ABCA4 gene related symptoms and diseases

All the information presented here about the ABCA4 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ABCA4 gene

Symptoms // Phenotype % Cases
Nyctalopia Common - Between 50% and 80% cases
Macular degeneration Uncommon - Between 30% and 50% cases
Visual impairment Uncommon - Between 30% and 50% cases
Photophobia Uncommon - Between 30% and 50% cases
Abnormality of color vision Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with ABCA4 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Retinal pigment epithelial atrophy
  • Retinal degeneration
  • Blindness
  • Reduced visual acuity
  • Rarely - Less than 30% cases

  • Abnormal electroretinogram
  • Visual loss
  • Abnormality of skin pigmentation
  • Scotoma

And 53 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to ABCA4 gene

Here you will find a list of rare diseases related to the ABCA4. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


MACULAR DEGENERATION, AGE-RELATED, 2; ARMD2


Alternate names

MACULAR DEGENERATION, AGE-RELATED, 2; ARMD2 Is also known as maculopathy, age-related, 2, macular degeneration, senile

Most common symptoms of MACULAR DEGENERATION, AGE-RELATED, 2; ARMD2

  • Macular degeneration


More info about MACULAR DEGENERATION, AGE-RELATED, 2; ARMD2

SOURCES: MESH OMIM

RETINITIS PIGMENTOSA 19; RP19


Most common symptoms of RETINITIS PIGMENTOSA 19; RP19

  • Visual impairment
  • Blindness
  • Rod-cone dystrophy
  • Reduced visual acuity
  • Pallor


More info about RETINITIS PIGMENTOSA 19; RP19

SOURCES: MESH OMIM

RETINITIS PIGMENTOSA


Description

Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades.

Most common symptoms of RETINITIS PIGMENTOSA

  • Intellectual disability
  • Nystagmus
  • Sensorineural hearing impairment
  • Cataract
  • Visual impairment


More info about RETINITIS PIGMENTOSA

SOURCES: ORPHANET

CONE ROD DYSTROPHY


Alternate names

CONE ROD DYSTROPHY Is also known as human retinal gene 4, hrg4

Description

Cone rod dystrophies (CRDs) are inherited retinal dystrophies that belong to the group of pigmentary retinopathies.

Most common symptoms of CONE ROD DYSTROPHY

  • Visual impairment
  • Photophobia
  • Nyctalopia
  • Retinal degeneration
  • Abnormality of retinal pigmentation


More info about CONE ROD DYSTROPHY

SOURCES: ORPHANET OMIM

CONE-ROD DYSTROPHY 3; CORD3


Most common symptoms of CONE-ROD DYSTROPHY 3; CORD3

  • Visual loss
  • Retinal degeneration
  • Abnormality of skin pigmentation
  • Cone/cone-rod dystrophy
  • Abnormality of color vision


More info about CONE-ROD DYSTROPHY 3; CORD3

SOURCES: OMIM MESH

STARGARDT DISEASE


Alternate names

STARGARDT DISEASE Is also known as fundus flavimaculatus, stargardt 1

Description

Stargardt disease, also known as Stargardt 1 (STGD1), is an autosomal recessive form of retinal dystrophy that is usually characterized by a progressive loss of central vision associated with irregular macular and perimacular yellow-white fundus flecks, and a so-called ''beaten bronze'' atrophic central macular lesion.

Most common symptoms of STARGARDT DISEASE

  • Reduced visual acuity
  • Nyctalopia
  • Macular degeneration
  • Abnormality of color vision
  • Central scotoma


More info about STARGARDT DISEASE

SOURCES: ORPHANET

SEVERE EARLY-CHILDHOOD-ONSET RETINAL DYSTROPHY


Alternate names

SEVERE EARLY-CHILDHOOD-ONSET RETINAL DYSTROPHY Is also known as secord, macular degeneration, juvenile, macular dystrophy with flecks, type 1, eosrd, stgd, early-onset severe retinal dystrophy

Description

Severe early childhood onset retinal dystrophy (SECORD) is an inherited retinal dystrophy characterized by a severe congenital night blindness, progressive retinal dystrophy and nystagmus. Best corrected visual acuity can reach 0.3 in the first decade of life and can pertain well into the second decade of life. Blindness is often complete by the age of 30 years.

Most common symptoms of SEVERE EARLY-CHILDHOOD-ONSET RETINAL DYSTROPHY

  • Blindness
  • Visual loss
  • Reduced visual acuity
  • Photophobia
  • Nyctalopia


More info about SEVERE EARLY-CHILDHOOD-ONSET RETINAL DYSTROPHY

SOURCES: ORPHANET OMIM


Potential gene panels for ABCA4 gene

MitoMet®Plus aCGH Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65

More info about this panel

ABCA4 Comprehensive - Sequence & Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the ABCA4 gene.

More info about this panel

ABCA4 Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the ABCA4 gene.

More info about this panel

ABCA4 Deletion/Duplication Analysis (Prenatal Diagnosis) Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the ABCA4 gene.

More info about this panel

ABCA4 Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the ABCA4 gene.

More info about this panel

ABCA4 Sequence Analysis (Familial Mutation/Variant Analysis) Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the ABCA4 gene.

More info about this panel

ABCA4 Sequence Analysis (Prenatal Diagnosis) Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the ABCA4 gene.

More info about this panel

Cone-Rod Dystrophy Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Cone-Rod Dystrophy Panel that also includes the following genes: RPGR CNNM4 SEMA4A TULP1 CFAP410 BEST1 RPGRIP1 CACNA1F CDHR1 RIMS1

More info about this panel

Macular Degeneration Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Macular Degeneration Panel that also includes the following genes: RPGR TIMP3 BEST1 C1QTNF5 ELOVL4 RP1L1 CDH3 RAX2 IMPG2 HMCN1

More info about this panel

Retinitis Pigmentosa Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Retinitis Pigmentosa Panel that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR SAG SEMA4A

More info about this panel

Stargardt, arRP, Age-Related Macular Degeneration, CORD3 - ABCA4 Sequencing Panel

United States.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado

This panel specifically test the ABCA4 gene.

More info about this panel

ABCA4 Sequencing Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the ABCA4 gene.

More info about this panel

ABCA4 Deletion/duplication analysis Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the ABCA4 gene.

More info about this panel

ABCA4 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the ABCA4 gene.

More info about this panel

Retinitis Pigmentosa/Leber Congenital Amaurosis Panel, Sequencing and Deletion/Duplication Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Retinitis Pigmentosa/Leber Congenital Amaurosis Panel, Sequencing and Deletion/Duplication that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR SAG SEMA4A

More info about this panel

ABCA4 mutation analysis Panel

Netherlands.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam

This panel specifically test the ABCA4 gene.

More info about this panel

ABCA4, CRX, GUCY2D. NextGeneDx.Complete sequencing by NGS Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica ABCA4, CRX, GUCY2D. NextGeneDx.Complete sequencing by NGS that also includes the following genes: CRX ABCA4 GUCY2D

More info about this panel

ABCA4. MLPA testing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the ABCA4 gene.

More info about this panel

ABCA4. NextGeneDx.Complete sequencing by NGS Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the ABCA4 gene.

More info about this panel

ABCA4. Genotyping array (558 mutations) Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the ABCA4 gene.

More info about this panel

ABCA4. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the ABCA4 gene.

More info about this panel

ABCA4. MLPA testing (Salsa P152) Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the ABCA4 gene.

More info about this panel

ABCA4. MLPA testing (Salsa P151) Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the ABCA4 gene.

More info about this panel

Cone-rod dystrophy (NGS panel of 36 genes) Panel

Portugal.

By CGC Genetics Cone-rod dystrophy (NGS panel of 36 genes) that also includes the following genes: RGS9 RPGR CNNM4 SEMA4A BEST1 RPGRIP1 CABP4 CACNA1F CDHR1 RIMS1

More info about this panel

Stargardt disease and macular distrophy (NGS panel for 14 genes) Panel

Portugal.

By CGC Genetics Stargardt disease and macular distrophy (NGS panel for 14 genes) that also includes the following genes: RPGR TIMP3 BEST1 C1QTNF5 ELOVL4 RP1L1 CDH3 RDH12 CNGB3 ABCA4

More info about this panel

Stargardt disease type 1 (deletion/duplication analysis of ABCA4 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ABCA4 gene.

More info about this panel

Stargardt disease type 1 (sequence analysis of ABCA4 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ABCA4 gene.

More info about this panel

Retinitis pigmentosa (NGS panel for 72 genes) Panel

Portugal.

By CGC Genetics Retinitis pigmentosa (NGS panel for 72 genes) that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR SAG SEMA4A

More info about this panel

Retinitis pigmentosa, AR and X-linked (NGS panel for 53 genes) Panel

Portugal.

By CGC Genetics Retinitis pigmentosa, AR and X-linked (NGS panel for 53 genes) that also includes the following genes: RHO RLBP1 RP1 RP2 RPE65 RPGR SAG TUB TULP1 USH2A

More info about this panel

Retinitis pigmentosa 19 (sequence analysis of ABCA4 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ABCA4 gene.

More info about this panel

Retinitis pigmentosa 19 (deletion/duplication analysis on ABCA4 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ABCA4 gene.

More info about this panel

Retinitis pigmentosa 19 (deletion/duplication analysis on ABCA4 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ABCA4 gene.

More info about this panel

Retinitis pigmentosa 19 (sequence analysis of ABCA4 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ABCA4 gene.

More info about this panel

Autosomal Recessive Retinitis Pigmentosa Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Autosomal Recessive Retinitis Pigmentosa Sequencing Panel with CNV Detection that also includes the following genes: RHO RLBP1 RP1 RPE65 SAG SEMA4A TULP1 USH2A CLRN1 BEST1

More info about this panel

Retinitis Pigmentosa (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Retinitis Pigmentosa (includes RPGR ORF15) Sequencing Panel with CNV Detection that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RPE65 RPGR SAG SEMA4A TULP1

More info about this panel

Stargardt Disease (STGD) and Macular Dystrophies Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Stargardt Disease (STGD) and Macular Dystrophies Sequencing Panel with CNV Detection that also includes the following genes: RLBP1 RPGR RS1 TIMP3 BEST1 RPGRIP1 C1QTNF5 ELOVL4 RP1L1 CDH3

More info about this panel

Flecked Retina Disorder Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Flecked Retina Disorder Sequencing Panel with CNV Detection that also includes the following genes: RHO RLBP1 RS1 ELOVL4 CHM VPS13B EFEMP1 ABCA4 LRAT PLA2G5

More info about this panel

Cone-Rod Dystrophy Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Cone-Rod Dystrophy Sequencing Panel with CNV Detection that also includes the following genes: RGS9 RPGR CNNM4 SEMA4A CFAP410 BEST1 RPGRIP1 CABP4 CACNA1F CDHR1

More info about this panel

Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

More info about this panel

Stargardt disease (STGD), Fundus Flavimaculatus (FFM) or Retinal Dystrophy, Early-Onset Severe via ABCA4 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the ABCA4 gene.

More info about this panel

ABCA4-Related Retinitis Pigmentosa Panel

Germany.

By Bioscientia GmbH Center for Human Genetics

This panel specifically test the ABCA4 gene.

More info about this panel

Retinitis pigmentosa type 19, autosomal dominant Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ABCA4 gene.

More info about this panel

Retinal dystrophy, early-onset severe Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ABCA4 gene.

More info about this panel

Retinitis pigmentosa type 19, autosomal recessive Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ABCA4 gene.

More info about this panel

Cone-rod dystrophy type 3 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ABCA4 gene.

More info about this panel

Stargardt Disease type 1 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ABCA4 gene.

More info about this panel

Retinitis pigmentosa, autosomal recessive and X-linked Panel Panel

Germany.

By CeGaT GmbH Retinitis pigmentosa, autosomal recessive and X-linked Panel that also includes the following genes: RHO RLBP1 RP1 RP2 RPE65 RPGR SAG TUB TULP1 USH2A

More info about this panel

Cone Rod Dystrophies Panel Panel

Germany.

By CeGaT GmbH Cone Rod Dystrophies Panel that also includes the following genes: RGS9 RPGR CNNM4 SEMA4A CFAP410 RPGRIP1 CABP4 CACNA1F CDHR1 RIMS1

More info about this panel

Stargardt Disease and Macular Dystrophies Panel Panel

Germany.

By CeGaT GmbH Stargardt Disease and Macular Dystrophies Panel that also includes the following genes: RPGR TIMP3 BEST1 C1QTNF5 ELOVL4 RP1L1 CDH3 IMPG2 TTLL5 RDH12

More info about this panel

Single gene testing ABCA4 Panel

Germany.

By CeGaT GmbH

This panel specifically test the ABCA4 gene.

More info about this panel

Stargardt Disease, Cone-Rod Dystrophy Panel

Estonia.

By Asper Biogene Asper Biogene LLC Stargardt Disease, Cone-Rod Dystrophy that also includes the following genes: ELOVL4 CNGB3 ABCA4 PROM1

More info about this panel

Autosomal Recessive Retinitis Pigmentosa Panel

Estonia.

By Asper Biogene Asper Biogene LLC Autosomal Recessive Retinitis Pigmentosa that also includes the following genes: RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR SAG

More info about this panel

Cone-Rod Dystrophy Panel

Estonia.

By Asper Biogene Asper Biogene LLC Cone-Rod Dystrophy that also includes the following genes: RPGR CNNM4 SEMA4A BEST1 RPGRIP1 CABP4 CACNA1F CDHR1 RIMS1 RAX2

More info about this panel

Eye diseases comprehensive panel Panel

Estonia.

By Asper Biogene Asper Biogene LLC Eye diseases comprehensive panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

More info about this panel

ABCA4-Related Retinitis Pigmentosa Panel

Germany.

By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics

This panel specifically test the ABCA4 gene.

More info about this panel

ABCA4-Related Stargardt Disease 1 Panel

Germany.

By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics

This panel specifically test the ABCA4 gene.

More info about this panel

Stargardt Panel Panel

United States.

By Molecular Vision Laboratory Stargardt Panel that also includes the following genes: TIMP3 BEST1 ELOVL4 RP1L1 CDH3 IMPG2 TTLL5 DRAM2 EFEMP1 ABCA4

More info about this panel

Retinal Dystrophy Panel Panel

United States.

By Molecular Vision Laboratory Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

More info about this panel

Cone Rod Dystrophy panel Panel

United States.

By Molecular Vision Laboratory Cone Rod Dystrophy panel that also includes the following genes: RPGR CNNM4 SEMA4A CFAP410 RPGRIP1 CACNA1F CDHR1 RIMS1 RAX2 KCNV2

More info about this panel

ABCA4 single-gene sequencing Panel

United States.

By Molecular Vision Laboratory

This panel specifically test the ABCA4 gene.

More info about this panel

qCarrier Plus Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qCarrier Plus that also includes the following genes: RMRP RP2 RPE65 RPGR RPS6KA3 RS1 SACS SGCA SGCB SGSH

More info about this panel

Cone-Rod dystrophy type 3 (Stargardt disease): ABCA4 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the ABCA4 gene.

More info about this panel

RETINITIS PIGMENTOSA A.R. Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases RETINITIS PIGMENTOSA A.R. that also includes the following genes: RHO RLBP1 RP1 RP2 RPE65 RPGR SAG TULP1 USH2A BEST1

More info about this panel

STARGARDT SYNDROME Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases STARGARDT SYNDROME that also includes the following genes: RPGR TIMP3 BEST1 C1QTNF5 ELOVL4 RP1L1 CDH3 RDH12 CNGB3 ABCA4

More info about this panel

RETINITIS PIGMENTOSA A.D Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases RETINITIS PIGMENTOSA A.D that also includes the following genes: RHO ROM1 RP1 RP2 RP9 RPE65 RPGR SEMA4A BEST1 CA4

More info about this panel

RETINITIS PIGMENTOSA Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases RETINITIS PIGMENTOSA that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR SAG SEMA4A

More info about this panel

Cone rod dystrophy Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Cone rod dystrophy that also includes the following genes: RGS9 RPGR CNNM4 SEMA4A BEST1 RPGRIP1 CABP4 CACNA1F CDHR1 RIMS1

More info about this panel

Achromatopsia, Cone, and Cone-rod Dystrophy: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Achromatopsia, Cone, and Cone-rod Dystrophy: Sequencing Panel that also includes the following genes: RGS9 RPGR CNNM4 SEMA4A BEST1 RPGRIP1 CABP4 CACNA1F CDHR1 RIMS1

More info about this panel

Flecked-retina Disorders: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Flecked-retina Disorders: Sequencing Panel that also includes the following genes: RHO RLBP1 ABCA4 PLA2G5 RDH5 PRPH2

More info about this panel

Eye Disorders: Comprehensive Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Eye Disorders: Comprehensive Sequencing Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR RS1

More info about this panel

Macular Dystrophy / Degeneration / Stargardt Disease: Sequencing and Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Macular Dystrophy / Degeneration / Stargardt Disease: Sequencing and Deletion/Duplication Panel that also includes the following genes: RPGR TIMP3 BEST1 RPGRIP1 ELOVL4 CDH3 RDH12 CNGB3 EFEMP1 ABCA4

More info about this panel

Retinitis Pigmentosa: Sequencing and Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Retinitis Pigmentosa: Sequencing and Deletion/Duplication Panel that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR SAG SEMA4A

More info about this panel

Retina/Photoreceptor Dystrophy: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Retina/Photoreceptor Dystrophy: Sequencing Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR CNNM4

More info about this panel

Achromatopsia, Cone, and Cone-rod Dystrophy: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Achromatopsia, Cone, and Cone-rod Dystrophy: Deletion/Duplication Panel that also includes the following genes: RGS9 RPGR CNNM4 SEMA4A BEST1 RPGRIP1 CABP4 CACNA1F CDHR1 RIMS1

More info about this panel

Eye Disorders: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Eye Disorders: Deletion/Duplication Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR RS1

More info about this panel

Flecked-retina Disorders: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Flecked-retina Disorders: Deletion/Duplication Panel that also includes the following genes: RHO RLBP1 ABCA4 PLA2G5 RDH5 PRPH2

More info about this panel

Eye Disorders NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Eye Disorders NGS Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR CNNM4

More info about this panel

Cone-Rod Dystrophy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Cone-Rod Dystrophy NGS Panel that also includes the following genes: CNNM4 SEMA4A BEST1 RPGRIP1 CACNA1F CDHR1 RIMS1 RAX2 KCNV2 CACNA2D4

More info about this panel

Macular Degeneration NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Macular Degeneration NGS Panel that also includes the following genes: RLBP1 RPGR CFB TLR4 C2 C3 ELOVL4 RAX2 HMCN1 CNGB3

More info about this panel

Retinitis Pigmentosa NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Retinitis Pigmentosa NGS Panel that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR SAG SEMA4A

More info about this panel

ABCA4 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ABCA4 gene.

More info about this panel

Retinal Dystrophy Panel Panel

Finland.

By Blueprint Genetics Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RPE65 RPGR RS1 CNNM4

More info about this panel

Flecked Retina Disorders Panel Panel

Finland.

By Blueprint Genetics Flecked Retina Disorders Panel that also includes the following genes: RHO RLBP1 RS1 ELOVL4 CHM VPS13B CYP4V2 ABCA4 PLA2G5 PROM1

More info about this panel

Macular Dystrophy Panel Panel

Finland.

By Blueprint Genetics Macular Dystrophy Panel that also includes the following genes: RLBP1 RPGR RS1 TIMP3 BEST1 PRDM13 C1QTNF5 ELOVL4 RP1L1 CDH3

More info about this panel

Cone Rod Dystrophy Panel Panel

Finland.

By Blueprint Genetics Cone Rod Dystrophy Panel that also includes the following genes: RGS9 RPGR CNNM4 SEMA4A CFAP410 BEST1 RPGRIP1 CABP4 CACNA1F CDHR1

More info about this panel

Retinitis Pigmentosa Panel Panel

Finland.

By Blueprint Genetics Retinitis Pigmentosa Panel that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RPE65 RPGR RS1 SAG CWC27

More info about this panel

Stargardt disease Panel

Spain.

By Bioarray

This panel specifically test the ABCA4 gene.

More info about this panel

CONE-ROD DYSTROPHY (AUTOSOMAL RECESSIVE) Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the ABCA4 gene.

More info about this panel

STARGARDT DISEASE TYPE 1 (FUNDUS FLAVIMACULATUS) Panel

Spain.

By Laboratorio de Genetica Clinica SL STARGARDT DISEASE TYPE 1 (FUNDUS FLAVIMACULATUS) that also includes the following genes: CNGB3 ABCA4

More info about this panel

RETINITIS PIGMENTOSA (AUTOSOMAL RECESSIVE) Panel

Spain.

By Laboratorio de Genetica Clinica SL RETINITIS PIGMENTOSA (AUTOSOMAL RECESSIVE) that also includes the following genes: GRK1 RPE65 SAG USH2A EYS CERKL CRB1 ABCA4 PDE6A PDE6B

More info about this panel

CONE-ROD DYSTROPHY Panel

Spain.

By Laboratorio de Genetica Clinica SL CONE-ROD DYSTROPHY that also includes the following genes: RGS9 RPGR CNNM4 SEMA4A BEST1 RPGRIP1 CABP4 CACNA1F CDHR1 RIMS1

More info about this panel

RETINITIS PIGMENTOSA NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL RETINITIS PIGMENTOSA NGS PANEL that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR SAG SEMA4A

More info about this panel

Stargardt Disease Type 1 , Sequencing ABCA4 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the ABCA4 gene.

More info about this panel

Cone Rod Distrophy Type 3 , Sequencing ABCA4 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the ABCA4 gene.

More info about this panel

Stargardt Disease Type 1 , Deletions-Duplications (MLPA) ABCA4 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the ABCA4 gene.

More info about this panel

Autosomal Recessive and Sporadic Retinitis Pigmentosa, Panel Massive Sequencing (NGS) 41 Genes Panel

Spain.

By Reference Laboratory Genetics Autosomal Recessive and Sporadic Retinitis Pigmentosa, Panel Massive Sequencing (NGS) 41 Genes that also includes the following genes: RHO RLBP1 RP1 RP2 RPE65 RPGR SAG TULP1 USH2A BEST1

More info about this panel

Autosomal Dominant Retinitis Pigmentosa, Panel Massive Sequencing (NGS) 27 Genes Panel

Spain.

By Reference Laboratory Genetics Autosomal Dominant Retinitis Pigmentosa, Panel Massive Sequencing (NGS) 27 Genes that also includes the following genes: RHO ROM1 RP1 RP2 RP9 RPE65 RPGR SEMA4A BEST1 CA4

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Macular Degeneration Related Disorders , Panel Massive Sequencing (NGS) 15 Genes Panel

Spain.

By Reference Laboratory Genetics Macular Degeneration Related Disorders , Panel Massive Sequencing (NGS) 15 Genes that also includes the following genes: CFB C2 C3 C9 RAX2 HMCN1 CST3 CX3CR1 ARMS2 ABCA4

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Cone Rod Distrophy , Panel Massive Sequencing (NGS) 30 Genes Panel

Spain.

By Reference Laboratory Genetics Cone Rod Distrophy , Panel Massive Sequencing (NGS) 30 Genes that also includes the following genes: RGS9 RPGR CNNM4 SEMA4A BEST1 RPGRIP1 CABP4 CACNA1F CDHR1 RIMS1

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Stargardt Disease , Panel Massive Sequencing (NGS) 5 Genes Panel

Spain.

By Reference Laboratory Genetics Stargardt Disease , Panel Massive Sequencing (NGS) 5 Genes that also includes the following genes: ELOVL4 CNGB3 ABCA4 PROM1 PRPH2

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Retinitis Pigmentosa (Complet Panel) , Panel Massive Sequencing (NGS) 57 Genes Panel

Spain.

By Reference Laboratory Genetics Retinitis Pigmentosa (Complet Panel) , Panel Massive Sequencing (NGS) 57 Genes that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR SAG SEMA4A

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Stargardt Disease , Panel Massive Sequencing (NGS) 12 Genes Panel

Spain.

By Reference Laboratory Genetics Stargardt Disease , Panel Massive Sequencing (NGS) 12 Genes that also includes the following genes: TIMP3 BEST1 C1QTNF5 ELOVL4 RP1L1 CDH3 RDH12 CNGB3 ABCA4 FSCN2

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Nonsyndromic Autosomal Recessive retinitis pigmentosa: gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Nonsyndromic Autosomal Recessive retinitis pigmentosa: gene sequencing panel that also includes the following genes: RHO RLBP1 RP1 RPE65 SAG TULP1 USH2A CLRN1 BEST1 ARL6

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