
95 %
Leber congenital amaurosis and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

IFT140, GDF6, CLUAP1, DTHD1, NMNAT1, ROM1, RDH5, ALMS1, CNGA3, MYO7A, LCA5, IQCB1, SNRNP200, CABP4, RD3, RDH12, LRAT, MERTK, CRB1, CRX , (...)

View the complete list with 12 more genes
Specificity
60 %
Genes
95 %
Leber congenital amaurosis and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

IFT140, GDF6, CLUAP1, DTHD1, NMNAT1, ROM1, RDH5, ALMS1, CNGA3, MYO7A, LCA5, IQCB1, SNRNP200, CABP4, RD3, RDH12, LRAT, MERTK, CRB1, CRX , (...)

View the complete list with 12 more genes
Specificity
60 %
Genes
95 %
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
7 %
Genes
10 %
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
7 %
Genes
10 %
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
7 %
Genes
10 %
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
5 %
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
5 %
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
5 %
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
5 %
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
15 %
CEP290-Related Leber Congenital Amaurosis.

By Bioscientia GmbH Center for Human Genetics in Germany.

CEP290
Specificity
100 %
Genes
5 %
CEP290-Related Bardet-Biedl Syndrome.

By Bioscientia GmbH Center for Human Genetics in Germany.

CEP290
Specificity
100 %
Genes
5 %
CEP290-Related Joubert Syndrome.

By Bioscientia GmbH Center for Human Genetics in Germany.

CEP290
Specificity
100 %
Genes
5 %
CEP290-Related Meckel Syndrome.

By Bioscientia GmbH Center for Human Genetics in Germany.

CEP290
Specificity
100 %
Genes
5 %
Meckel Gruber Syndrome.

By GeneTech ATS GeneTech Private Limited in India.

MKS1, CEP290, TMEM67, CC2D2A
Specificity
25 %
Genes
5 %
Nephronophthisis panel.

By Centogene AG - the Rare Disease Company in Germany.

ANKS6, ZNF423, CEP164, GLIS2, NEK8, RPGRIP1L, SDCCAG8, IQCB1, NPHP4, CEP290, NPHP1, NPHP3, INVS
Specificity
16 %
Genes
10 %
Meckel syndrome type 4.

By Centogene AG - the Rare Disease Company in Germany.

CEP290
Specificity
100 %
Genes
5 %
Joubert syndrome type 5.

By Centogene AG - the Rare Disease Company in Germany.

CEP290
Specificity
100 %
Genes
5 %
Bardet Biedl panel.

By Centogene AG - the Rare Disease Company in Germany.

SDCCAG8, WDPCP, ALMS1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, CCDC28B, TRIM32, TTC8, CEP290, MKKS, ARL6
Specificity
6 %
Genes
5 %
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
10 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company in Germany.

OPLAH, PPM1K, IKBKB, LCK, CABS1, SOX6, OPRM1, IL2, CTPS1, IRF8, CD247, ADK, UQCC2, MPC1, UPB1, CORO1A, CD3G, MCM4, UQCRC2, GPHN , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
5 %
CentoICU platinum.

By Centogene AG - the Rare Disease Company in Germany.

FRAS1, TSPYL1, IL2RA, CARD11, NOTCH2, TNFRSF13C, PRKDC, ICOS, CD81, CR2, CD19, F7, JAGN1, ABCC2, NFKB2, IL12RB1, COL7A1, COL17A1, ITGA6, ITGB4 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
5 %
Bardet Biedl Syndrome Panel.

By CeGaT GmbH in Germany.

IFT172, TTC21B, SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, ALMS1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, CCDC28B, TRIM32, TTC8 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
5 %
Senior Loken Syndrome Panel.

By CeGaT GmbH in Germany.

TRAF3IP1, IFT81, ZNF423, CEP164, SDCCAG8, WDR19, IQCB1, NPHP4, CEP290, NPHP1, NPHP3, INVS
Specificity
17 %
Genes
10 %
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
5 %
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
5 %
Bardet Biedl Syndrome Panel.

By CeGaT GmbH in Germany.

IFT172, TTC21B, SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, ALMS1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, CCDC28B, TRIM32, TTC8 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
5 %
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
18 %
Genes
35 %
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
5 %
Nephronophthisis Panel.

By CeGaT GmbH in Germany.

SLC41A1, FAN1, ANKS6, CEP83, ZNF423, CEP164, GLIS2, NEK8, TTC21B, WDR19, DCDC2, IQCB1, XPNPEP3, NPHP4, CEP290, NPHP1, NPHP3, TMEM67, INVS
Specificity
11 %
Genes
10 %
Senior Loken Syndrome Panel.

By CeGaT GmbH in Germany.

TRAF3IP1, IFT81, ZNF423, CEP164, SDCCAG8, WDR19, IQCB1, NPHP4, CEP290, NPHP1, NPHP3, INVS
Specificity
17 %
Genes
10 %
Ataxia and differential diagnoses Panel.

By CeGaT GmbH in Germany.

RPIA, POLH, NOP56, XPC, VWA3B, CWF19L1, WDR73, TMEM240, SNX14, CHCHD10, RNF170, POLR3B, POLR3A, WDR81, XPA, TRNT1, PMPCA, RUBCN, SLC9A1, STUB1 , (...)

View the complete list with 184 more genes
Specificity
1 %
Genes
5 %
Meckel Syndrome Panel.

By CeGaT GmbH in Germany.

B9D2, RPGRIP1L, TCTN2, B9D1, WDPCP, TMEM231, TMEM216, MKS1, CEP290, NPHP3, TMEM67, CC2D2A
Specificity
9 %
Genes
5 %
Senior-Loken Syndrome Panel.

By CeGaT GmbH in Germany.

TRAF3IP1, IFT81, ZNF423, CEP164, SDCCAG8, WDR19, IQCB1, NPHP4, CEP290, NPHP1, NPHP3, INVS
Specificity
17 %
Genes
10 %
Bardet-Biedl Syndrome Panel.

By CeGaT GmbH in Germany.

IFT172, TTC21B, SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, ALMS1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, CCDC28B, TRIM32, TTC8 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
5 %
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
5 %
Leber Congenital Amaurosis Panel.

By CeGaT GmbH in Germany.

NMNAT1, RDH5, LCA5, IQCB1, RD3, RDH12, LRAT, MERTK, CRB1, CRX, GUCY2D, RPE65, RPGRIP1, TULP1, PRPH2, CEP290, KCNJ13, OTX2, SPATA7, AIPL1
Specificity
80 %
Genes
80 %
Leber Congenital Amaurosis.

By Asper Biogene Asper Biogene LLC in Estonia.

GDF6, NMNAT1, LCA5, RD3, RDH12, LRAT, CRB1, CRX, GUCY2D, IMPDH1, RPE65, RPGRIP1, TULP1, CEP290, KCNJ13, SPATA7, AIPL1
Specificity
100 %
Genes
85 %
Bardet Biedl Syndrome.

By Asper Biogene Asper Biogene LLC in Estonia.

GNAS, SDCCAG8, WDPCP, LZTFL1, PHF6, ALMS1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, CCDC28B, TRIM32, TTC8, CEP290, MKKS , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
5 %
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
5 %
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
5 %
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
7 %
Genes
95 %
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
7 %
Genes
95 %
Bardet-Biedl syndrome panel.

By Molecular Vision Laboratory in United States.

IFT172, SDCCAG8, BBIP1, IFT27, LZTFL1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, C8orf37, TRIM32, TTC8, CEP290, MKKS, NPHP1 , (...)

View the complete list with 3 more genes
Specificity
9 %
Genes
10 %
Leber congenital amaurosis panel.

By Molecular Vision Laboratory in United States.

IFT140, GDF6, DTHD1, NMNAT1, LCA5, IQCB1, CABP4, RD3, RDH12, LRAT, CRB1, CRX, GUCY2D, IMPDH1, RPE65, RPGRIP1, TULP1, PRPH2, CEP290, KCNJ13 , (...)

View the complete list with 3 more genes
Specificity
83 %
Genes
95 %
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
5 %
Senior-Loken Syndrome panel.

By Molecular Vision Laboratory in United States.

IQCB1, NPHP4, CEP290, NPHP1
Specificity
50 %
Genes
10 %
CEP290 single gene sequencing.

By Molecular Vision Laboratory in United States.

CEP290
Specificity
100 %
Genes
5 %
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
7 %
Genes
90 %
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
5 %
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
3 %
Genes
35 %
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
2 %
Genes
5 %
Invitae Senior-Loken Syndrome Panel.

By Invitae in United States.

SDCCAG8, WDR19, IQCB1, NPHP4, CEP290, NPHP1, NPHP3, INVS
Specificity
25 %
Genes
10 %
Invitae Bardet-Biedl Syndrome Panel.

By Invitae in United States.

SDCCAG8, WDPCP, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, TRIM32, TTC8, CEP290, MKKS, ARL6
Specificity
7 %
Genes
5 %
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
8 %
Genes
10 %
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
5 %
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
3 %
Genes
15 %
Invitae Leber Congenital Amaurosis Panel.

By Invitae in United States.

GDF6, NMNAT1, LCA5, IQCB1, RD3, RDH12, LRAT, CRB1, CRX, GUCY2D, RPE65, RPGRIP1, TULP1, PRPH2, CEP290, KCNJ13, OTX2, SPATA7, AIPL1
Specificity
90 %
Genes
85 %
Bardet-Biedl syndrome.

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

SDCCAG8, WDPCP, BBIP1, LZTFL1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, TRIM32, TTC8, CEP290, MKKS, ARL6
Specificity
6 %
Genes
5 %
Leber Congenital Amaurosis.

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

NMNAT1, LCA5, IQCB1, RD3, RDH12, LRAT, CRB1, CRX, GUCY2D, IMPDH1, RPE65, RPGRIP1, TULP1, CEP290, KCNJ13, SPATA7, AIPL1
Specificity
100 %
Genes
85 %
Nephronophthisis.

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

ANKS6, GLIS2, NEK8, RPGRIP1L, SDCCAG8, AHI1, IQCB1, NPHP4, CEP290, NPHP1, NPHP3, INVS
Specificity
17 %
Genes
10 %
Meckel syndrome.

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

B9D2, RPGRIP1L, TCTN2, B9D1, TMEM216, MKS1, CEP290, NPHP3, TMEM67, CC2D2A
Specificity
10 %
Genes
5 %
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
5 %
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
14 %
Genes
25 %
Bardet-Biedl Syndrome: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SDCCAG8, WDPCP, LZTFL1, ALMS1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, TRIM32, TTC8, CEP290, MKKS, ARL6
Specificity
6 %
Genes
5 %
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
8 %
Genes
80 %
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
5 %
Leber Congenital Amaurosis: Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

LCA5, IQCB1, CABP4, RD3, RDH12, LRAT, CRB1, CRX, GUCY2D, IMPDH1, RPE65, RPGRIP1, TULP1, CEP290, KCNJ13, OTX2, SPATA7, AIPL1
Specificity
89 %
Genes
80 %
Senior-Loken Syndrome: Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SDCCAG8, IQCB1, NPHP4, CEP290, NPHP1, NPHP3, INVS
Specificity
29 %
Genes
10 %
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
15 %
Genes
80 %
Brain Malformations: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RTTN, VLDLR, EOMES, CEP41, KIF7, RPGRIP1L, TMEM138, TMEM237, RAB3GAP2, CHMP1A, TSEN2, TSEN34, EXOSC3, LAMC3, ACTG1, ACTB, CASK, OPHN1, KIF1BP, TUBB2B , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
5 %
Limb Malformation: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

LMBR1, NOG, FMN1, FBXW4, FBLN1, IHH, WNT3, BMP2, TBX3, HDAC4, GDF5, PTHLH, ARHGAP31, HOXD13, LRP4, WNT7A, TBX15, ROR2, ESCO2, MGP , (...)

View the complete list with 26 more genes
Specificity
3 %
Genes
5 %
Neurology: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MAPK10, POC1A, ORC4, ORC6, CDT1, CDC6, NIN, CEP63, KNL1, CEP135, ZNF335, RTTN, DISP1, VLDLR, MYCN, RBBP8, RAB18, EOMES, CEP41, KIF7 , (...)

View the complete list with 144 more genes
Specificity
1 %
Genes
5 %
Skeletal Dysplasia: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SULF1, RASGRP2, KIF22, PAPSS2, LMBR1, NOG, FMN1, FBXW4, FBLN1, IHH, WNT3, BMP2, NPR2, MMP9, MAFB, MMP13, DLX3, DDR2, TBX3, HDAC4 , (...)

View the complete list with 143 more genes
Specificity
2 %
Genes
10 %
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
14 %
Genes
80 %
Congenital Obesity: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

NR0B2, NTRK2, SIM1, GNAS, SDCCAG8, WDPCP, MAGEL2, VPS13B, PHF6, MC4R, POMC, PCSK1, LEPR, LEP, ALMS1, BBS2, BBS1, BBS4, BBS10, BBS9 , (...)

View the complete list with 9 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
14 %
Genes
25 %
Bardet-Biedl Syndrome: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SDCCAG8, WDPCP, LZTFL1, ALMS1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, TRIM32, TTC8, CEP290, MKKS, ARL6
Specificity
6 %
Genes
5 %
Brain Malformations: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RTTN, VLDLR, EOMES, CEP41, KIF7, RPGRIP1L, TMEM138, TMEM237, RAB3GAP2, CHMP1A, TSEN2, TSEN34, EXOSC3, LAMC3, ACTG1, ACTB, CASK, OPHN1, KIF1BP, TUBB2B , (...)

View the complete list with 30 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
17 %
Genes
80 %
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
8 %
Genes
80 %
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
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
17 %
Genes
80 %
Bardet-Biedl Syndrome NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

SDCCAG8, WDPCP, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, TRIM32, TTC8, CEP290, MKKS, ARL6
Specificity
7 %
Genes
5 %
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
12 %
Genes
80 %
Diabetes-Obesity NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

NTRK2, SIM1, EIF2AK3, PTF1A, NEUROG3, GLIS3, RFX6, BDNF, GNAS, SDCCAG8, WDPCP, MAGEL2, FOXP3, HNF4A, PDX1, INS, MC4R, KCNJ11, CEL, ABCC8 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
5 %
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
5 %
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
5 %
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
5 %
Nephronophthisis NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

GLIS2, NEK8, RPGRIP1L, SDCCAG8, IQCB1, NPHP4, CEP290, NPHP1, NPHP3, INVS
Specificity
20 %
Genes
10 %
Senior-Loken Syndrome NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

SDCCAG8, NPHP4, CEP290, NPHP1, NPHP3
Specificity
20 %
Genes
5 %
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
14 %
Genes
60 %
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
6 %
Genes
10 %
Skeletal Dysplasias NGS panel.

By Fulgent Genetics Fulgent Genetics in United States.

SULF1, RASGRP2, KIF22, PAPSS2, LMBR1, NOG, FMN1, FBXW4, FBLN1, IHH, WNT3, BMP2, NPR2, MMP9, MAFB, MMP13, DLX3, DDR2, TBX3, HDAC4 , (...)

View the complete list with 141 more genes
Specificity
2 %
Genes
10 %
CEP290.

By Fulgent Genetics Fulgent Genetics in United States.

CEP290
Specificity
100 %
Genes
5 %
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
5 %
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
2 %
Genes
15 %
Senior-Loken Syndrome Panel.

By Blueprint Genetics in Finland.

TRAF3IP1, SDCCAG8, IQCB1, NPHP4, CEP290, NPHP1, NPHP3, INVS
Specificity
25 %
Genes
10 %
Nephronophthisis Panel.

By Blueprint Genetics in Finland.

MAPKBP1, ANKS6, CEP83, ZNF423, CEP164, IFT172, GLIS2, NEK8, RPGRIP1L, TTC21B, SDCCAG8, WDR19, DCDC2, IQCB1, NPHP4, CEP290, NPHP1, NPHP3, TMEM67, INVS
Specificity
10 %
Genes
10 %
Monogenic Obesity Panel.

By Blueprint Genetics in Finland.

KSR2, ADCY3, MC3R, NR0B2, NTRK2, DYRK1B, SIM1, GNAS, SDCCAG8, WDPCP, MAGEL2, VPS13B, CUL4B, PHF6, MC4R, POMC, PCSK1, LEPR, LEP, ALMS1 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
5 %
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
5 %
Genes
10 %
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
8 %
Genes
95 %
Leber Congenital Amaurosis Panel.

By Blueprint Genetics in Finland.

CWC27, DTHD1, NMNAT1, RDH5, ALMS1, BBS4, CNGA3, MYO7A, LCA5, IQCB1, CABP4, RD3, RDH12, LRAT, MERTK, CRB1, CRX, GUCY2D, IMPDH1, RPE65 , (...)

View the complete list with 6 more genes
Specificity
66 %
Genes
85 %
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
5 %
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
5 %
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
14 %
Genes
75 %
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
4 %
Genes
15 %
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
4 %
Genes
10 %
Bardet-Biedl Syndrome Panel.

By Blueprint Genetics in Finland.

IFT172, SDCCAG8, WDPCP, BBIP1, LZTFL1, PNPLA6, ALMS1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, C8orf37, TRIM32, TTC8, CEP290 , (...)

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

By Blueprint Genetics in Finland.

KIF14, TMEM107, B9D2, RPGRIP1L, TCTN2, B9D1, TMEM231, TMEM216, MKS1, CEP290, NPHP3, TMEM67, CC2D2A
Specificity
8 %
Genes
5 %
Joubert syndrome type 5.

By Bioarray in Spain.

CEP290
Specificity
100 %
Genes
5 %
Leber congenital amaurosis.

By Bioarray in Spain.

CEP290
Specificity
100 %
Genes
5 %
Meckel syndrome type 4.

By Bioarray in Spain.

CEP290
Specificity
100 %
Genes
5 %
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
2 %
Genes
25 %
Cystic Disease and Nephronopthisis Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

BICC1, CRB2, GLIS2, NEK8, RPGRIP1L, TTC21B, SIX5, PKD1, PKD2, UMOD, AHI1, PKHD1, PAX2, IQCB1, XPNPEP3, NPHP4, CEP290, NPHP1, NPHP3, TMEM67 , (...)

View the complete list with 3 more genes
Specificity
9 %
Genes
10 %
BARDET-BIEDL SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, TRIM32, TTC8, CEP290, MKKS, ARL6
Specificity
8 %
Genes
5 %
MECKEL SYNDROME (MECKEL-GRUBER).

By Laboratorio de Genetica Clinica SL in Spain.

RPGRIP1L, TMEM216, MKS1, CEP290, TMEM67, CC2D2A
Specificity
17 %
Genes
5 %
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
5 %
LEBER CONGENITAL AMAUROSIS.

By Laboratorio de Genetica Clinica SL in Spain.

LCA5, RD3, RDH12, LRAT, CRB1, CRX, GUCY2D, IMPDH1, RPE65, RPGRIP1, TULP1, CEP290, KCNJ13, SPATA7, AIPL1
Specificity
100 %
Genes
75 %
SENIOR-LOKEN SYNDROME TYPE 6.

By Laboratorio de Genetica Clinica SL in Spain.

CEP290
Specificity
100 %
Genes
5 %
BARDET-BIEDL SYNDROME (NGS).

By Laboratorio de Genetica Clinica SL in Spain.

SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, TRIM32, TTC8, CEP290, MKKS, ARL6, TMEM67
Specificity
5 %
Genes
5 %
Joubert with Oculorenal Defect Syndrome, Sequencing CEP290 Gene.

By Reference Laboratory Genetics in Spain.

CEP290
Specificity
100 %
Genes
5 %
Leber Congenital Amaurosis Type 10 , Sequencing CEP290 Gene.

By Reference Laboratory Genetics in Spain.

CEP290
Specificity
100 %
Genes
5 %
Meckel Syndrome , Panel Massive Sequencing (NGS) 10 Genes.

By Reference Laboratory Genetics in Spain.

B9D2, RPGRIP1L, TCTN2, B9D1, TMEM216, MKS1, CEP290, NPHP3, TMEM67, CC2D2A
Specificity
10 %
Genes
5 %
Bardet-Biedl Syndrome , Panel Massive Sequencing (NGS) 18 Genes.

By Reference Laboratory Genetics in Spain.

SDCCAG8, WDPCP, BBIP1, LZTFL1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, TRIM32, TTC8, CEP290, MKKS, ARL6
Specificity
6 %
Genes
5 %
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
5 %
Leber Congenital Amaurosis , Panel Massive Sequencong (NGS) 17 Genes.

By Reference Laboratory Genetics in Spain.

NMNAT1, LCA5, IQCB1, RD3, RDH12, LRAT, CRB1, CRX, GUCY2D, IMPDH1, RPE65, RPGRIP1, TULP1, CEP290, KCNJ13, SPATA7, AIPL1
Specificity
100 %
Genes
85 %
Nephronophthisis , Panel Massive Sequencing (NGS) 11 Genes.

By Reference Laboratory Genetics in Spain.

GLIS2, NEK8, RPGRIP1L, SDCCAG8, AHI1, IQCB1, NPHP4, CEP290, NPHP1, NPHP3, INVS
Specificity
19 %
Genes
10 %
Senior-Loken Syndrome , Panel Massive Sequencing (NGS) 7 Genes.

By Reference Laboratory Genetics in Spain.

TRAF3IP1, SDCCAG8, WDR19, IQCB1, NPHP4, CEP290, NPHP1
Specificity
29 %
Genes
10 %
Syndromic Hirschsprung Disease: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

GDNF, BDNF, SDCCAG8, WDPCP, LZTFL1, SOX10, EDNRB, EDN3, ZEB2, KIF1BP, L1CAM, NF1, DHCR7, ELP1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
5 %
GUCY2D Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

GUCY2D
Specificity
100 %
Genes
5 %
GUCY2D Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

GUCY2D
Specificity
100 %
Genes
5 %
GUCY2D Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

GUCY2D
Specificity
100 %
Genes
5 %
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
17 %
Genes
30 %
GUCY2D.

By Institute for Human Genetics University Clinic Freiburg in Germany.

GUCY2D
Specificity
100 %
Genes
5 %
GUCY2D Gene Sequencing.

By GeneDx in United States.

GUCY2D
Specificity
100 %
Genes
5 %
GUCY2D. Complete sequencing.

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

GUCY2D
Specificity
100 %
Genes
5 %
GUCY2D. Detection of the mutations in 837, 838 and 839 codons by sequencing.

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

GUCY2D
Specificity
100 %
Genes
5 %
ABCA4, CRX, GUCY2D. NextGeneDx.Complete sequencing by NGS.

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

CRX, GUCY2D, ABCA4
Specificity
67 %
Genes
10 %
Central areolar choroidal dystrophy (sequence analysis of GUCY2D gene).

By CGC Genetics in Portugal.

GUCY2D
Specificity
100 %
Genes
5 %
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
14 %
Genes
25 %
Leber congenital amaurosis 1 (sequence analysis of GUCY2D gene).

By CGC Genetics in Portugal.

GUCY2D
Specificity
100 %
Genes
5 %
Cone-Rod Dystrophy 6.

By Exeter Molecular Genetics Laboratory in United Kingdom.

GUCY2D
Specificity
100 %
Genes
5 %
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
12 %
Genes
20 %
Leber Congenital Amaurosis 1 (LCA1) and Cone-Rod dystrophy 6 (CORD6) via GUCY2D Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

GUCY2D
Specificity
100 %
Genes
5 %
GUCY2D-Related Leber Congenital Amaurosis.

By Bioscientia GmbH Center for Human Genetics in Germany.

GUCY2D
Specificity
100 %
Genes
5 %
Leber congenital amaurosis type 1.

By Centogene AG - the Rare Disease Company in Germany.

GUCY2D
Specificity
100 %
Genes
5 %
Single gene testing GUCY2D.

By CeGaT GmbH in Germany.

GUCY2D
Specificity
100 %
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
14 %
Genes
20 %
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
13 %
Genes
20 %
GUCY2D single gene sequencing.

By Molecular Vision Laboratory in United States.

GUCY2D
Specificity
100 %
Genes
5 %
Cone-rod dystrophy 6.

By Praxis fuer Humangenetik Wien in Austria.

GUCY2D
Specificity
100 %
Genes
5 %
Leber congenital amaurosis 1.

By Praxis fuer Humangenetik Wien in Austria.

GUCY2D
Specificity
100 %
Genes
5 %
GUCY2D.

By Division Human Genetics Medical University Innsbruck in Austria.

GUCY2D
Specificity
100 %
Genes
5 %
Cone-rod dystrophy 6.

By MedGene in Slovakia.

GUCY2D
Specificity
100 %
Genes
5 %
Leber congenital amaurosis 1.

By MedGene in Slovakia.

GUCY2D
Specificity
100 %
Genes
5 %
Leber congenital amaurosis 1: GUCY2D gene sequence analysis.

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

GUCY2D
Specificity
100 %
Genes
5 %
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
14 %
Genes
20 %
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
18 %
Genes
56 %
Cone-Rod Dystrophy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

CNNM4, RAX2, UNC119, RDH5, PITPNM3, GUCA1A, RIMS1, CERKL, SEMA4A, KCNV2, CACNA2D4, ADAM9, PDE6C, CDHR1, C8orf37, CRX, GUCY2D, PROM1, RPGRIP1, CNGB3 , (...)

View the complete list with 4 more genes
Specificity
17 %
Genes
20 %
GUCY2D.

By Fulgent Genetics Fulgent Genetics in United States.

GUCY2D
Specificity
100 %
Genes
5 %
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
12 %
Genes
25 %
Leber congenital amaurosis type 1.

By Bioarray in Spain.

GUCY2D
Specificity
100 %
Genes
5 %
CONE-ROD DYSTROPHY (AUTOSOMAL DOMINANT).

By Laboratorio de Genetica Clinica SL in Spain.

GUCA1A, CRX, GUCY2D, AIPL1
Specificity
75 %
Genes
15 %
Leber Congenital Amaurosis Type 1, Sequencing GUCY2D Gene.

By Reference Laboratory Genetics in Spain.

GUCY2D
Specificity
100 %
Genes
5 %
Cone Rod Distrophy Type 6 , Sequencing GUCY2D Gene.

By Reference Laboratory Genetics in Spain.

GUCY2D
Specificity
100 %
Genes
5 %
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
14 %
Genes
20 %
Anophthalmia/microphthalmia.

By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet in Denmark.

ALDH1A3, TENM3, PRSS56, GDF3, BMP4, CRYBA4, ALX1, VSX2, FREM1, VAX1, RARB, GJA1, FOXE3, GDF6, GLI3, TFAP2A, COL4A1, PORCN, PAX2, SOX2 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
5 %
GDF6 - Klippel Feil syndrome.

By Centre of Molecular Diseases (CMM) CHUV in Switzerland.

GDF6
Specificity
100 %
Genes
5 %
GDF6. Complete sequencing.

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

GDF6
Specificity
100 %
Genes
5 %
Klippel-Feil syndrome (sequence analysis of GDF6 gene).

By CGC Genetics in Portugal.

GDF6
Specificity
100 %
Genes
5 %
Microphthalmia (NGS panel for 26 genes).

By CGC Genetics in Portugal.

SMOC1, MAB21L2, HMGB3, ALDH1A3, TENM3, PRSS56, GDF3, BMP4, VSX2, FREM1, VAX1, RARB, GDF6, MITF, NAA10, CHD7, SOX2, SIX6, BCOR, HCCS , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
5 %
Klippel-Feil syndrome (NGS panel for 5 genes).

By CGC Genetics in Portugal.

MYO18B, RIPPLY2, MEOX1, GDF3, GDF6
Specificity
20 %
Genes
5 %
Klippel-Feil syndrome (NGS panel for 5 genes).

By CGC Genetics in Portugal.

MYO18B, RIPPLY2, MEOX1, GDF3, GDF6
Specificity
20 %
Genes
5 %
Anophthalmia / Microphthalmia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

BMP7, SMOC1, ALDH1A3, TENM3, BMP4, CRYBA4, VSX2, FOXE3, GDF6, MITF, SOX2, SIX6, BCOR, HCCS, STRA6, OTX2, RAX
Specificity
6 %
Genes
5 %
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TGDS, DDX59, COL27A1, SULF1, NPPC, TXNL4A, TBX4, RASGRP2, KIF22, ADAMTS17, ACAN, PAPSS2, LMBR1, NOG, FMN1, FBXW4, FBLN1, GHSR, TBX6, XYLT1 , (...)

View the complete list with 238 more genes
Specificity
2 %
Genes
15 %
Klippel-Feil Syndrome via the GDF6 Gene.

By PreventionGenetics PreventionGenetics in United States.

GDF6
Specificity
100 %
Genes
5 %
Klippel-Feil syndrome Comprehensive panel.

By Connective Tissue Gene Tests in United States.

MYO18B, RIPPLY2, MEOX1, GDF3, GDF6
Specificity
20 %
Genes
5 %
Klippel-Feil syndrome NGS panel.

By Connective Tissue Gene Tests in United States.

MYO18B, RIPPLY2, MEOX1, GDF3, GDF6
Specificity
20 %
Genes
5 %
Klippel-Feil syndrome Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

MYO18B, RIPPLY2, MEOX1, GDF3, GDF6
Specificity
20 %
Genes
5 %
GDF6 related Klippel-Feil Syndrome.

By MGZ Medical Genetics Center in Germany.

GDF6
Specificity
100 %
Genes
5 %
Eye Diseases - panels.

By MGZ Medical Genetics Center in Germany.

OVOL2, TMEM98, SIPA1L3, SALL2, TMEM114, NDUFB11, JAM3, ADAMTS17, AGBL1, BMP7, HMX1, MIR184, SLC38A8, SMOC1, MAB21L2, CRYGS, PXDN, HSF4, P3H2, BFSP1 , (...)

View the complete list with 147 more genes
Specificity
1 %
Genes
5 %
Microphthalmia-Anophthalmia-Coloboma Complex (MAC).

By MGZ Medical Genetics Center in Germany.

SALL2, HMX1, SMOC1, MAB21L2, ERCC1, ERCC5, C12orf57, FRAS1, FREM2, GRIP1, TBC1D20, ALDH1A3, TENM3, PRSS56, GDF3, BMP4, CRYBA4, VSX2, VAX1, RAB18 , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
5 %
Klippel-Feil syndrome type 1, autosomal dominant.

By Centogene AG - the Rare Disease Company in Germany.

GDF6
Specificity
100 %
Genes
5 %
Leber congenital amaurosis type 17.

By Centogene AG - the Rare Disease Company in Germany.

GDF6
Specificity
100 %
Genes
5 %
Microphthalmia, isolated type 4.

By Centogene AG - the Rare Disease Company in Germany.

GDF6
Specificity
100 %
Genes
5 %
Microphthalmia, isolated type 6.

By Centogene AG - the Rare Disease Company in Germany.

GDF6
Specificity
100 %
Genes
5 %
Klippel-feil syndrome panel.

By Centogene AG - the Rare Disease Company in Germany.

MYO18B, MEOX1, GDF3, GDF6
Specificity
25 %
Genes
5 %
Microphthalmy Panel.

By CeGaT GmbH in Germany.

SMOC1, MAB21L2, HMGB3, ALDH1A3, TENM3, PRSS56, GDF3, BMP4, VSX2, FREM1, VAX1, RARB, RBP4, GDF6, NAA10, CHD7, SOX2, SIX6, BCOR, HCCS , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
5 %
Selected Genetic Syndromes with skeletal involvement Panel.

By CeGaT GmbH in Germany.

TBX3, MEOX1, FGF9, SF3B4, TBCE, FAM111A, POC1A, LARP7, CCDC8, OBSL1, ORC4, ORC6, CDT1, CDC6, ORC1, NIN, CEP63, CUL7, CCNQ, TBX15 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
5 %
Klippel-Feil Syndrome.

By Laboratory of Human Genetics GENOMED Health Care Center in Poland.

PAX1, MEOX1, GDF3, GDF6
Specificity
25 %
Genes
5 %
Anophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis.

By Asper Biogene Asper Biogene LLC in Estonia.

SLC38A8, SMOC1, MAB21L2, HMGB3, ASPH, B3GLCT, ALDH1A3, TENM3, PRSS56, GDF3, BMP4, VSX2, VAX1, RARB, LTBP2, FOXE3, GDF6, COL4A1, CHD7, HESX1 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
5 %
Developmental Eye Disease panel.

By Molecular Vision Laboratory in United States.

DCDC1, LHX2, SNX3, ELP4, TMEM98, COX7B, HMX1, MAB21L2, HMGB3, ATOH7, C12orf57, SLC25A1, B3GLCT, ALDH1A3, TENM3, PRSS56, GDF3, BMP4, VSX2, VAX1 , (...)

View the complete list with 39 more genes
Specificity
4 %
Genes
10 %
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
5 %
Invitae Microphthalmia/Anophthalmia Disorders Panel.

By Invitae in United States.

PXDN, ALDH1A3, PRSS56, BMP4, VSX2, FOXE3, GDF6, PAX2, SOX2, BCOR, STRA6, SHH, OTX2, MFRP, RAX
Specificity
7 %
Genes
5 %
Klippel-Feil syndrome type 1: GDF6 gene sequence analysis.

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

GDF6
Specificity
100 %
Genes
5 %
GDF6.

By Fulgent Genetics Fulgent Genetics in United States.

GDF6
Specificity
100 %
Genes
5 %
Isolated Klippel-Feil syndrome type 1.

By Bioarray in Spain.

GDF6
Specificity
100 %
Genes
5 %
ANOPHTHALMIA/ MICROPHTALMIA: NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

SMOC1, MAB21L2, PXDN, ALDH1A3, TENM3, PRSS56, GDF3, BMP4, CRYBA4, VSX2, RARB, GDF6, NAA10, SOX2, SIX6, BCOR, HCCS, STRA6, SHH, OTX2 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
5 %
KLIPPEL-FEIL SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

PAX1, MYO18B, MEOX1, GDF3, GDF6
Specificity
20 %
Genes
5 %
Klippel-Feil Syndrome Type 1 , Sequencing GDF6 Gene.

By Reference Laboratory Genetics in Spain.

GDF6
Specificity
100 %
Genes
5 %
Klippel-Feil Syndrome , Panel Massive Sequencing (NGS) GDF3, GDF6, MEOX1 Genes.

By Reference Laboratory Genetics in Spain.

MEOX1, GDF3, GDF6
Specificity
34 %
Genes
5 %
Microphthalmia , Panel Massive Sequencing (NGS) 14 Genes.

By Reference Laboratory Genetics in Spain.

GDF3, BMP4, VSX2, VAX1, GDF6, MITF, SOX2, SIX6, BCOR, HCCS, STRA6, OTX2, ABCB6, RAX
Specificity
8 %
Genes
5 %
LRAT Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

LRAT
Specificity
100 %
Genes
5 %
LRAT Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

LRAT
Specificity
100 %
Genes
5 %
LRAT Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

LRAT
Specificity
100 %
Genes
5 %
LRAT Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

LRAT
Specificity
100 %
Genes
5 %
LRAT.

By Institute for Human Genetics University Clinic Freiburg in Germany.

LRAT
Specificity
100 %
Genes
5 %
LRAT. Complete sequencing.

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

LRAT
Specificity
100 %
Genes
5 %
Leber congenital amaurosis (sequence analysis of LRAT gene).

By CGC Genetics in Portugal.

LRAT
Specificity
100 %
Genes
5 %
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
13 %
Genes
45 %
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
14 %
Genes
35 %
Flecked Retina Disorder Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PLA2G5, VPS13B, EFEMP1, RDH5, LRAT, RS1, PROM1, RHO, RLBP1, PRPH2, ABCA4, ELOVL4, CHM
Specificity
8 %
Genes
5 %
Leber congenital amaurosis 14 (LCA14) or Early Onset Retinal Dystrophy (EORD) and Juvenile Retinitis pigmentosa via the LRAT Gene.

By PreventionGenetics PreventionGenetics in United States.

LRAT
Specificity
100 %
Genes
5 %
LRAT-Related Leber Congenital Amaurosis.

By Bioscientia GmbH Center for Human Genetics in Germany.

LRAT
Specificity
100 %
Genes
5 %
Retinitis pigmentosa juvenile.

By Centogene AG - the Rare Disease Company in Germany.

LRAT
Specificity
100 %
Genes
5 %
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
12 %
Genes
35 %
Single gene testing LRAT.

By CeGaT GmbH in Germany.

LRAT
Specificity
100 %
Genes
5 %
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
15 %
Genes
40 %
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
15 %
Genes
30 %
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
15 %
Genes
40 %
LRAT.

By Fulgent Genetics Fulgent Genetics in United States.

LRAT
Specificity
100 %
Genes
5 %
Leber congenital amaurosis type 14.

By Bioarray in Spain.

LRAT
Specificity
100 %
Genes
5 %
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
15 %
Genes
30 %
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
15 %
Genes
40 %
Nonsyndromic Autosomal Recessive retinitis pigmentosa: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

KIAA1549, ADGRA3, TRNT1, IFT172, ARL2BP, NEK2, SLC7A14, KIZ, ZNF408, EMC1, AGBL5, DHX38, IFT140, MVK, POMGNT1, RBP3, NR2E3, MAK, BBS2, BBS1 , (...)

View the complete list with 35 more genes
Specificity
11 %
Genes
30 %
IMPDH1 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

IMPDH1
Specificity
100 %
Genes
5 %
IMPDH1 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

IMPDH1
Specificity
100 %
Genes
5 %
IMPDH1 Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

IMPDH1
Specificity
100 %
Genes
5 %
IMPDH1 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

IMPDH1
Specificity
100 %
Genes
5 %
IMPDH1.

By Institute for Human Genetics University Clinic Freiburg in Germany.

IMPDH1
Specificity
100 %
Genes
5 %
IMPDH1. Complete sequencing.

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

IMPDH1
Specificity
100 %
Genes
5 %
IMPDH1. Detection of the mutation p.Asp226Asn by sequencing.

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

IMPDH1
Specificity
100 %
Genes
5 %
Retinitis pigmentosa 10 (sequence analysis of IMPDH1 gene).

By CGC Genetics in Portugal.

IMPDH1
Specificity
100 %
Genes
5 %
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
15 %
Genes
20 %
Leber congenital amaurosis 11 (sequence analysis of IMPDH1 gene).

By CGC Genetics in Portugal.

IMPDH1
Specificity
100 %
Genes
5 %
Leber congenital amaurosis 11 (sequence analysis of IMPDH1 gene).

By CGC Genetics in Portugal.

IMPDH1
Specificity
100 %
Genes
5 %
Retinitis Pigmentosa via IMPDH1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

IMPDH1
Specificity
100 %
Genes
5 %
Autosomal Dominant Retinitis Pigmentosa Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

EMC1, ROM1, PRPF3, NR2E3, PRPF8, PRPF31, CA4, PITPNM3, EYS, LCA5, C1QTNF5, FSCN2, TOPORS, SEMA4A, SNRNP200, KLHL7, NRL, GUCA1B, PRPF6, CRB1 , (...)

View the complete list with 9 more genes
Specificity
18 %
Genes
25 %
IMPDH1-Related Retinitis Pigmentosa.

By Bioscientia GmbH Center for Human Genetics in Germany.

IMPDH1
Specificity
100 %
Genes
5 %
IMPDH1-Related Leber Congenital Amaurosis.

By Bioscientia GmbH Center for Human Genetics in Germany.

IMPDH1
Specificity
100 %
Genes
5 %
Retinitis pigmentosa type 10, autosomal dominant.

By Centogene AG - the Rare Disease Company in Germany.

IMPDH1
Specificity
100 %
Genes
5 %
Leber congenital amaurosis type 11.

By Centogene AG - the Rare Disease Company in Germany.

IMPDH1
Specificity
100 %
Genes
5 %
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
14 %
Genes
20 %
Autosomal Dominant Retinitis Pigmentosa.

By Asper Biogene Asper Biogene LLC in Estonia.

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

View the complete list with 6 more genes
Specificity
20 %
Genes
25 %
Retinitis pigmentosa.

By VECMD VECMD in Mexico.

BBIP1, PRPF8, PRPF31, CA4, CRB1, IMPDH1, RPE65, TULP1
Specificity
50 %
Genes
20 %
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
15 %
Genes
20 %
IMPDH1.

By Fulgent Genetics Fulgent Genetics in United States.

IMPDH1
Specificity
100 %
Genes
5 %
Leber congenital amaurosis.

By Bioarray in Spain.

IMPDH1
Specificity
100 %
Genes
5 %
RETINITIS PIGMENTOSA (AUTOSOMAL DOMINANT).

By Laboratorio de Genetica Clinica SL in Spain.

PRPF3, PRPF31, IMPDH1, RHO, PRPH2, RP1
Specificity
17 %
Genes
5 %
Retinitis Pigmentosa, Sequencing IMPDH1 Gene.

By Reference Laboratory Genetics in Spain.

IMPDH1
Specificity
100 %
Genes
5 %
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
15 %
Genes
20 %
Nonsyndromic Autosomal Dominant Retinitis Pigmentosa: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

ARL3, SPP2, ROM1, PRPF3, NR2E3, RP9, HK1, PRPF8, PRPF31, CA4, FSCN2, TOPORS, SEMA4A, SNRNP200, RDH12, KLHL7, NRL, GUCA1B, PRPF6, CRX , (...)

View the complete list with 6 more genes
Specificity
16 %
Genes
20 %
NMNAT1 Familial Mutation/Variant Analysis.

By Baylor Miraca Genetics Laboratories in United States.

NMNAT1
Specificity
100 %
Genes
5 %
NMNAT1 Prenatal Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

NMNAT1
Specificity
100 %
Genes
5 %
NMNAT1 Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

NMNAT1
Specificity
100 %
Genes
5 %
NMNAT1.

By Institute for Human Genetics University Clinic Freiburg in Germany.

NMNAT1
Specificity
100 %
Genes
5 %
Leber congenital amaurosis 9 (LCA9, sequence analysis of NMNAT1 gene).

By CGC Genetics in Portugal.

NMNAT1
Specificity
100 %
Genes
5 %
Leber congenital amaurosis type 9.

By Centogene AG - the Rare Disease Company in Germany.

NMNAT1
Specificity
100 %
Genes
5 %
NMNAT1.

By Fulgent Genetics Fulgent Genetics in United States.

NMNAT1
Specificity
100 %
Genes
5 %
LCA5 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

LCA5
Specificity
100 %
Genes
5 %
LCA5 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

LCA5
Specificity
100 %
Genes
5 %
LCA5 Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

LCA5
Specificity
100 %
Genes
5 %
LCA5 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

LCA5
Specificity
100 %
Genes
5 %
LCA5.

By Institute for Human Genetics University Clinic Freiburg in Germany.

LCA5
Specificity
100 %
Genes
5 %
Leber congenital amaurosis 5 (LCA5, sequence analysis of LCA5 gene).

By CGC Genetics in Portugal.

LCA5
Specificity
100 %
Genes
5 %
Leber congenital amaurosis (deletion/duplication analysis on AIPL1, CRB1, CRX, LCA5 and RPE65 genes).

By CGC Genetics in Portugal.

LCA5, CRB1, CRX, RPE65, AIPL1
Specificity
100 %
Genes
25 %
Leber congenital amaurosis (deletion/duplication analysis on AIPL1, CRB1, CRX, LCA5 and RPE65 genes).

By CGC Genetics in Portugal.

LCA5, CRB1, CRX, RPE65, AIPL1
Specificity
100 %
Genes
25 %
LCA5-Related Leber Congenital Amaurosis.

By Bioscientia GmbH Center for Human Genetics in Germany.

LCA5
Specificity
100 %
Genes
5 %
Leber congenital amaurosis type 5.

By Centogene AG - the Rare Disease Company in Germany.

LCA5
Specificity
100 %
Genes
5 %
Ashkenazi Jewish diseases.

By Asper Biogene Asper Biogene LLC in Estonia.

F11, MEFV, CYP21A2, LRRK2, TOR1A, TMEM216, ABCC8, MCOLN1, SERPINA1, NEB, FKTN, SMN1, LDLR, GJB2, BLM, GBA, FANCC, CFTR, ELP1, ASPA , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
5 %
Ashkenazi Jewish Panel.

By Molecular Vision Laboratory in United States.

MAK, LCA5, CACNA2D4, TRPM1, FAM161A, DHDDS, PCDH15, CLRN1
Specificity
13 %
Genes
5 %
LCA5.

By Fulgent Genetics Fulgent Genetics in United States.

LCA5
Specificity
100 %
Genes
5 %
CRX Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

CRX
Specificity
100 %
Genes
5 %
CRX Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

CRX
Specificity
100 %
Genes
5 %
CRX Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

CRX
Specificity
100 %
Genes
5 %
CRX Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

CRX
Specificity
100 %
Genes
5 %
CRX.

By Institute for Human Genetics University Clinic Freiburg in Germany.

CRX
Specificity
100 %
Genes
5 %
GUCA1A Gene Sequencing.

By GeneDx in United States.

CRX
Specificity
100 %
Genes
5 %
CRX Gene Sequencing.

By GeneDx in United States.

CRX
Specificity
100 %
Genes
5 %
GUCY2D Select Exons Sequencing.

By GeneDx in United States.

CRX
Specificity
100 %
Genes
5 %
CRX. Complete sequencing.

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

CRX
Specificity
100 %
Genes
5 %
Leber congenital amaurosis 7 (sequence analysis of CRX gene).

By CGC Genetics in Portugal.

CRX
Specificity
100 %
Genes
5 %
Leber Congenital Amaurosis via the CRX Gene.

By PreventionGenetics PreventionGenetics in United States.

CRX
Specificity
100 %
Genes
5 %
CRX-Related Leber Congenital Amaurosis.

By Bioscientia GmbH Center for Human Genetics in Germany.

CRX
Specificity
100 %
Genes
5 %
Leber congenital amaurosis type 7.

By Centogene AG - the Rare Disease Company in Germany.

CRX
Specificity
100 %
Genes
5 %
Cone-rod dystrophy type 2.

By Centogene AG - the Rare Disease Company in Germany.

CRX
Specificity
100 %
Genes
5 %
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
14 %
Genes
15 %
Single gene testing CRX.

By CeGaT GmbH in Germany.

CRX
Specificity
100 %
Genes
5 %
CRX single gene sequencing.

By Molecular Vision Laboratory in United States.

CRX
Specificity
100 %
Genes
5 %
Cone-Rod dystrophy type 2 (Leber congenital amaurosis): CRX gene sequence analysis.

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

CRX
Specificity
100 %
Genes
5 %
CRX.

By Fulgent Genetics Fulgent Genetics in United States.

CRX
Specificity
100 %
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
12 %
Genes
15 %
Cone-Rod Dystrophy Type 2 , Sequencing CRX Gene.

By Reference Laboratory Genetics in Spain.

CRX
Specificity
100 %
Genes
5 %
KCNJ13 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

KCNJ13
Specificity
100 %
Genes
5 %
KCNJ13 Familial Mutation/Variant Analysis.

By Baylor Miraca Genetics Laboratories in United States.

KCNJ13
Specificity
100 %
Genes
5 %
KCNJ13 Prenatal Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

KCNJ13
Specificity
100 %
Genes
5 %
KCNJ13 Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

KCNJ13
Specificity
100 %
Genes
5 %
KCNJ13 Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

KCNJ13
Specificity
100 %
Genes
5 %
Leber congenital amaurosis 16 (LCA16, sequence analysis of KCNJ13 gene).

By CGC Genetics in Portugal.

KCNJ13
Specificity
100 %
Genes
5 %
Vitreoretinopathy Comprehensive panel.

By Connective Tissue Gene Tests in United States.

CAPN5, VCAN, COL18A1, KIF11, ZNF408, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, NR2E3, FZD4, TSPAN12, RS1, KCNJ13, NDP, COL2A1, LRP5, BEST1
Specificity
6 %
Genes
5 %
Vitreoretinopathy Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

CAPN5, VCAN, COL18A1, KIF11, ZNF408, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, NR2E3, FZD4, TSPAN12, RS1, KCNJ13, NDP, COL2A1, LRP5, BEST1
Specificity
6 %
Genes
5 %
Vitreoretinopathy NGS panel.

By Connective Tissue Gene Tests in United States.

CAPN5, VCAN, COL18A1, KIF11, ZNF408, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, NR2E3, FZD4, TSPAN12, RS1, KCNJ13, NDP, COL2A1, LRP5, BEST1
Specificity
6 %
Genes
5 %
Leber congenital amaurosis type 16.

By Centogene AG - the Rare Disease Company in Germany.

KCNJ13
Specificity
100 %
Genes
5 %
Vitreoretinopathy.

By Asper Biogene Asper Biogene LLC in Estonia.

NDP-AS1, CAPN5, VCAN, COL18A1, KIF11, ZNF408, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, NR2E3, FZD4, TSPAN12, RS1, KCNJ13, COL2A1, LRP5, BEST1
Specificity
6 %
Genes
5 %
Vitreoretinopathy panel.

By Molecular Vision Laboratory in United States.

CAPN5, ATOH7, VCAN, COL18A1, KIF11, ZNF408, COL11A2, COL11A1, COL9A2, COL9A1, COL4A5, COL4A4, COL4A3, FZD4, TSPAN12, KCNJ13, NDP, COL2A1, LRP5
Specificity
6 %
Genes
5 %
Vitreoretinopathy: Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

VCAN, COL11A1, COL9A1, FZD4, TSPAN12, KCNJ13, NDP, COL2A1, LRP5
Specificity
12 %
Genes
5 %
KCNJ13.

By Fulgent Genetics Fulgent Genetics in United States.

KCNJ13
Specificity
100 %
Genes
5 %
Vitreoretinopathy Panel.

By Blueprint Genetics in Finland.

CAPN5, P3H2, ATOH7, VCAN, COL18A1, CTC1, KIF11, ZNF408, CTNNB1, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, NR2E3, FZD4, TSPAN12, RS1, KCNJ13, NDP , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
5 %
RPE65 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

RPE65
Specificity
100 %
Genes
5 %
RPE65 Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

RPE65
Specificity
100 %
Genes
5 %
RPE65 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

RPE65
Specificity
100 %
Genes
5 %
RPE65 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

RPE65
Specificity
100 %
Genes
5 %
Leber congenital amaurosis 2; RPE65.

By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet in Denmark.

RPE65
Specificity
100 %
Genes
5 %
RPE65.

By Institute for Human Genetics University Clinic Freiburg in Germany.

RPE65
Specificity
100 %
Genes
5 %
RPE65 Gene Sequencing.

By GeneDx in United States.

RPE65
Specificity
100 %
Genes
5 %
RPE65 mutation analysis.

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

RPE65
Specificity
100 %
Genes
5 %
RPE65. Complete sequencing.

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

RPE65
Specificity
100 %
Genes
5 %
RPE65. Complete sequencing.

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

RPE65
Specificity
100 %
Genes
5 %
Leber congenital amaurosis (sequence analysis of RPE65 gene).

By CGC Genetics in Portugal.

RPE65
Specificity
100 %
Genes
5 %
Congenital Stationary Night Blindness Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

GPR179, LRIT3, RDH5, GRM6, NYX, CABP4, GNAT1, CACNA2D4, TRPM1, SLC24A1, PDE6B, RHO, RPE65, SAG, CACNA1F, CHM
Specificity
7 %
Genes
5 %
RPE65-Associated Disorders via RPE65 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

RPE65
Specificity
100 %
Genes
5 %
RPE65-Related Retinitis Pigmentosa.

By Bioscientia GmbH Center for Human Genetics in Germany.

RPE65
Specificity
100 %
Genes
5 %
RPE65-Related Leber Congenital Amaurosis.

By Bioscientia GmbH Center for Human Genetics in Germany.

RPE65
Specificity
100 %
Genes
5 %
Retinitis pigmentosa type 20, autosomal recessive.

By Centogene AG - the Rare Disease Company in Germany.

RPE65
Specificity
100 %
Genes
5 %
Single gene testing RPE65.

By CeGaT GmbH in Germany.

RPE65
Specificity
100 %
Genes
5 %
RPE65, sequencing.

By Molecular Diagnostics Laboratory Seoul National University Hospital in South Korea.

RPE65
Specificity
100 %
Genes
5 %
Leber congenital amaurosis 2: RPE65 gene sequence analysis.

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

RPE65
Specificity
100 %
Genes
5 %
Retinitis pigmentosa: RPE65 gene sequence analysis.

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

RPE65
Specificity
100 %
Genes
5 %
RPE65.

By Fulgent Genetics Fulgent Genetics in United States.

RPE65
Specificity
100 %
Genes
5 %
Congenital Stationary Night Blindness Panel.

By Blueprint Genetics in Finland.

GPR179, LRIT3, RDH5, CYP4V2, GRM6, NYX, CABP4, GNAT1, CACNA2D4, TRPM1, GRK1, PDE6B, RHO, RLBP1, RPE65, SAG, CACNA1F
Specificity
6 %
Genes
5 %
Retinitis pigmentosa autosomal recessive.

By Bioarray in Spain.

RPE65
Specificity
100 %
Genes
5 %
Leber congenital amaurosis type 2.

By Bioarray in Spain.

RPE65
Specificity
100 %
Genes
5 %
RETINITIS PIGMENTOSA (AUTOSOMAL RECESSIVE).

By Laboratorio de Genetica Clinica SL in Spain.

EYS, CERKL, PDE6A, CRB1, PDE6B, RPE65, SAG, USH2A, ABCA4
Specificity
23 %
Genes
10 %
Leber Congenital Amaurosis Type 2, Sequencing RPE65 Gene.

By Reference Laboratory Genetics in Spain.

RPE65
Specificity
100 %
Genes
5 %
Retinitis Pigmentosa, Sequencing RPE65 Gene.

By Reference Laboratory Genetics in Spain.

RPE65
Specificity
100 %
Genes
5 %
RPGRIP1 Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

RPGRIP1
Specificity
100 %
Genes
5 %
RPGRIP1 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

RPGRIP1
Specificity
100 %
Genes
5 %
RPGRIP1 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

RPGRIP1
Specificity
100 %
Genes
5 %
RPGRIP1 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

RPGRIP1
Specificity
100 %
Genes
5 %
RPGRIP1.

By Institute for Human Genetics University Clinic Freiburg in Germany.

RPGRIP1
Specificity
100 %
Genes
5 %
Leber congenital amaurosis type 6 (sequence analysis of RPGRIP1 gene).

By CGC Genetics in Portugal.

RPGRIP1
Specificity
100 %
Genes
5 %
RPGRIP1-Related Retinal Disorders via the RPGRIP1 Gene.

By PreventionGenetics PreventionGenetics in United States.

RPGRIP1
Specificity
100 %
Genes
5 %
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
14 %
Genes
15 %
RPGRIP1-Related Leber Congenital Amaurosis.

By Bioscientia GmbH Center for Human Genetics in Germany.

RPGRIP1
Specificity
100 %
Genes
5 %
Leber congenital amaurosis type 6.

By Centogene AG - the Rare Disease Company in Germany.

RPGRIP1
Specificity
100 %
Genes
5 %
Cone-rod dystrophy type 13.

By Centogene AG - the Rare Disease Company in Germany.

RPGRIP1
Specificity
100 %
Genes
5 %
Glaucoma.

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

OLFM2, LOXL1, NTF4, OPTC, COL8A2, WDR36, PRSS56, VSX2, SH3PXD2B, LTBP2, ASB10, MYOC, RPGRIP1, CYP1B1, MFRP, FOXC1, OPA1, OPTN, PAX6
Specificity
6 %
Genes
5 %
Glaucoma (Advance).

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

OLFM2, LOXL1, NTF4, OPTC, COL8A2, COL18A1, WDR36, PRSS56, VSX2, SH3PXD2B, SLC4A4, LTBP2, ASB10, ACVR1, CANT1, ISPD, POMT1, SBF2, RPS19, MYOC , (...)

View the complete list with 14 more genes
Specificity
3 %
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
14 %
Genes
10 %
RPGRIP1.

By Fulgent Genetics Fulgent Genetics in United States.

RPGRIP1
Specificity
100 %
Genes
5 %
Glaucoma , Panel Massive Sequencing (NGS) 17 Genes.

By Reference Laboratory Genetics in Spain.

LOXL1, NTF4, COL8A2, WDR36, PRSS56, VSX2, SH3PXD2B, LTBP2, ASB10, MYOC, RPGRIP1, CYP1B1, MFRP, FOXC1, OPA1, OPTN, PAX6
Specificity
6 %
Genes
5 %
CRB1 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

CRB1
Specificity
100 %
Genes
5 %
CRB1 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

CRB1
Specificity
100 %
Genes
5 %
CRB1 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

CRB1
Specificity
100 %
Genes
5 %
CRB1 Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

CRB1
Specificity
100 %
Genes
5 %
CRB1.

By Institute for Human Genetics University Clinic Freiburg in Germany.

CRB1
Specificity
100 %
Genes
5 %
CRB1 Gene Sequencing.

By GeneDx in United States.

CRB1
Specificity
100 %
Genes
5 %
CRB1 mutation analysis.

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

CRB1
Specificity
100 %
Genes
5 %
CRB1. Complete sequencing.

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

CRB1
Specificity
100 %
Genes
5 %
Retinitis pigmentosa 12 (sequence analysis of CRB1 gene).

By CGC Genetics in Portugal.

CRB1
Specificity
100 %
Genes
5 %
Leber congenital amaurosis type 8 (sequence analysis of CRB1 gene).

By CGC Genetics in Portugal.

CRB1
Specificity
100 %
Genes
5 %
Leber Congenital Amaurosis and Retinitis Pigmentosa via CRB1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CRB1
Specificity
100 %
Genes
5 %
CRB1-Related Retinitis Pigmentosa.

By Bioscientia GmbH Center for Human Genetics in Germany.

CRB1
Specificity
100 %
Genes
5 %
CRB1-Related Leber Congenital Amaurosis.

By Bioscientia GmbH Center for Human Genetics in Germany.

CRB1
Specificity
100 %
Genes
5 %
Retinitis pigmentosa type 12, autosomal recessive.

By Centogene AG - the Rare Disease Company in Germany.

CRB1
Specificity
100 %
Genes
5 %
Single gene testing CRB1.

By CeGaT GmbH in Germany.

CRB1
Specificity
100 %
Genes
5 %
CRB1.

By Division Human Genetics Medical University Innsbruck in Austria.

CRB1
Specificity
100 %
Genes
5 %
CRB1.

By Fulgent Genetics Fulgent Genetics in United States.

CRB1
Specificity
100 %
Genes
5 %
Leber congenital amaurosis.

By Bioarray in Spain.

CRB1
Specificity
100 %
Genes
5 %
Retinitis Pigmentosa, Sequencing CRB1 Gene.

By Reference Laboratory Genetics in Spain.

CRB1
Specificity
100 %
Genes
5 %
IQCB1 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

IQCB1
Specificity
100 %
Genes
5 %
IQCB1 Familial Mutation/Variant Analysis.

By Baylor Miraca Genetics Laboratories in United States.

IQCB1
Specificity
100 %
Genes
5 %
IQCB1 Prenatal Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

IQCB1
Specificity
100 %
Genes
5 %
IQCB1 Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

IQCB1
Specificity
100 %
Genes
5 %
IQCB1 Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

IQCB1
Specificity
100 %
Genes
5 %
Senior-Loken syndrome 5 (sequence analysis of IQCB1 gene).

By CGC Genetics in Portugal.

IQCB1
Specificity
100 %
Genes
5 %
Test for Senior-Loken Syndrome 5.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

IQCB1
Specificity
100 %
Genes
5 %
Test for Senior-Loken Syndrome 5.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

IQCB1
Specificity
100 %
Genes
5 %
Nephronophthisis and Senior-Loken Syndrome via the IQCB1/NPHP5 Gene.

By PreventionGenetics PreventionGenetics in United States.

IQCB1
Specificity
100 %
Genes
5 %
Senior-Loken syndrome type 5.

By Centogene AG - the Rare Disease Company in Germany.

IQCB1
Specificity
100 %
Genes
5 %
IQCB1.

By Fulgent Genetics Fulgent Genetics in United States.

IQCB1
Specificity
100 %
Genes
5 %
SENIOR-LOKEN SYNDROME TYPE 5.

By Laboratorio de Genetica Clinica SL in Spain.

IQCB1
Specificity
100 %
Genes
5 %
RDH12 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

RDH12
Specificity
100 %
Genes
5 %
RDH12 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

RDH12
Specificity
100 %
Genes
5 %
RDH12 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

RDH12
Specificity
100 %
Genes
5 %
RDH12 Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

RDH12
Specificity
100 %
Genes
5 %
RDH12.

By Institute for Human Genetics University Clinic Freiburg in Germany.

RDH12
Specificity
100 %
Genes
5 %
RDH12. Complete sequencing.

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

RDH12
Specificity
100 %
Genes
5 %
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
5 %
Leber congenital amaurosis 13 (sequence analysis of RDH12 gene).

By CGC Genetics in Portugal.

RDH12
Specificity
100 %
Genes
5 %
Leber Congenital Amaurosis 13 (LCA13), Retinitis Pigmentosa 53 (RP53) and Early Onset Cone-Rod Dystrophy (CORD) via the RDH12 Gene.

By PreventionGenetics PreventionGenetics in United States.

RDH12
Specificity
100 %
Genes
5 %
RDH12-Related Retinitis Pigmentosa.

By Bioscientia GmbH Center for Human Genetics in Germany.

RDH12
Specificity
100 %
Genes
5 %
RDH12-Related Leber Congenital Amaurosis.

By Bioscientia GmbH Center for Human Genetics in Germany.

RDH12
Specificity
100 %
Genes
5 %
Retinitis pigmentosa type 53, autosomal recessive.

By Centogene AG - the Rare Disease Company in Germany.

RDH12
Specificity
100 %
Genes
5 %
RDH12.

By Division Human Genetics Medical University Innsbruck in Austria.

RDH12
Specificity
100 %
Genes
5 %
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
5 %
RDH12.

By Fulgent Genetics Fulgent Genetics in United States.

RDH12
Specificity
100 %
Genes
5 %
Leber congenital amaurosis type 13.

By Bioarray in Spain.

RDH12
Specificity
100 %
Genes
5 %
Stargardt Disease , Panel Massive Sequencing (NGS) 12 Genes.

By Reference Laboratory Genetics in Spain.

CDH3, TIMP3, C1QTNF5, FSCN2, RDH12, RP1L1, PROM1, PRPH2, CNGB3, ABCA4, ELOVL4, BEST1
Specificity
9 %
Genes
5 %
Lipodystrophies (NGS panel for 17 genes).

By CGC Genetics in Portugal.

PCYT1A, AGPAT2, PLIN1, CIDEC, TBC1D4, LIPE, PIK3R1, AKT2, PSMB8, ZMPSTE24, CAV1, LMNB2, BSCL2, LMNA, CAVIN1, FBN1, PPARG
Specificity
6 %
Genes
5 %
Lipodystrophies and progeroid syndromes (NGS panel for 25 genes).

By CGC Genetics in Portugal.

BANF1, SPRTN, PCYT1A, WRN, AGPAT2, KCNJ6, PLIN1, CIDEC, TBC1D4, LIPE, PIK3R1, ERCC8, AKT2, POLD1, ERCC6, PSMB8, ZMPSTE24, CAV1, LMNB2, BSCL2 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
5 %
Lipodystrophies (NGS panel for 17 genes).

By CGC Genetics in Portugal.

PCYT1A, AGPAT2, PLIN1, CIDEC, TBC1D4, LIPE, PIK3R1, AKT2, PSMB8, ZMPSTE24, CAV1, LMNB2, BSCL2, LMNA, CAVIN1, FBN1, PPARG
Specificity
6 %
Genes
5 %
Lipodystrophies and progeroid syndromes (NGS panel for 25 genes).

By CGC Genetics in Portugal.

BANF1, SPRTN, PCYT1A, WRN, AGPAT2, KCNJ6, PLIN1, CIDEC, TBC1D4, LIPE, PIK3R1, ERCC8, AKT2, POLD1, ERCC6, PSMB8, ZMPSTE24, CAV1, LMNB2, BSCL2 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
5 %
Spondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

RSPRY1, PAM16, LONP1, NANS, KIF22, ACAN, FN1, PAPSS2, XYLT1, GPX4, IHH, NPR2, PCYT1A, MMP9, INPPL1, MMP13, DDR2, MATN3, TRAPPC2, RAB33B , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
5 %
Spondylo-Epi-Metaphyseal dysplasias Comprehensive panel.

By Connective Tissue Gene Tests in United States.

RSPRY1, PAM16, LONP1, NANS, KIF22, ACAN, FN1, PAPSS2, XYLT1, GPX4, IHH, NPR2, PCYT1A, MMP9, INPPL1, MMP13, DDR2, MATN3, TRAPPC2, RAB33B , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
5 %
Spondylo-Epi-Metaphyseal dysplasias NGS panel.

By Connective Tissue Gene Tests in United States.

RSPRY1, PAM16, LONP1, NANS, KIF22, ACAN, FN1, PAPSS2, XYLT1, GPX4, IHH, NPR2, PCYT1A, MMP9, INPPL1, MMP13, DDR2, MATN3, TRAPPC2, RAB33B , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
5 %
Spondylometaphyseal dysplasia and Spondylo-epi-(meta)-physeal dysplasia Panel.

By CeGaT GmbH in Germany.

POP1, KIF22, PAPSS2, XYLT1, PCYT1A, MMP13, DDR2, MATN3, TRAPPC2, RAB33B, ACP5, NKX3-2, IMPAD1, CHST3, WISP3, SMARCAL1, EIF2AK3, B3GALT6, DYM, CANT1 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
5 %
PCYT1A.

By Fulgent Genetics Fulgent Genetics in United States.

PCYT1A
Specificity
100 %
Genes
5 %
Spondylometaphyseal / Spondyloepi-(meta)-physeal Dysplasia Panel.

By Blueprint Genetics in Finland.

LONP1, KIF22, ACAN, PAPSS2, PCYT1A, INPPL1, MMP13, DDR2, MATN3, TRAPPC2, RAB33B, ACP5, NKX3-2, CHST3, WISP3, SMARCAL1, EIF2AK3, B3GALT6, BGN, DYM , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
5 %
Comprehensive Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

CKAP2L, LONP1, NANS, EXTL3, DLL4, TBX4, KIF22, ADAMTS17, ACAN, PAPSS2, NOG, ENAM, TBX6, DVL1, LTBP3, XYLT1, IHH, BHLHA9, WDR34, FAM83H , (...)

View the complete list with 226 more genes
Specificity
1 %
Genes
10 %
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

IRS1, CKAP2L, LONP1, NANS, EXTL3, DLL4, TBX4, KIF22, ADAMTS17, ACAN, PAPSS2, NOG, ENAM, TBX6, DVL1, LTBP3, XYLT1, IHH, IGFALS, BHLHA9 , (...)

View the complete list with 288 more genes
Specificity
1 %
Genes
10 %
RD3 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

RD3
Specificity
100 %
Genes
5 %
RD3 Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

RD3
Specificity
100 %
Genes
5 %
RD3 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

RD3
Specificity
100 %
Genes
5 %
RD3 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

RD3
Specificity
100 %
Genes
5 %
Leber congenital amaurosis 12 (LCA12, sequence analysis of RD3 gene).

By CGC Genetics in Portugal.

RD3
Specificity
100 %
Genes
5 %
RD3-Related Leber Congenital Amaurosis.

By Bioscientia GmbH Center for Human Genetics in Germany.

RD3
Specificity
100 %
Genes
5 %
Leber congenital amaurosis type 12.

By Centogene AG - the Rare Disease Company in Germany.

RD3
Specificity
100 %
Genes
5 %
Leber congenital amaurosis type 12.

By Centogene AG - the Rare Disease Company in Germany.

RD3
Specificity
100 %
Genes
5 %
RD3.

By Fulgent Genetics Fulgent Genetics in United States.

RD3
Specificity
100 %
Genes
5 %
SPATA7 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

SPATA7
Specificity
100 %
Genes
5 %
SPATA7 Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

SPATA7
Specificity
100 %
Genes
5 %
SPATA7 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

SPATA7
Specificity
100 %
Genes
5 %
SPATA7 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

SPATA7
Specificity
100 %
Genes
5 %
SPATA7.

By Institute for Human Genetics University Clinic Freiburg in Germany.

SPATA7
Specificity
100 %
Genes
5 %
Leber congenital amaurosis 3 (LCA3, sequence analysis of SPATA7 gene).

By CGC Genetics in Portugal.

SPATA7
Specificity
100 %
Genes
5 %
SPATA7-Related Leber Congenital Amaurosis.

By Bioscientia GmbH Center for Human Genetics in Germany.

SPATA7
Specificity
100 %
Genes
5 %
Leber congenital amaurosis type 3.

By Centogene AG - the Rare Disease Company in Germany.

SPATA7
Specificity
100 %
Genes
5 %
Retinitis pigmentosa, juvenile, autosomal recessive.

By Centogene AG - the Rare Disease Company in Germany.

SPATA7
Specificity
100 %
Genes
5 %
SPATA7.

By Fulgent Genetics Fulgent Genetics in United States.

SPATA7
Specificity
100 %
Genes
5 %
AIPL1 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

AIPL1
Specificity
100 %
Genes
5 %
AIPL1 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

AIPL1
Specificity
100 %
Genes
5 %
AIPL1 Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

AIPL1
Specificity
100 %
Genes
5 %
AIPL1 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

AIPL1
Specificity
100 %
Genes
5 %
AIPL1.

By Institute for Human Genetics University Clinic Freiburg in Germany.

AIPL1
Specificity
100 %
Genes
5 %
Cone-rod dystrophy (sequence analysis of AIPL1 gene).

By CGC Genetics in Portugal.

AIPL1
Specificity
100 %
Genes
5 %
Retinitis pigmentosa, juvenile (sequence analysis of AIPL1 gene).

By CGC Genetics in Portugal.

AIPL1
Specificity
100 %
Genes
5 %
Retinitis pigmentosa, juvenile (sequence analysis of AIPL1 gene).

By CGC Genetics in Portugal.

AIPL1
Specificity
100 %
Genes
5 %
Leber Congenital Amaurosis 4 (LCA4) via AIPL1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

AIPL1
Specificity
100 %
Genes
5 %
AIPL1-Related Leber Congenital Amaurosis.

By Bioscientia GmbH Center for Human Genetics in Germany.

AIPL1
Specificity
100 %
Genes
5 %
Cone-rod dystrophy.

By Centogene AG - the Rare Disease Company in Germany.

AIPL1
Specificity
100 %
Genes
5 %
Single gene testing AIPL1.

By CeGaT GmbH in Germany.

AIPL1
Specificity
100 %
Genes
5 %
AIPL1 single-gene sequencing .

By Molecular Vision Laboratory in United States.

AIPL1
Specificity
100 %
Genes
5 %
AIPL1.

By Fulgent Genetics Fulgent Genetics in United States.

AIPL1
Specificity
100 %
Genes
5 %
TULP1 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

TULP1
Specificity
100 %
Genes
5 %
TULP1 Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

TULP1
Specificity
100 %
Genes
5 %
TULP1 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

TULP1
Specificity
100 %
Genes
5 %
TULP1 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

TULP1
Specificity
100 %
Genes
5 %
TULP1.

By Institute for Human Genetics University Clinic Freiburg in Germany.

TULP1
Specificity
100 %
Genes
5 %
Retinitis pigmentosa 14, AR (sequence analysis of TULP1 gene).

By CGC Genetics in Portugal.

TULP1
Specificity
100 %
Genes
5 %
Retinitis pigmentosa 14, AR (deletion/duplication analysis on TULP1 gene).

By CGC Genetics in Portugal.

TULP1
Specificity
100 %
Genes
5 %
Retinitis pigmentosa 14, AR (deletion/duplication analysis on TULP1 gene).

By CGC Genetics in Portugal.

TULP1
Specificity
100 %
Genes
5 %
TULP1-Associated Disorders via TULP1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TULP1
Specificity
100 %
Genes
5 %
TULP1-Related Retinitis Pigmentosa.

By Bioscientia GmbH Center for Human Genetics in Germany.

TULP1
Specificity
100 %
Genes
5 %
Retinitis pigmentosa type 14, autosomal recessive.

By Centogene AG - the Rare Disease Company in Germany.

TULP1
Specificity
100 %
Genes
5 %
Single gene testing TUPL1.

By CeGaT GmbH in Germany.

TULP1
Specificity
100 %
Genes
5 %
TULP1.

By Fulgent Genetics Fulgent Genetics in United States.

TULP1
Specificity
100 %
Genes
5 %
IFT140.

By Institute for Human Genetics University Clinic Freiburg in Germany.

IFT140
Specificity
100 %
Genes
5 %
Short-rib thoracic dysplasia 9 with or without polydactyly (sequence analysis of IFT140 gene).

By CGC Genetics in Portugal.

IFT140
Specificity
100 %
Genes
5 %
Craniosynostosis (NGS panel for 30 genes).

By CGC Genetics in Portugal.

TMCO1, IRX5, IMPAD1, TCF12, ERF, MEGF8, ESCO2, BMP4, FREM1, IFT122, IL11RA, MASP1, EFNB1, ALX4, SCARF2, WDR19, IFT140, GLI3, SKI, TGFBR2 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
5 %
Ellis Van Creveld syndrome (NGS panel for 12 genes).

By CGC Genetics in Portugal.

WDR34, WDR60, NEK1, DYNC2H1, IFT172, EVC2, EVC, IFT80, TTC21B, WDR19, IFT140, WDR35
Specificity
9 %
Genes
5 %
Short-rib thoracic dysplasia, with or without polydactyly (NGS panel for 16 genes).

By CGC Genetics in Portugal.

WDR34, WDR60, NEK1, DYNC2H1, CSPP1, CEP120, IFT172, IFT122, EVC2, EVC, IFT80, IFT43, TTC21B, WDR19, IFT140, WDR35
Specificity
7 %
Genes
5 %
Short Rib Skeletal Dysplasia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PAPSS2, WDR34, WDR60, NEK1, DYNC2H1, IFT172, TCTN3, IFT122, EVC2, EVC, IFT80, TTC21B, WDR19, IFT140, SOX9, WDR35, SLC26A2, FGFR2, FGFR3
Specificity
6 %
Genes
5 %
Skeletal dysplasia ciliopathy Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

DYNC2LI1, TCTEX1D2, IFT52, KIAA0753, IFT81, WDR34, WDR60, NEK1, ICK, DYNC2H1, CEP120, IFT172, C2CD3, IFT122, EVC2, EVC, IFT80, IFT43, TTC21B, WDR19 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
5 %
Skeletal dysplasia ciliopathy NGS panel.

By Connective Tissue Gene Tests in United States.

DYNC2LI1, TCTEX1D2, IFT52, KIAA0753, IFT81, WDR34, WDR60, NEK1, ICK, DYNC2H1, CEP120, IFT172, C2CD3, IFT122, EVC2, EVC, IFT80, IFT43, TTC21B, WDR19 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
5 %
Skeletal dysplasia ciliopathy Comprehensive panel.

By Connective Tissue Gene Tests in United States.

DYNC2LI1, TCTEX1D2, IFT52, KIAA0753, IFT81, WDR34, WDR60, NEK1, ICK, DYNC2H1, CEP120, IFT172, C2CD3, IFT122, EVC2, EVC, IFT80, IFT43, TTC21B, WDR19 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
5 %
Short-rib dysplasia Panel.

By CeGaT GmbH in Germany.

WDR34, WDR60, NEK1, DYNC2H1, IFT172, IFT122, EVC2, EVC, IFT80, TTC21B, WDR19, IFT140, WDR35
Specificity
8 %
Genes
5 %
Micromelic dysplasia: acromelic, acromesomelic, mesomelic and rhizo-mesomelic dysplasia Panel.

By CeGaT GmbH in Germany.

GSC, IHH, NPR2, DDR2, GDF5, TRPS1, GPC6, ZSWIM6, PDE4D, ROR2, WNT5A, IFT122, IFT43, IFT140, ADAMTSL2, WDR35, PRKAR1A, FGFR3, FBN1
Specificity
6 %
Genes
5 %
Skeletal Ciliopathies.

By Asper Biogene Asper Biogene LLC in Estonia.

DYNC2LI1, TCTEX1D2, IFT52, WDR34, WDR60, NEK1, DYNC2H1, CSPP1, CEP120, IFT172, TCTN3, IFT122, EVC2, EVC, IFT80, IFT43, TTC21B, WDR19, IFT140, COMP , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
5 %
Invitae Skeletal Ciliopathies Panel.

By Invitae in United States.

WDR34, WDR60, NEK1, DYNC2H1, CSPP1, CEP120, IFT172, TCTN3, IFT122, EVC2, EVC, IFT80, TTC21B, WDR19, IFT140, WDR35, KIAA0586
Specificity
6 %
Genes
5 %
Disproportionate Short Stature: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SULF1, KIF22, ACAN, PAPSS2, TBX6, IHH, NPR2, MMP9, MMP13, DDR2, MATN3, GDF5, TRPS1, TRIP11, SLC35D1, LIFR, FLNB, ACP5, DLL3, NKX3-2 , (...)

View the complete list with 65 more genes
Specificity
2 %
Genes
5 %
Disproportionate Short Stature: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SULF1, KIF22, PAPSS2, IHH, NPR2, MMP9, MMP13, DDR2, MATN3, GDF5, TRPS1, TRIP11, SLC35D1, LIFR, FLNB, ACP5, NKX3-2, CHST3, GPC6, TBCE , (...)

View the complete list with 56 more genes
Specificity
2 %
Genes
5 %
IFT140.

By Fulgent Genetics Fulgent Genetics in United States.

IFT140
Specificity
100 %
Genes
5 %
Short Rib Dysplasia / Asphyxiating Thoracic Dysplasia Panel.

By Blueprint Genetics in Finland.

WDR34, WDR60, NEK1, DYNC2H1, CSPP1, IFT172, TCTN3, IFT122, EVC2, EVC, IFT80, TTC21B, WDR19, IFT140, GLI2, WDR35
Specificity
7 %
Genes
5 %
Craniosynostosis Panel.

By Blueprint Genetics in Finland.

NOG, TWIST2, GDF5, FLNB, ALX3, TCF12, ERF, ZIC1, MEGF8, CDC45, ESCO2, BMP4, FREM1, IFT122, IL11RA, MASP1, EFNB1, ALX4, WDR19, IFT140 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
5 %
Skeletal Dysplasias Core Panel.

By Blueprint Genetics in Finland.

ACAN, PAPSS2, DVL1, XYLT1, IHH, NPR2, MMP9, INPPL1, MATN3, TRAPPC2, GDF5, ADAMTS10, TRIP11, LIFR, FLNB, ACP5, DLL3, CHST3, WISP3, SLC34A3 , (...)

View the complete list with 91 more genes
Specificity
1 %
Genes
5 %
Micromelic Dysplasia Panel.

By Blueprint Genetics in Finland.

DVL1, IHH, NPR2, INPPL1, GDF5, TRPS1, ADAMTS10, TRIP11, SLC35D1, LIFR, ROR2, WNT5A, EXT1, IFT122, GNAS, WDR19, BMPR1B, LTBP2, IFT140, ADAMTSL2 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
5 %
SHORT-RIB THORACIC DYSPLASIA.

By Laboratorio de Genetica Clinica SL in Spain.

DYNC2H1, IFT80, TTC21B, WDR19, IFT140
Specificity
20 %
Genes
5 %

Alternate names

Leber Congenital Amaurosis 1; Lca1 Is also known as amaurosis congenita of leber i, lca, retinal blindness, congenital;crb;amaurosis congenita of leber.


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