Macular Dystrophy, Concentric Annular

Description

Benign concentric annular macular dystrophy (BCAMD) is a progressive autosomal dominant macular dystrophy characterized by parafoveal hypopigmentation followed by a retinitis pigmentosa-like phenotype (nyctalopia and peripheral vision loss) with a bull’s eye configuration.

Clinical Features

Phenotypes and symptoms related to Macular Dystrophy, Concentric Annular

  • Macular dystrophy
  • Dyschromatopsia
  • Foveal hyperpigmentation

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Macular Dystrophy, Concentric Annular Recommended genes panels

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

By Baylor Miraca Genetics Laboratories in United States.

BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513 , (...)

View the complete list with 617 more genes
Specificity
1 %
Genes
100 %
MMACHC Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

MMACHC
Specificity
100 %
Genes
50 %
MMACHC Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

MMACHC
Specificity
100 %
Genes
50 %
MMACHC Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

MMACHC
Specificity
100 %
Genes
50 %
MMACHC Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

MMACHC
Specificity
100 %
Genes
50 %
Cobalamin Metabolism Panel (MitomeNGS).

By Baylor Miraca Genetics Laboratories in United States.

MMACHC, MTR, MTRR, MMADHC, LMBRD1, TCN2, MMAB, MMAA, MUT
Specificity
12 %
Genes
50 %
GeneAware Complete Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories in United States.

FMR1, UBE3A, ACADM, AGL, ACADVL, ALDOB, PC, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPT2 , (...)

View the complete list with 139 more genes
Specificity
1 %
Genes
50 %
GeneAware Complete Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories in United States.

UBE3A, ACADM, AGL, ACADVL, ALDOB, PC, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPT2, GNPTAB , (...)

View the complete list with 129 more genes
Specificity
1 %
Genes
50 %
Cobalamin C Deficiency - MMACHC Sequencing.

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

MMACHC
Specificity
100 %
Genes
50 %
Cobalamin C Deficiency - MMACHC Del/Dup Analysis.

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

MMACHC
Specificity
100 %
Genes
50 %
Genetic Renal Panel.

By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics in United States.

MMACHC, CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1, CFHR3, DGKE, PLG, ADAMTS13
Specificity
8 %
Genes
50 %
Cobalamin Metabolism Disorder.

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

MMACHC, MTR, MTRR, ACSF3, MMADHC, LMBRD1, TCN2, GIF, MCEE, MMAB, MMAA, MUT, SUCLG1, IVD, CBS, ABCD4, CD320
Specificity
6 %
Genes
50 %
Comprehensive Mitochondrial Metabolic Panel.

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

MCCC1, MCCC2, AARS2, ACACA, ACAD9, ACADL, ACADM, AGL, ACADVL, ACAT1, YARS2, PC, GYS2, UQCRQ, ARG1, UQCRB, HLCS, ATP5F1E, BTD, ATPAF2 , (...)

View the complete list with 176 more genes
Specificity
1 %
Genes
50 %
Epilepsy/Seizure.

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

MTHFR, UBE3A, BTD, ADSL, MMACHC, ADGRV1, POLG, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, CTSD, SLC25A22, GLDC, AMT, SLC9A6, ALDH5A1, ALDH7A1 , (...)

View the complete list with 78 more genes
Specificity
2 %
Genes
50 %
Infantile Epilepsy.

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

MTHFR, UBE3A, BTD, ADSL, MMACHC, POLG, MECP2, LIAS, GAMT, STXBP1, CTSD, SLC25A22, GLDC, AMT, SLC9A6, ALDH5A1, ALDH7A1, PTS, QDPR, TPP1 , (...)

View the complete list with 40 more genes
Specificity
2 %
Genes
50 %
Cobalamin/Propionate/Homocysteine Metabolism Related Disorders Panel, Sequencing (25 Genes) and Deletion/Duplication (24 Genes).

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

MTHFR, MMACHC, AMN, MTR, MTRR, ACSF3, SUCLA2, PCCB, PCCA, MMADHC, LMBRD1, TCN2, CUBN, GIF, MCEE, MMAB, MMAA, MUT, SUCLG1, CBS , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
50 %
MMACHC Gene Sequencing.

By GeneDx in United States.

MMACHC
Specificity
100 %
Genes
50 %
Hereditary Spastic Paraplegia Related Inborn Errors of Metabolism Panel.

By GeneDx in United States.

MTHFR, ARG1, BTD, MMACHC, OPA3, SPR, ABCD1, PTS, GALC, GBE1, CYP27A1, ARSA, TH, GCH1
Specificity
8 %
Genes
50 %
NGS Neurodegenerative disorders Multi-Gene Panel (73 genes).

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

MTHFR, ARG1, HLCS, BCKDHA, BCKDHB, ADSL, MMACHC, MTR, MTRR, CPS1, HPRT1, DLD, COQ9, PDSS2, PDSS1, GAMT, GATM, SPR, COQ8A, COQ2 , (...)

View the complete list with 40 more genes
Specificity
2 %
Genes
50 %
MMACHC. Detection of the mutation c.271dupA by sequencing.

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

MMACHC
Specificity
100 %
Genes
50 %
MMACHC. Complete sequencing.

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

MMACHC
Specificity
100 %
Genes
50 %
MMACHC. Complete sequencing.

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

MMACHC
Specificity
100 %
Genes
50 %
Atypical hemolytic uremic syndrome (NGS panel for 14 genes).

By CGC Genetics in Portugal.

MMACHC, LMNA, CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1, CFHR3, DGKE, ADAMTS13, CFHR4
Specificity
8 %
Genes
50 %
Methylmalonic aciduria and homocystinuria, cblC type (sequence analysis of MMACHC gene).

By CGC Genetics in Portugal.

MMACHC
Specificity
100 %
Genes
50 %
Methylmalonic aciduria (NGS panel for 15 genes).

By CGC Genetics in Portugal.

MMACHC, MTR, MTRR, ACSF3, SUCLA2, MMADHC, LMBRD1, MCEE, MMAB, MMAA, MUT, MLYCD, SUCLG1, ABCD4, CD320
Specificity
7 %
Genes
50 %
Methylmalonic aciduria and homocystinuria, cblC type (deletions/duplications analysis of MMACHC gene).

By CGC Genetics in Portugal.

MMACHC
Specificity
100 %
Genes
50 %
Methylmalonic aciduria and homocystinuria, cblC type (deletions/duplications analysis of MMACHC gene).

By CGC Genetics in Portugal.

MMACHC
Specificity
100 %
Genes
50 %
MMACHC Sequence Analysis.

By Translational Metabolic Laboratory Radboud University Medical Centre in Netherlands.

MMACHC
Specificity
100 %
Genes
50 %
Methylmalonic Aciduria and Homocystinuria Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

MMACHC, MMADHC, LMBRD1, TCN2, ABCD4, HCFC1, CD320
Specificity
15 %
Genes
50 %
Methylmalonic Aciduria and Homocystinuria, cblC type, via the MMACHC Gene.

By PreventionGenetics PreventionGenetics in United States.

MMACHC
Specificity
100 %
Genes
50 %
Hyperammonemia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

MCCC1, MCCC2, ACADM, ACADS, ACADVL, ARG1, HLCS, MMACHC, CPS1, CPT2, SLC25A13, HADHA, TMEM70, HADHB, GLUD1, PCCB, PCCA, HMGCS2, OTC, MMADHC , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
50 %
Organic Aciduria Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

MCCC1, MCCC2, ACAT1, HLCS, BCKDHA, BCKDHB, MMACHC, DLD, ACSF3, ALDH6A1, IDH2, PCCB, PCCA, D2HGDH, MMADHC, MCEE, MMAB, MMAA, MUT, DBT , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
50 %
Disorders Related to Metabolism of Cobalamin, Folate and Homocysteine Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

MTHFR, MMACHC, AMN, MTR, MTRR, ACSF3, ALDH6A1, SUCLA2, PCCB, PCCA, MMADHC, LMBRD1, TCN2, CUBN, GIF, MCEE, MMAB, MMAA, MUT, MLYCD , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
50 %
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, C12orf65, INVS, NEUROD1, SPATA7, MMACHC, FBLN5, LRP5, COL2A1, PRKCG, CHM, PDZD7, RP1, INPP5E, AMACR , (...)

View the complete list with 285 more genes
Specificity
1 %
Genes
100 %
Atypical hemolytic uremic syndrome susceptibility and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

MMACHC, CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1, CFHR3, DGKE, ADAMTS13, CFHR2
Specificity
8 %
Genes
50 %
Atypical hemolytic uremic syndrome susceptibility and related disorders Deletion/ Duplication panel.

By Connective Tissue Gene Tests in United States.

MMACHC, CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1, CFHR3, DGKE, ADAMTS13, CFHR2
Specificity
8 %
Genes
50 %
Atypical hemolytic uremic syndrome susceptibility and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

MMACHC, CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1, CFHR3, DGKE, ADAMTS13, CFHR2
Specificity
8 %
Genes
50 %
Atypical hemolytic uremic syndrome.

By Northern Molecular Genetics Service Newcastle Upon Tyne Hospitals NHS Foundation Trust in United Kingdom.

MMACHC, INF2, CFB, CFI, CFH, CD46, C3, THBD, DGKE, ADAMTS13, C5
Specificity
10 %
Genes
50 %
MMACHC-related Methylmalonic aciduria and homocystinuria.

By Institute of Human Genetics Cologne University in Germany.

MMACHC
Specificity
100 %
Genes
50 %
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6 , (...)

View the complete list with 847 more genes
Specificity
1 %
Genes
50 %
Hereditary kidney disorders - different panels.

By Institute of Human Genetics Cologne University in Germany.

VHL, ACAT1, ARG1, ATP7B, AUH, BCS1L, INVS, HNF1A, MMACHC, EYA1, LRP5, SLC34A1, WT1, PAX6, SDHAF2, HNF1B, RET, INPP5E, CPS1, GLB1 , (...)

View the complete list with 391 more genes
Specificity
1 %
Genes
50 %
Atypical hemplytic-uremic syndrome.

By Institute of Human Genetics Cologne University in Germany.

MMACHC, CFI, CFH, CD46, C3, DGKE
Specificity
17 %
Genes
50 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center in Germany.

MTHFR, TTR, UBE3A, AARS2, ABHD12, ACAD9, ACADM, ACADS, AGL, ACADVL, YARS2, PC, UQCRQ, ARG1, UQCRB, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA , (...)

View the complete list with 577 more genes
Specificity
1 %
Genes
50 %
Methylmalonic Acidemia Sequential Panel.

By FirmaLab in United States.

MMACHC, MCEE, MMAB, MMAA, MUT
Specificity
20 %
Genes
50 %
Methylmalonic aciduria and homocystinuria, cblC type (MMACHC).

By VU University Medical Center Metabolic Unit, PX 1X 009 in Netherlands.

MMACHC
Specificity
100 %
Genes
50 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
50 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
50 %
CentoICU platinum.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
50 %
Methylmalonic aciduria cbIC type.

By Centogene AG - the Rare Disease Company in Germany.

MMACHC
Specificity
100 %
Genes
50 %
Leukodystrophy / Leukencephalopathy and differential diagnoses Panel.

By CeGaT GmbH in Germany.

AARS2, PC, TYROBP, ATP7A, ATP7B, AUH, BCS1L, C12orf65, MMACHC, HSD17B4, PSAP, GLB1, OCRL, POLG, NDUFS4, HSPD1, FOXRED1, NDUFAF2, NDUFA12, NDUFA9 , (...)

View the complete list with 155 more genes
Specificity
1 %
Genes
50 %
cblC Deficiency - MMACHC.

By Centre for Inherited Metabolic Diseases Karolinska University Hospital in Sweden.

MMACHC
Specificity
100 %
Genes
50 %
Methylmalonic Aciduria and Homocystinuria.

By Asper Biogene Asper Biogene LLC in Estonia.

MTHFR, MMACHC, AMN, MTR, MTRR, ACSF3, SUCLA2, MMADHC, LMBRD1, TCN2, CUBN, GIF, MCEE, MMAB, MMAA, MUT, MLYCD, SUCLG1, IVD, CBS , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
50 %
Retinal Dystrophy Panel.

By Molecular Vision Laboratory in United States.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, C12orf65, INVS, OPN1MW, OPN1LW, NEUROD1, SPATA7, MMACHC, LRP5, CHM, PDZD7, RP1, INPP5E, AMACR, OPA1 , (...)

View the complete list with 267 more genes
Specificity
1 %
Genes
100 %
MVL Vision Panel.

By Molecular Vision Laboratory in United States.

ZNF513, USH1G, USH1C, BEST1, C12orf65, INVS, OPN1MW, OPN1LW, NEUROD1, SPATA7, MMACHC, LRP5, CHM, PDZD7, RP1, INPP5E, OPA1, WFS1, CC2D2A, ELOVL4 , (...)

View the complete list with 248 more genes
Specificity
1 %
Genes
100 %
Invitae Organic Acidemias Panel.

By Invitae in United States.

MCCC1, MCCC2, ACAT1, FBP1, HLCS, BTD, AUH, BCKDHA, BCKDHB, MMACHC, HSD17B10, POLG, OPA3, ACSF3, TMEM70, HMGCL, IDH2, SUCLA2, ACAD8, DNAJC19 , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
50 %
Invitae Metabolic Disorders Newborn Screening Confirmation Panel.

By Invitae in United States.

MCCC1, MCCC2, ACADM, ACADS, ACADVL, ACAT1, PC, ARG1, HLCS, BTD, AUH, BCKDHA, BCKDHB, GAA, MMACHC, MTR, MTRR, CPS1, CPT2, PRODH , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
50 %
Invitae Elevated C3 Panel.

By Invitae in United States.

HLCS, BTD, MMACHC, PCCB, PCCA, MMADHC, MMAB, MMAA, MUT
Specificity
12 %
Genes
50 %
Invitae Combined Methylmalonic Acidemia and Homocystinuria Panel.

By Invitae in United States.

MMACHC, AMN, MMADHC, LMBRD1, TCN2, CUBN, GIF, ABCD4, HCFC1, CD320, TCN1
Specificity
10 %
Genes
50 %
Invitae Treatable Neurometabolic Disorders Panel.

By Invitae in United States.

MTHFR, MCCC1, MCCC2, ACAT1, ARG1, HLCS, ATP7A, BTD, ATP7B, AUH, BCKDHA, BCKDHB, MMACHC, AMN, MTR, MTRR, CPS1, HSD17B10, DLD, SLC25A13 , (...)

View the complete list with 72 more genes
Specificity
2 %
Genes
50 %
Methylmalonic aciduria and homocystinuria, cblC type: MMACHC gene sequence analysis..

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

MMACHC
Specificity
100 %
Genes
50 %
ORGANIC ACIDEMIAS.

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

MCCC1, MCCC2, ACAT1, BCKDHA, BCKDHB, MMACHC, HMGCL, PCCB, PCCA, MMAB, MMAA, MUT, DBT, IVD, GCDH
Specificity
7 %
Genes
50 %
Methylmalonic Aciduria and Homocystinuria, cblC Type: MMACHC Full Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MMACHC
Specificity
100 %
Genes
50 %
Methylmalonic Aciduria and Homocystinuria, cblC Type: MMACHC Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MMACHC
Specificity
100 %
Genes
50 %
Inherited Metabolic Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MCCC1, MCCC2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, PC, GYS2, HLCS, ATPAF2, AUH, BCKDHA, BCKDHB, GAA, MMACHC, MTR, SLC37A4, MTRR , (...)

View the complete list with 81 more genes
Specificity
1 %
Genes
50 %
Pan-Ethnic Carrier Screen: Gene Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FMR1, HFE, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, CHM, TYR, SLC37A4 , (...)

View the complete list with 127 more genes
Specificity
1 %
Genes
50 %
Cobalamin C Disease (MMACHC).

By Integrated Genetics Westborough Integrated Genetics in United States.

MMACHC
Specificity
100 %
Genes
50 %
Inheritest NGS, Comprehensive.

By Integrated Genetics Westborough Integrated Genetics in United States.

FMR1, ACADM, AGL, ACADVL, ACAT1, ALDOB, ALPL, HLCS, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPS1, CPT2, GNPTAB , (...)

View the complete list with 120 more genes
Specificity
1 %
Genes
50 %
Cobalamin Homocysteine Methionine Deficiency NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, MMACHC, MTR, MTRR, ALDH6A1, MMADHC, LMBRD1, TCN2, MCEE, MMAB, MMAA, MUT, CBS, AHCY, GNMT, CD320, MAT1A, CTH, ADK, FOLH1
Specificity
5 %
Genes
50 %
Methylmalonic Acid Metabolism NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MMACHC, ACSF3, ALDH6A1, SUCLA2, MMADHC, LMBRD1, TCN2, MCEE, MMAB, MMAA, MUT, SUCLG1, CD320
Specificity
8 %
Genes
50 %
Nuclear-Mito NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

HTT, UBE3A, MUTYH, TP53, MCCC1, MCCC2, AARS2, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, GYS2, UQCRQ, UQCRB , (...)

View the complete list with 484 more genes
Specificity
1 %
Genes
50 %
Methylmalonic Aciduria and Homocystinuria NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MMACHC, MMADHC, LMBRD1
Specificity
34 %
Genes
50 %
MMACHC.

By Fulgent Genetics Fulgent Genetics in United States.

MMACHC
Specificity
100 %
Genes
50 %
Hyperammonemia and Urea Cycle Disorder Panel.

By Blueprint Genetics in Finland.

MCCC1, MCCC2, ACADM, ACADS, ACADVL, PC, ARG1, HLCS, BCKDHA, BCKDHB, MMACHC, CPS1, CPT2, DLD, SLC25A13, HADHA, TMEM70, HMGCL, SUCLA2, HADHB , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
50 %
Retinal Dystrophy Panel.

By Blueprint Genetics in Finland.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, SPATA7, MMACHC, LRP5, COL2A1, PRKCG, CHM, PDZD7, RP1, INPP5E, OPA1, WFS1, CC2D2A, ELOVL4 , (...)

View the complete list with 240 more genes
Specificity
1 %
Genes
100 %
Organic Acidemia/Aciduria & Cobalamin Deficiency Panel.

By Blueprint Genetics in Finland.

MTHFR, MCCC1, MCCC2, ACAT1, BCKDHA, BCKDHB, BCS1L, MMACHC, AMN, MTR, MTRR, DLD, ACSF3, HMGCL, IDH2, ACADSB, PCCB, PCCA, D2HGDH, MMADHC , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
50 %
Comprehensive Metabolism Panel.

By Blueprint Genetics in Finland.

HFE, MTHFR, MCCC1, MCCC2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ARG1, HLCS, BTD, ATP7B , (...)

View the complete list with 414 more genes
Specificity
1 %
Genes
50 %
Methylmalonic acidemia with homocystinuria, type cblC.

By Bioarray in Spain.

MMACHC
Specificity
100 %
Genes
50 %
CarrierMap.

By Recombine in United States.

FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, PC, USH1C, ALPL, ARG1, HLCS, ATP7A, BTD, ATP7B, BCKDHA , (...)

View the complete list with 281 more genes
Specificity
1 %
Genes
50 %
Baby Genes Targeted Panel.

By Baby Genes Inc. Baby Genes Inc. in United States.

MTHFR, MCCC1, MCCC2, ACADM, ACADS, ACADVL, ACAT1, ARG1, HLCS, BTD, BCKDHA, BCKDHB, GAA, HBB, MMACHC, MTR, MTRR, CPT2, DLD, SLC25A13 , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
50 %
METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA.

By Laboratorio de Genetica Clinica SL in Spain.

MMACHC, MMADHC, LMBRD1, ABCD4, HCFC1
Specificity
20 %
Genes
50 %
METHYLMALONIC ACIDEMIA: NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

MMACHC, ACSF3, SUCLA2, MMADHC, LMBRD1, MCEE, MMAB, MMAA, MUT, MLYCD, SUCLG1, ABCD4, HCFC1, CD320
Specificity
8 %
Genes
50 %
ATYPICAL HEMOLYTIC UREMIC SYNDROME: NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

MMACHC, CFB, CFI, CFH, CFHR5, CD46, C3, THBD, C1S, CFHR1, CFHR3, DGKE, C2, C9, C8A
Specificity
7 %
Genes
50 %
Methylmalonic acidemia with homocystinuria cblC.

By Genera in Brazil.

MMACHC
Specificity
100 %
Genes
50 %
Methylmalonic Acidemia with Homocystinuria Type CblC, Sequencing MMACHC Gene.

By Reference Laboratory Genetics in Spain.

MMACHC
Specificity
100 %
Genes
50 %
Methylmalonic Acidemia , Panel Massive Sequencing (NGS) 7 Genes.

By Reference Laboratory Genetics in Spain.

MMACHC, MMADHC, LMBRD1, MMAB, MMAA, MUT, ABCD4
Specificity
15 %
Genes
50 %
Organic Acidemias , Panel Massive Sequencing (NGS) 15 Genes.

By Reference Laboratory Genetics in Spain.

MCCC1, MCCC2, ACAT1, BCKDHA, BCKDHB, MMACHC, HMGCL, PCCA, MMAB, MMAA, MUT, DBT, IVD, GCDH
Specificity
8 %
Genes
50 %
Neural Tube Defects and Related Disorders , Panel Massive Sequencing (NGS) 9 Genes.

By Reference Laboratory Genetics in Spain.

MTHFR, MMACHC, MTR, MTRR, CCL2, VANGL1, VANGL2, FUZ, MTHFD1
Specificity
12 %
Genes
50 %
Methylmalonic acidemia: gene sequencing panel (RAPID testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

MMACHC, ACSF3, MMADHC, LMBRD1, TCN2, MMAB, MMAA, MUT, ABCD4, HCFC1, CD320
Specificity
10 %
Genes
50 %
CEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

MTHFR, MCCC1, MCCC2, ACADM, ACADS, ACADVL, ACAT1, ARG1, HLCS, BTD, AUH, BCKDHA, BCKDHB, GAA, HBB, MMACHC, MTR, MTRR, CPT2, HSD17B10 , (...)

View the complete list with 79 more genes
Specificity
2 %
Genes
50 %
CEN4GEN rapid pan-ethnic carrier screen: Full gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

MTHFR, MCCC1, MCCC2, ACADM, ACADS, ACADVL, ACAT1, ARG1, HLCS, BTD, AUH, BCKDHA, BCKDHB, GAA, HBB, MMACHC, MTR, MTRR, CPT2, HSD17B10 , (...)

View the complete list with 84 more genes
Specificity
1 %
Genes
50 %
Methylmalonic aciduria with homocystinuria, cblC type: Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

MMACHC
Specificity
100 %
Genes
50 %
Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HFE, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, TYR, SLC37A4, HSD17B4, CPT2 , (...)

View the complete list with 116 more genes
Specificity
1 %
Genes
50 %
CRX Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

CRX
Specificity
100 %
Genes
50 %
CRX Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

CRX
Specificity
100 %
Genes
50 %
CRX Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

CRX
Specificity
100 %
Genes
50 %
CRX Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

CRX
Specificity
100 %
Genes
50 %
Leber Congential Amaurosis Panel (MitomeNGS).

By Baylor Miraca Genetics Laboratories in United States.

AIPL1, SPATA7, OTX2, KCNJ13, CEP290, TULP1, RPGRIP1, RPE65, IMPDH1, GUCY2D, CRX, CRB1, LRAT, RDH12, RD3, CABP4, IQCB1, LCA5, NMNAT1
Specificity
6 %
Genes
50 %
Cone-Rod Dystrophy Panel.

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

AIPL1, BEST1, ABCA4, CACNA1F, CNGB3, PRPH2, TULP1, RPGRIP1, RPGR, PROM1, GUCY2D, CRX, CRB1, C8orf37, GNAT2, CDHR1, PDE6C, ADAM9, CACNA2D4, KCNV2 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
50 %
Leber Congenital Amaurosis Panel.

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

AIPL1, SPATA7, OTX2, KCNJ13, CEP290, PRPH2, TULP1, RPGRIP1, RPE65, IMPDH1, GUCY2D, CRX, CRB1, LRAT, RDH12, RD3, CABP4, IQCB1, LCA5, NMNAT1 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
50 %
Retinitis Pigmentosa Panel.

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

ABHD12, ZNF513, AIPL1, BEST1, NEUROD1, SPATA7, PRKCG, CHM, RP1, ABCA4, MFRP, ARL6, CEP290, CLRN1, TTC8, USH2A, PRPH2, TULP1, SAG, RPGRIP1 , (...)

View the complete list with 72 more genes
Specificity
2 %
Genes
50 %
Ciliopathies.

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

VHL, USH1G, USH1C, INVS, SPATA7, CC2D2A, TMEM67, KCNJ13, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4, PCDH15, TULP1 , (...)

View the complete list with 73 more genes
Specificity
2 %
Genes
50 %
CRX.

By Institute for Human Genetics University Clinic Freiburg in Germany.

CRX
Specificity
100 %
Genes
50 %
Retinitis Pigmentosa/Leber Congenital Amaurosis Panel, Sequencing and Deletion/Duplication, 53 Genes.

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

AIPL1, BEST1, SPATA7, RP1, ABCA4, CEP290, TTC8, USH2A, PRPH2, TULP1, SAG, RPGRIP1, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, GUCY2D , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
50 %
GUCA1A Gene Sequencing.

By GeneDx in United States.

CRX
Specificity
100 %
Genes
50 %
CRX Gene Sequencing.

By GeneDx in United States.

CRX
Specificity
100 %
Genes
50 %
GUCY2D Select Exons Sequencing.

By GeneDx in United States.

CRX
Specificity
100 %
Genes
50 %
ABCA4, CRX, GUCY2D. NextGeneDx.Complete sequencing by NGS.

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

ABCA4, GUCY2D, CRX
Specificity
34 %
Genes
50 %
CRX. Complete sequencing.

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

CRX
Specificity
100 %
Genes
50 %
Leber congenital amaurosis 7 (sequence analysis of CRX gene).

By CGC Genetics in Portugal.

CRX
Specificity
100 %
Genes
50 %
Cone-rod dystrophy (NGS panel of 36 genes).

By CGC Genetics in Portugal.

AIPL1, BEST1, ABCA4, CACNA1F, CNGB3, PRPH2, RPGRIP1, RPGR, PROM1, GUCY2D, CRX, C8orf37, GNAT2, CDHR1, PDE6C, ADAM9, CACNA2D4, CABP4, KCNV2, SEMA4A , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
50 %
Leber congenital amaurosis (NGS panel for 20 genes).

By CGC Genetics in Portugal.

AIPL1, SPATA7, OTX2, KCNJ13, CEP290, PRPH2, TULP1, RPGRIP1, RPE65, IMPDH1, GUCY2D, CRX, CRB1, LRAT, RDH12, RD3, IQCB1, LCA5, NMNAT1, GDF6
Specificity
5 %
Genes
50 %
Retinitis pigmentosa (NGS panel for 72 genes).

By CGC Genetics in Portugal.

ZNF513, BEST1, SPATA7, RP1, ABCA4, ARL6, CLRN1, TTC8, USH2A, PRPH2, TULP1, SAG, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, CRX , (...)

View the complete list with 52 more genes
Specificity
2 %
Genes
50 %
Retinitis pigmentosa, AD and X-linked (NGS panel for 27 genes).

By CGC Genetics in Portugal.

BEST1, RP1, PRPH2, RPGR, RPE65, RHO, IMPDH1, CRX, PRPF6, GUCA1B, RGR, NRL, KLHL7, RDH12, SNRNP200, SEMA4A, TOPORS, FSCN2, CA4, PRPF31 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
50 %
Leber congenital amaurosis (deletion/duplication analysis on AIPL1, CRB1, CRX, LCA5 and RPE65 genes).

By CGC Genetics in Portugal.

AIPL1, RPE65, CRX, CRB1, LCA5
Specificity
20 %
Genes
50 %
Leber congenital amaurosis (deletion/duplication analysis on AIPL1, CRB1, CRX, LCA5 and RPE65 genes).

By CGC Genetics in Portugal.

AIPL1, RPE65, CRX, CRB1, LCA5
Specificity
20 %
Genes
50 %
Autosomal Dominant Retinitis Pigmentosa Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

BEST1, PRKCG, RP1, PRPH2, RPE65, RHO, PDE6B, IMPDH1, CRX, CRB1, PRPF6, GUCA1B, NRL, KLHL7, SNRNP200, SEMA4A, TOPORS, FSCN2, C1QTNF5, LCA5 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
50 %
Leber Congenital Amaurosis Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

AIPL1, SPATA7, INPP5E, OTX2, CNGB3, KCNJ13, CEP290, PRPH2, TULP1, RPGRIP1, RPE65, IMPDH1, GUCY2D, CRX, CRB1, MERTK, GNAT2, LRAT, RDH12, RD3 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
50 %
Retinitis Pigmentosa (includes RPGR ORF15) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ABHD12, ZNF513, AIPL1, BEST1, NEUROD1, SPATA7, PRKCG, CHM, RP1, INPP5E, ABCA4, CACNA1F, MFRP, ARL6, CEP290, CLRN1, TTC8, USH2A, PRPH2, TULP1 , (...)

View the complete list with 60 more genes
Specificity
2 %
Genes
50 %
Cone-Rod Dystrophy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

AIPL1, BEST1, ABCA4, CACNA1F, CNGB3, PRPH2, RPGRIP1, RPGR, PROM1, GUCY2D, CRX, C8orf37, CDHR1, PDE6C, ADAM9, CACNA2D4, CABP4, KCNV2, SEMA4A, RGS9 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
50 %
Leber Congenital Amaurosis via the CRX Gene.

By PreventionGenetics PreventionGenetics in United States.

CRX
Specificity
100 %
Genes
50 %
Focused Inherited Retinal Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

AIPL1, SPATA7, CHM, RP1, OTX2, KCNJ13, CEP290, USH2A, TULP1, RPGRIP1, RPE65, RHO, PDE6B, IMPDH1, GUCY2D, CRX, CRB1, PDE6A, CNGA1, PCARE , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
50 %
Leber congenital amaurosis and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

AIPL1, SPATA7, INPP5E, OTX2, KCNJ13, CEP290, PRPH2, TULP1, RPGRIP1, RPE65, IMPDH1, GUCY2D, CRX, CRB1, MERTK, LRAT, RDH12, RD3, CABP4, SNRNP200 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
50 %
Leber congenital amaurosis and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

AIPL1, SPATA7, INPP5E, OTX2, KCNJ13, CEP290, PRPH2, TULP1, RPGRIP1, RPE65, IMPDH1, GUCY2D, CRX, CRB1, MERTK, LRAT, RDH12, RD3, CABP4, SNRNP200 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
50 %
Leber congenital amaurosis and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

AIPL1, SPATA7, INPP5E, OTX2, KCNJ13, CEP290, PRPH2, TULP1, RPGRIP1, RPE65, IMPDH1, GUCY2D, CRX, CRB1, MERTK, LRAT, RDH12, RD3, CABP4, SNRNP200 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
50 %
CRX-Related Leber Congenital Amaurosis.

By Bioscientia GmbH Center for Human Genetics in Germany.

CRX
Specificity
100 %
Genes
50 %
Leber congenital amaurosis type 7.

By Centogene AG - the Rare Disease Company in Germany.

CRX
Specificity
100 %
Genes
50 %
Cone-rod dystrophy type 2.

By Centogene AG - the Rare Disease Company in Germany.

CRX
Specificity
100 %
Genes
50 %
Retinitis pigmentosa, autosomal dominant and X-linked Panel.

By CeGaT GmbH in Germany.

BEST1, RP1, PRPH2, RPGR, RPE65, RHO, IMPDH1, CRX, PRPF6, GUCA1B, RGR, NRL, KLHL7, RDH12, SNRNP200, SEMA4A, TOPORS, FSCN2, CA4, PRPF31 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
50 %
Cone Rod Dystrophies Panel.

By CeGaT GmbH in Germany.

AIPL1, ABCA4, CACNA1F, CNGB3, CEP290, PRPH2, RPGRIP1, RPGR, PROM1, GUCY2D, CRX, CRB1, C8orf37, GNAT2, CDHR1, PCARE, PDE6C, ADAM9, CACNA2D4, CABP4 , (...)

View the complete list with 20 more genes
Specificity
3 %
Genes
50 %
Stargardt Disease and Macular Dystrophies Panel.

By CeGaT GmbH in Germany.

BEST1, ELOVL4, ABCA4, CNGB3, PRPH2, RPGR, PROM1, CRX, CRB1, RP1L1, IMPG2, RDH12, FSCN2, C1QTNF5, CLN3, TIMP3, MFSD8, TTLL5, CTNNA1, DRAM2 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
50 %
Leber Congenital Amaurosis Panel.

By CeGaT GmbH in Germany.

AIPL1, SPATA7, OTX2, KCNJ13, CEP290, PRPH2, TULP1, RPGRIP1, RPE65, GUCY2D, CRX, CRB1, MERTK, LRAT, RDH12, RD3, IQCB1, LCA5, RDH5, NMNAT1
Specificity
5 %
Genes
50 %
Single gene testing CRX.

By CeGaT GmbH in Germany.

CRX
Specificity
100 %
Genes
50 %
Leber Congenital Amaurosis.

By Asper Biogene Asper Biogene LLC in Estonia.

AIPL1, SPATA7, KCNJ13, CEP290, TULP1, RPGRIP1, RPE65, IMPDH1, GUCY2D, CRX, CRB1, LRAT, RDH12, RD3, LCA5, NMNAT1, GDF6
Specificity
6 %
Genes
50 %
Autosomal Recessive Retinitis Pigmentosa.

By Asper Biogene Asper Biogene LLC in Estonia.

ZNF513, AIPL1, BEST1, RP1, ABCA4, CNGB3, ARL6, CLRN1, TTC8, USH2A, TULP1, SAG, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, CRX , (...)

View the complete list with 36 more genes
Specificity
2 %
Genes
50 %
Autosomal Dominant Retinitis Pigmentosa.

By Asper Biogene Asper Biogene LLC in Estonia.

AIPL1, BEST1, PRKCG, RP1, PRPH2, RPE65, RHO, IMPDH1, CRX, PRPF6, GUCA1B, RGR, NRL, KLHL7, RDH12, SNRNP200, SEMA4A, TOPORS, FSCN2, CA4 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
50 %
Cone-Rod Dystrophy.

By Asper Biogene Asper Biogene LLC in Estonia.

AIPL1, BEST1, ABCA4, CACNA1F, CNGB3, PRPH2, RPGRIP1, RPGR, PROM1, GUCY2D, CRX, C8orf37, GNAT2, CDHR1, PDE6C, ADAM9, CACNA2D4, CABP4, KCNV2, SEMA4A , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
50 %
Eye diseases comprehensive panel.

By Asper Biogene Asper Biogene LLC in Estonia.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, OPN1MW, SPATA7, TYRP1, LRP5, COL2A1, VSX1, SLC45A2, PAX6, ZEB1, CHM, TGFBI, PITX3, TYR , (...)

View the complete list with 255 more genes
Specificity
1 %
Genes
50 %
Developmental Eye Disease panel.

By Molecular Vision Laboratory in United States.

RAX, PAX6, PITX3, ABCB6, FOXC1, PITX2, MFRP, NDP, OTX2, CYP1B1, SHH, CRX, STRA6, BCOR, SIX6, SOX2, HESX1, PAX2, CHD7, FKTN , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
50 %
Cone Rod Dystrophy panel.

By Molecular Vision Laboratory in United States.

AIPL1, ABCA4, CACNA1F, CNGB3, PRPH2, RPGRIP1, RPGR, PROM1, GUCY2D, CRX, C8orf37, GNAT2, CDHR1, PDE6C, ADAM9, CACNA2D4, KCNV2, SEMA4A, CERKL, RIMS1 , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
50 %
Leber congenital amaurosis panel.

By Molecular Vision Laboratory in United States.

AIPL1, SPATA7, OTX2, KCNJ13, CEP290, PRPH2, TULP1, RPGRIP1, RPE65, IMPDH1, GUCY2D, CRX, CRB1, LRAT, RDH12, RD3, CABP4, IQCB1, LCA5, NMNAT1 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
50 %
CRX single gene sequencing.

By Molecular Vision Laboratory in United States.

CRX
Specificity
100 %
Genes
50 %
Invitae Leber Congenital Amaurosis Panel.

By Invitae in United States.

AIPL1, SPATA7, OTX2, KCNJ13, CEP290, PRPH2, TULP1, RPGRIP1, RPE65, GUCY2D, CRX, CRB1, LRAT, RDH12, RD3, IQCB1, LCA5, NMNAT1, GDF6
Specificity
6 %
Genes
50 %
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
50 %
RETINITIS PIGMENTOSA A.D.

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

BEST1, RP1, ABCA4, PRPH2, RPGR, RPE65, RHO, IMPDH1, CRX, PRPF6, GUCA1B, RGR, NRL, KLHL7, RDH12, SNRNP200, SEMA4A, TOPORS, FSCN2, CA4 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
50 %
Leber Congenital Amaurosis.

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

AIPL1, SPATA7, KCNJ13, CEP290, TULP1, RPGRIP1, RPE65, IMPDH1, GUCY2D, CRX, CRB1, LRAT, RDH12, RD3, IQCB1, LCA5, NMNAT1
Specificity
6 %
Genes
50 %
RETINITIS PIGMENTOSA.

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

ZNF513, BEST1, SPATA7, RP1, ABCA4, TTC8, USH2A, PRPH2, TULP1, SAG, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, CRX, CRB1, IDH3B , (...)

View the complete list with 37 more genes
Specificity
2 %
Genes
50 %
Cone rod dystrophy.

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

AIPL1, BEST1, ABCA4, CACNA1F, CNGB3, PRPH2, RPGRIP1, RPGR, PROM1, GUCY2D, CRX, C8orf37, CDHR1, PDE6C, ADAM9, CACNA2D4, CABP4, KCNV2, SEMA4A, RGS9 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
50 %
Achromatopsia, Cone, and Cone-rod Dystrophy: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

AIPL1, BEST1, PAX6, ABCA4, CACNA1F, CNGB3, CEP290, PRPH2, RPGRIP1, RPGR, PROM1, GUCY2D, CRX, C8orf37, GUCA1B, GNAT2, CDHR1, PDE6C, ADAM9, CACNA2D4 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
50 %
Eye Disorders: Comprehensive Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, SPATA7, TYRP1, LRP5, COL2A1, OCA2, SLC45A2, WT1, PAX6, CHM, PITX3, TYR, RP1, GPR143 , (...)

View the complete list with 190 more genes
Specificity
1 %
Genes
50 %
Leber Congenital Amaurosis: Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

AIPL1, SPATA7, OTX2, KCNJ13, CEP290, TULP1, RPGRIP1, RPE65, IMPDH1, GUCY2D, CRX, CRB1, LRAT, RDH12, RD3, CABP4, IQCB1, LCA5
Specificity
6 %
Genes
50 %
Retinitis Pigmentosa: Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ZNF513, AIPL1, BEST1, SPATA7, RP1, ABCA4, CLRN1, TTC8, USH2A, PRPH2, TULP1, SAG, RPGRIP1, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1 , (...)

View the complete list with 44 more genes
Specificity
2 %
Genes
50 %
Ciliopathies: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

VHL, AIPL1, USH1G, USH1C, INVS, SPATA7, CC2D2A, TMEM67, KCNJ13, ARL6, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4 , (...)

View the complete list with 92 more genes
Specificity
1 %
Genes
50 %
Retina/Photoreceptor Dystrophy: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ZNF513, AIPL1, BEST1, SPATA7, LRP5, COL2A1, PAX6, CHM, RP1, OPA1, ELOVL4, ABCA4, CACNA1F, NDP, OTX2, CNGB3, KCNJ13, CEP290, CLRN1, TTC8 , (...)

View the complete list with 100 more genes
Specificity
1 %
Genes
50 %
Achromatopsia, Cone, and Cone-rod Dystrophy: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

AIPL1, BEST1, PAX6, ABCA4, CACNA1F, CNGB3, CEP290, PRPH2, RPGRIP1, RPGR, PROM1, GUCY2D, CRX, C8orf37, GUCA1B, GNAT2, CDHR1, PDE6C, ADAM9, CACNA2D4 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
50 %
Ciliopathies: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

VHL, AIPL1, USH1G, USH1C, INVS, SPATA7, CC2D2A, TMEM67, KCNJ13, ARL6, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4 , (...)

View the complete list with 76 more genes
Specificity
2 %
Genes
50 %
Eye Disorders: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, SPATA7, TYRP1, LRP5, COL2A1, OCA2, SLC45A2, WT1, PAX6, CHM, PITX3, TYR, PDZD7, RP1 , (...)

View the complete list with 187 more genes
Specificity
1 %
Genes
50 %
Ciliopathies NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

VHL, AIPL1, USH1G, USH1C, INVS, SPATA7, CC2D2A, TMEM67, KCNJ13, ARL6, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4 , (...)

View the complete list with 75 more genes
Specificity
2 %
Genes
50 %
Eye Disorders NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

ZNF513, AIPL1, USH1C, BEST1, INVS, SPATA7, COL2A1, PAX6, CHM, RB1, RP1, OPTN, OPA1, WFS1, CC2D2A, FOXC1, ELOVL4, PITX2, ABCA4, JAG1 , (...)

View the complete list with 118 more genes
Specificity
1 %
Genes
50 %
Cone-Rod Dystrophy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

AIPL1, BEST1, ABCA4, CACNA1F, CNGB3, RPGRIP1, PROM1, GUCY2D, CRX, C8orf37, CDHR1, PDE6C, ADAM9, CACNA2D4, KCNV2, SEMA4A, CERKL, RIMS1, GUCA1A, PITPNM3 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
50 %
Retinitis Pigmentosa NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

ZNF513, AIPL1, USH1C, BEST1, INVS, SPATA7, RP1, WFS1, ABCA4, CACNA1F, ARL6, NPHP3, NPHP1, MKKS, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4 , (...)

View the complete list with 68 more genes
Specificity
2 %
Genes
50 %
CRX.

By Fulgent Genetics Fulgent Genetics in United States.

CRX
Specificity
100 %
Genes
50 %
Leber Congenital Amaurosis Panel.

By Blueprint Genetics in Finland.

AIPL1, SPATA7, KCNJ13, CEP290, TULP1, RPGRIP1, RPE65, IMPDH1, GUCY2D, CRX, CRB1, MERTK, LRAT, RDH12, RD3, CABP4, IQCB1, LCA5, MYO7A, CNGA3 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
50 %
Macular Dystrophy Panel.

By Blueprint Genetics in Finland.

BEST1, ELOVL4, ABCA4, CNGB3, PRPH2, RPGR, RLBP1, PROM1, CRX, CRB1, RS1, RP1L1, IMPG2, RDH12, CERKL, C1QTNF5, TIMP3, RDH5, EFEMP1, MFSD8 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
50 %
Cone Rod Dystrophy Panel.

By Blueprint Genetics in Finland.

AIPL1, BEST1, ABCA4, CACNA1F, CNGB3, PRPH2, RPGRIP1, RPGR, PROM1, GUCY2D, CRX, CRB1, C8orf37, MERTK, GNAT2, CDHR1, PDE6C, ADAM9, CACNA2D4, CABP4 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
50 %
Retinitis Pigmentosa Panel.

By Blueprint Genetics in Finland.

ABHD12, ZNF513, AIPL1, USH1C, BEST1, SPATA7, PRKCG, CHM, RP1, INPP5E, ABCA4, MFRP, ARL6, CEP290, CLRN1, TTC8, USH2A, PRPH2, TULP1, SAG , (...)

View the complete list with 90 more genes
Specificity
1 %
Genes
50 %
CONE-ROD DYSTROPHY (AUTOSOMAL DOMINANT).

By Laboratorio de Genetica Clinica SL in Spain.

AIPL1, GUCY2D, CRX, GUCA1A
Specificity
25 %
Genes
50 %
LEBER CONGENITAL AMAUROSIS.

By Laboratorio de Genetica Clinica SL in Spain.

AIPL1, SPATA7, KCNJ13, CEP290, TULP1, RPGRIP1, RPE65, IMPDH1, GUCY2D, CRX, CRB1, LRAT, RDH12, RD3, LCA5
Specificity
7 %
Genes
50 %
Cone-Rod Dystrophy Type 2 , Sequencing CRX Gene.

By Reference Laboratory Genetics in Spain.

CRX
Specificity
100 %
Genes
50 %
Autosomal Dominant Retinitis Pigmentosa, Panel Massive Sequencing (NGS) 27 Genes.

By Reference Laboratory Genetics in Spain.

BEST1, RP1, ABCA4, PRPH2, RPGR, RPE65, RHO, IMPDH1, CRX, PRPF6, GUCA1B, RGR, NRL, KLHL7, RDH12, SNRNP200, SEMA4A, TOPORS, FSCN2, CA4 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
50 %
Cone Rod Distrophy , Panel Massive Sequencing (NGS) 30 Genes.

By Reference Laboratory Genetics in Spain.

AIPL1, BEST1, ABCA4, CACNA1F, CNGB3, PRPH2, RPGRIP1, RPGR, PROM1, GUCY2D, CRX, C8orf37, CDHR1, PDE6C, ADAM9, CACNA2D4, CABP4, KCNV2, SEMA4A, RGS9 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
50 %
Leber Congenital Amaurosis , Panel Massive Sequencong (NGS) 17 Genes.

By Reference Laboratory Genetics in Spain.

AIPL1, SPATA7, KCNJ13, CEP290, TULP1, RPGRIP1, RPE65, IMPDH1, GUCY2D, CRX, CRB1, LRAT, RDH12, RD3, IQCB1, LCA5, NMNAT1
Specificity
6 %
Genes
50 %
Retinitis Pigmentosa (Complet Panel) , Panel Massive Sequencing (NGS) 57 Genes.

By Reference Laboratory Genetics in Spain.

ZNF513, BEST1, SPATA7, RP1, ABCA4, TTC8, USH2A, PRPH2, TULP1, SAG, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, CRX, CRB1, IDH3B , (...)

View the complete list with 37 more genes
Specificity
2 %
Genes
50 %
Nonsyndromic Autosomal Dominant Retinitis Pigmentosa: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

BEST1, RP1, PRPH2, RPE65, RHO, IMPDH1, CRX, PRPF6, GUCA1B, NRL, KLHL7, RDH12, SNRNP200, SEMA4A, TOPORS, FSCN2, CA4, PRPF31, PRPF8, HK1 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
50 %

Alternate names

Macular Dystrophy, Concentric Annular Is also known as mcdca, macular dystrophy, benign concentric annular;bcamd;.



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PRECOCIOUS PUBERTY, CENTRAL, 1; CPPB1 LEBER CONGENITAL AMAUROSIS 10; LCA10 HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7; HHF7 BOUCHER-NEUHAUSER SYNDROME; BNHS HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN-BETA-THALASSEMIA SYNDROME MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Y; LGMD2Y

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more