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: NCBIGENE,HGNC,ORPHANET,OMIM.

Top 5 symptoms associated to ABCA4 gene



Symptoms // Phenotype % Cases
Nyctalopia Common - Between 50% and 80% cases
Abnormal electroretinogram Uncommon - Between 30% and 50% cases
Blindness Uncommon - Between 30% and 50% cases
Retinal degeneration Uncommon - Between 30% and 50% cases
Photophobia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with ABCA4 gene alterations may also develop some of the following symptoms and phenotypes:

Not very common - Between 30% and 50% cases

Abnormality of color vision Central scotoma Reduced visual acuity Macular degeneration Retinal pigment epithelial atrophy Visual impairment

Rarely - Less than 30% cases

Visual loss Tics

And 60 more phenotypes.

Mendelian

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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.


CONE-ROD DYSTROPHY 3; CORD3

Most common symptoms of CONE-ROD DYSTROPHY 3; CORD3

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


More info about CONE-ROD DYSTROPHY 3; CORD3

SOURCES: GARD UMLS MONDO MESH DOID OMIM

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

  • Autosomal dominant inheritance
  • Macular degeneration


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

SOURCES: MESH OMIM DOID UMLS MONDO

RETINITIS PIGMENTOSA 19; RP19

Most common symptoms of RETINITIS PIGMENTOSA 19; RP19

  • Autosomal recessive inheritance
  • Visual impairment
  • Pain
  • Blindness
  • Rod-cone dystrophy


More info about RETINITIS PIGMENTOSA 19; RP19

SOURCES: MONDO OMIM DOID MESH UMLS GARD

STARGARDT DISEASE 1; STGD1

Alternate names

STARGARDT DISEASE 1; STGD1 Is also known as stgd, macular degeneration, juvenile, macular dystrophy with flecks, type 1;eosrd; early-onset severe retinal dystrophy; secord

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 STARGARDT DISEASE 1; STGD1

  • Autosomal recessive inheritance
  • Pica
  • Milia
  • Tics
  • Blindness


More info about STARGARDT DISEASE 1; STGD1

SOURCES: MONDO ORPHANET OMIM ICD10

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: SCTID ORPHANET

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 SCTID

UNC119, C. ELEGANS, HOMOLOG OF; UNC119

Alternate names

UNC119, C. ELEGANS, HOMOLOG OF; UNC119 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 UNC119, C. ELEGANS, HOMOLOG OF; UNC119

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


More info about UNC119, C. ELEGANS, HOMOLOG OF; UNC119

SOURCES: ORPHANET OMIM

Potential gene panels for ABCA4 gene

MitoMet®Plus aCGH Analysis Panel

By Baylor Miraca Genetics Laboratories in United States. MitoMet®Plus aCGH Analysis that also includes the following genes: BRCA1 MTHFR UBE3A VHL MUTYH TP53 MCCC1 MCCC2 AARS2 ABCB11

More info about this panel

ABCA4 Comprehensive - Sequence & Deletion/Duplication Analysis Panel

By Baylor Miraca Genetics Laboratories in United States.

This panel specifically test the ABCA4 gene.

More info about this panel

ABCA4 Deletion/Duplication Analysis Panel

By Baylor Miraca Genetics Laboratories in United States.

This panel specifically test the ABCA4 gene.

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ABCA4 Deletion/Duplication Analysis (Prenatal Diagnosis) Panel

By Baylor Miraca Genetics Laboratories in United States.

This panel specifically test the ABCA4 gene.

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ABCA4 Sequence Analysis Panel

By Baylor Miraca Genetics Laboratories in United States.

This panel specifically test the ABCA4 gene.

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ABCA4 Sequence Analysis (Familial Mutation/Variant Analysis) Panel

By Baylor Miraca Genetics Laboratories in United States.

This panel specifically test the ABCA4 gene.

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ABCA4 Sequence Analysis (Prenatal Diagnosis) Panel

By Baylor Miraca Genetics Laboratories in United States.

This panel specifically test the ABCA4 gene.

More info about this panel

Cone-Rod Dystrophy Panel Panel

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. Cone-Rod Dystrophy Panel that also includes the following genes: AIPL1 BEST1 ABCA4 CACNA1F CNGB3 PRPH2 TULP1 RPGRIP1 RPGR PROM1

More info about this panel

Macular Degeneration Panel Panel

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. Macular Degeneration Panel that also includes the following genes: BEST1 FBLN5 ELOVL4 ABCA4 OTX2 CNGB3 PRPH2 RPGR PROM1 GUCA1B

More info about this panel

Retinitis Pigmentosa Panel Panel

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. Retinitis Pigmentosa Panel that also includes the following genes: ABHD12 ZNF513 AIPL1 BEST1 NEUROD1 SPATA7 PRKCG CHM RP1 ABCA4

More info about this panel

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

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

This panel specifically test the ABCA4 gene.

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ABCA4 Sequencing Panel

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

This panel specifically test the ABCA4 gene.

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ABCA4 Deletion/duplication analysis Panel

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

This panel specifically test the ABCA4 gene.

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ABCA4 Panel

By Institute for Human Genetics University Clinic Freiburg in Germany.

This panel specifically test the ABCA4 gene.

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Retinitis Pigmentosa/Leber Congenital Amaurosis Panel, Sequencing and Deletion/Duplication, 53 Genes Panel

By ARUP Laboratories, Molecular Genetics and Genomics in United States. Retinitis Pigmentosa/Leber Congenital Amaurosis Panel, Sequencing and Deletion/Duplication, 53 Genes that also includes the following genes: AIPL1 BEST1 SPATA7 RP1 ABCA4 CEP290 TTC8 USH2A PRPH2 TULP1

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ABCA4 mutation analysis Panel

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

This panel specifically test the ABCA4 gene.

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

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

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ABCA4. MLPA testing Panel

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

This panel specifically test the ABCA4 gene.

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ABCA4. NextGeneDx.Complete sequencing by NGS Panel

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

This panel specifically test the ABCA4 gene.

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ABCA4. Genotyping array (558 mutations) Panel

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

This panel specifically test the ABCA4 gene.

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ABCA4. Complete sequencing Panel

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

This panel specifically test the ABCA4 gene.

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ABCA4. MLPA testing (Salsa P152) Panel

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

This panel specifically test the ABCA4 gene.

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ABCA4. MLPA testing (Salsa P151) Panel

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

This panel specifically test the ABCA4 gene.

More info about this panel

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

By CGC Genetics in Portugal. Cone-rod dystrophy (NGS panel of 36 genes) that also includes the following genes: AIPL1 BEST1 ABCA4 CACNA1F CNGB3 PRPH2 RPGRIP1 RPGR PROM1 GUCY2D

More info about this panel

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

By CGC Genetics in Portugal. Stargardt disease and macular distrophy (NGS panel for 14 genes) that also includes the following genes: BEST1 ELOVL4 ABCA4 CNGB3 PRPH2 RPGR PROM1 RP1L1 RDH12 FSCN2

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

By CGC Genetics in Portugal.

This panel specifically test the ABCA4 gene.

More info about this panel

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

By CGC Genetics in Portugal.

This panel specifically test the ABCA4 gene.

More info about this panel

Retinitis pigmentosa (NGS panel for 72 genes) Panel

By CGC Genetics in Portugal. Retinitis pigmentosa (NGS panel for 72 genes) that also includes the following genes: ZNF513 BEST1 SPATA7 RP1 ABCA4 ARL6 CLRN1 TTC8 USH2A PRPH2

More info about this panel

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

By CGC Genetics in Portugal. Retinitis pigmentosa, AR and X-linked (NGS panel for 53 genes) that also includes the following genes: ZNF513 BEST1 SPATA7 RP1 ABCA4 TTC8 USH2A TULP1 SAG RPGR

More info about this panel

Retinitis pigmentosa 19 (sequence analysis of ABCA4 gene) Panel

By CGC Genetics in Portugal.

This panel specifically test the ABCA4 gene.

More info about this panel

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

By CGC Genetics in Portugal.

This panel specifically test the ABCA4 gene.

More info about this panel

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

By CGC Genetics in Portugal.

This panel specifically test the ABCA4 gene.

More info about this panel

Retinitis pigmentosa 19 (sequence analysis of ABCA4 gene) Panel

By CGC Genetics in Portugal.

This panel specifically test the ABCA4 gene.

More info about this panel

Autosomal Recessive Retinitis Pigmentosa Sequencing Panel with CNV Detection Panel

By PreventionGenetics PreventionGenetics in United States. Autosomal Recessive Retinitis Pigmentosa Sequencing Panel with CNV Detection that also includes the following genes: ABHD12 ZNF513 AIPL1 BEST1 NEUROD1 SPATA7 RP1 INPP5E ABCA4 MFRP

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

By PreventionGenetics PreventionGenetics in United States. Retinitis Pigmentosa (includes RPGR ORF15) Sequencing Panel with CNV Detection that also includes the following genes: ABHD12 ZNF513 AIPL1 BEST1 NEUROD1 SPATA7 PRKCG CHM RP1 INPP5E

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

By PreventionGenetics PreventionGenetics in United States. Stargardt Disease (STGD) and Macular Dystrophies Sequencing Panel with CNV Detection that also includes the following genes: BEST1 ELOVL4 ABCA4 CNGB3 PRPH2 RPGRIP1 RPGR RLBP1 PROM1 CRB1

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Flecked Retina Disorder Sequencing Panel with CNV Detection Panel

By PreventionGenetics PreventionGenetics in United States. Flecked Retina Disorder Sequencing Panel with CNV Detection that also includes the following genes: CHM ELOVL4 ABCA4 PRPH2 RLBP1 RHO PROM1 RS1 LRAT RDH5

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Cone-Rod Dystrophy Sequencing Panel with CNV Detection Panel

By PreventionGenetics PreventionGenetics in United States. Cone-Rod Dystrophy Sequencing Panel with CNV Detection that also includes the following genes: AIPL1 BEST1 ABCA4 CACNA1F CNGB3 PRPH2 RPGRIP1 RPGR PROM1 GUCY2D

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

By PreventionGenetics PreventionGenetics in United States. Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection that also includes the following genes: ABHD12 ZNF513 AIPL1 USH1G USH1C BEST1 C12orf65 INVS NEUROD1 SPATA7

More info about this panel

Stargardt disease (STGD), Fundus flavimaculatus (FFM) or Retinal dystrophy, early-onset severe via the ABCA4 gene Panel

By PreventionGenetics PreventionGenetics in United States.

This panel specifically test the ABCA4 gene.

More info about this panel

ABCA4-Related Retinitis Pigmentosa Panel

By Bioscientia GmbH Center for Human Genetics in Germany.

This panel specifically test the ABCA4 gene.

More info about this panel

Retinitis pigmentosa type 19, autosomal dominant Panel

By Centogene AG - the Rare Disease Company in Germany.

This panel specifically test the ABCA4 gene.

More info about this panel

Retinal dystrophy, early-onset severe Panel

By Centogene AG - the Rare Disease Company in Germany.

This panel specifically test the ABCA4 gene.

More info about this panel

Retinitis pigmentosa type 19, autosomal recessive Panel

By Centogene AG - the Rare Disease Company in Germany.

This panel specifically test the ABCA4 gene.

More info about this panel

Cone-rod dystrophy type 3 Panel

By Centogene AG - the Rare Disease Company in Germany.

This panel specifically test the ABCA4 gene.

More info about this panel

Stargardt Disease type 1 Panel

By Centogene AG - the Rare Disease Company in Germany.

This panel specifically test the ABCA4 gene.

More info about this panel

Retinitis pigmentosa, autosomal recessive and X-linked Panel Panel

By CeGaT GmbH in Germany. Retinitis pigmentosa, autosomal recessive and X-linked Panel that also includes the following genes: ZNF513 BEST1 SPATA7 RP1 ABCA4 CLRN1 TTC8 USH2A TULP1 SAG

More info about this panel

Cone Rod Dystrophies Panel Panel

By CeGaT GmbH in Germany. Cone Rod Dystrophies Panel that also includes the following genes: AIPL1 ABCA4 CACNA1F CNGB3 CEP290 PRPH2 RPGRIP1 RPGR PROM1 GUCY2D

More info about this panel

Stargardt Disease and Macular Dystrophies Panel Panel

By CeGaT GmbH in Germany. Stargardt Disease and Macular Dystrophies Panel that also includes the following genes: BEST1 ELOVL4 ABCA4 CNGB3 PRPH2 RPGR PROM1 CRX CRB1 RP1L1

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Single gene testing ABCA4 Panel

By CeGaT GmbH in Germany.

This panel specifically test the ABCA4 gene.

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Stargardt Disease, Cone-Rod Dystrophy Panel

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

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Autosomal Recessive Retinitis Pigmentosa Panel

By Asper Biogene Asper Biogene LLC in Estonia. Autosomal Recessive Retinitis Pigmentosa that also includes the following genes: ZNF513 AIPL1 BEST1 RP1 ABCA4 CNGB3 ARL6 CLRN1 TTC8 USH2A

More info about this panel

Cone-Rod Dystrophy Panel

By Asper Biogene Asper Biogene LLC in Estonia. Cone-Rod Dystrophy that also includes the following genes: AIPL1 BEST1 ABCA4 CACNA1F CNGB3 PRPH2 RPGRIP1 RPGR PROM1 GUCY2D

More info about this panel

Eye diseases comprehensive panel Panel

By Asper Biogene Asper Biogene LLC in Estonia. Eye diseases comprehensive panel that also includes the following genes: ABHD12 ZNF513 AIPL1 USH1G USH1C BEST1 INVS OPN1MW SPATA7 TYRP1

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ABCA4-Related Retinitis Pigmentosa Panel

By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics in Germany.

This panel specifically test the ABCA4 gene.

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ABCA4-Related Stargardt Disease 1 Panel

By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics in Germany.

This panel specifically test the ABCA4 gene.

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Stargardt Panel Panel

By Molecular Vision Laboratory in United States. Stargardt Panel that also includes the following genes: BEST1 ELOVL4 ABCA4 PRPH2 PROM1 RP1L1 IMPG2 TIMP3 EFEMP1 TTLL5

More info about this panel

Retinal Dystrophy Panel Panel

By Molecular Vision Laboratory in United States. Retinal Dystrophy Panel that also includes the following genes: ABHD12 ZNF513 AIPL1 USH1G USH1C BEST1 C12orf65 INVS OPN1MW OPN1LW

More info about this panel

Cone Rod Dystrophy panel Panel

By Molecular Vision Laboratory in United States. Cone Rod Dystrophy panel that also includes the following genes: AIPL1 ABCA4 CACNA1F CNGB3 PRPH2 RPGRIP1 RPGR PROM1 GUCY2D CRX

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ABCA4 single-gene sequencing Panel

By Molecular Vision Laboratory in United States.

This panel specifically test the ABCA4 gene.

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qCarrier Plus Panel

By Quantitative Genomic Medicine Laboratories, SL in Spain. qCarrier Plus that also includes the following genes: F2 F5 FMR1 MTHFR MCCC1 MCCC2 ABCB11 ACADM ACADS AGL

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

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

This panel specifically test the ABCA4 gene.

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RETINITIS PIGMENTOSA A.R. Panel

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. RETINITIS PIGMENTOSA A.R. that also includes the following genes: ZNF513 BEST1 SPATA7 RP1 ABCA4 TTC8 USH2A TULP1 SAG RPGR

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STARGARDT SYNDROME Panel

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. STARGARDT SYNDROME that also includes the following genes: BEST1 ELOVL4 ABCA4 CNGB3 PRPH2 RPGR PROM1 RP1L1 RDH12 FSCN2

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RETINITIS PIGMENTOSA A.D Panel

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. RETINITIS PIGMENTOSA A.D that also includes the following genes: BEST1 RP1 ABCA4 PRPH2 RPGR RPE65 RHO IMPDH1 CRX PRPF6

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RETINITIS PIGMENTOSA Panel

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. RETINITIS PIGMENTOSA that also includes the following genes: ZNF513 BEST1 SPATA7 RP1 ABCA4 TTC8 USH2A PRPH2 TULP1 SAG

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Cone rod dystrophy Panel

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. Cone rod dystrophy that also includes the following genes: AIPL1 BEST1 ABCA4 CACNA1F CNGB3 PRPH2 RPGRIP1 RPGR PROM1 GUCY2D

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

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. Achromatopsia, Cone, and Cone-rod Dystrophy: Sequencing Panel that also includes the following genes: AIPL1 BEST1 PAX6 ABCA4 CACNA1F CNGB3 CEP290 PRPH2 RPGRIP1 RPGR

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Flecked-retina Disorders: Sequencing Panel Panel

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

More info about this panel

Eye Disorders: Comprehensive Sequencing Panel Panel

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. Eye Disorders: Comprehensive Sequencing Panel that also includes the following genes: ABHD12 ZNF513 AIPL1 USH1G USH1C BEST1 INVS SPATA7 TYRP1 LRP5

More info about this panel

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

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. Macular Dystrophy / Degeneration / Stargardt Disease: Sequencing and Deletion/Duplication Panel that also includes the following genes: BEST1 ELOVL4 ABCA4 CNGB3 PRPH2 RPGRIP1 RPGR PROM1 GUCA1B RDH12

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Retinitis Pigmentosa: Sequencing and Deletion/Duplication Panel Panel

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. Retinitis Pigmentosa: Sequencing and Deletion/Duplication Panel that also includes the following genes: ZNF513 AIPL1 BEST1 SPATA7 RP1 ABCA4 CLRN1 TTC8 USH2A PRPH2

More info about this panel

Retina/Photoreceptor Dystrophy: Sequencing Panel Panel

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. Retina/Photoreceptor Dystrophy: Sequencing Panel that also includes the following genes: ZNF513 AIPL1 BEST1 SPATA7 LRP5 COL2A1 PAX6 CHM RP1 OPA1

More info about this panel

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

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. Achromatopsia, Cone, and Cone-rod Dystrophy: Deletion/Duplication Panel that also includes the following genes: AIPL1 BEST1 PAX6 ABCA4 CACNA1F CNGB3 CEP290 PRPH2 RPGRIP1 RPGR

More info about this panel

Eye Disorders: Deletion/Duplication Panel Panel

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. Eye Disorders: Deletion/Duplication Panel that also includes the following genes: ABHD12 ZNF513 AIPL1 USH1G USH1C BEST1 INVS SPATA7 TYRP1 LRP5

More info about this panel

Flecked-retina Disorders: Deletion/Duplication Panel Panel

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

More info about this panel

Eye Disorders NGS Panel Panel

By Fulgent Genetics Fulgent Genetics in United States. Eye Disorders NGS Panel that also includes the following genes: ZNF513 AIPL1 USH1C BEST1 INVS SPATA7 COL2A1 PAX6 CHM RB1

More info about this panel

Cone-Rod Dystrophy NGS Panel Panel

By Fulgent Genetics Fulgent Genetics in United States. Cone-Rod Dystrophy NGS Panel that also includes the following genes: AIPL1 BEST1 ABCA4 CACNA1F CNGB3 RPGRIP1 PROM1 GUCY2D CRX C8orf37

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Macular Degeneration NGS Panel Panel

By Fulgent Genetics Fulgent Genetics in United States. Macular Degeneration NGS Panel that also includes the following genes: FBLN5 TLR4 ELOVL4 ABCA4 CNGB3 PRPH2 RPGR RLBP1 EFEMP1 HTRA1

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Retinitis Pigmentosa NGS Panel Panel

By Fulgent Genetics Fulgent Genetics in United States. Retinitis Pigmentosa NGS Panel that also includes the following genes: ZNF513 AIPL1 USH1C BEST1 INVS SPATA7 RP1 WFS1 ABCA4 CACNA1F

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ABCA4 Panel

By Fulgent Genetics Fulgent Genetics in United States.

This panel specifically test the ABCA4 gene.

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Retinal Dystrophy Panel Panel

By Blueprint Genetics in Finland. Retinal Dystrophy Panel that also includes the following genes: ABHD12 ZNF513 AIPL1 USH1G USH1C BEST1 INVS SPATA7 MMACHC LRP5

More info about this panel

Flecked Retina Disorders Panel Panel

By Blueprint Genetics in Finland. Flecked Retina Disorders Panel that also includes the following genes: CHM ELOVL4 ABCA4 PRPH2 RLBP1 RHO PROM1 RS1 CYP4V2 RDH5

More info about this panel

Macular Dystrophy Panel Panel

By Blueprint Genetics in Finland. Macular Dystrophy Panel that also includes the following genes: BEST1 ELOVL4 ABCA4 CNGB3 PRPH2 RPGR RLBP1 PROM1 CRX CRB1

More info about this panel

Cone Rod Dystrophy Panel Panel

By Blueprint Genetics in Finland. Cone Rod Dystrophy Panel that also includes the following genes: AIPL1 BEST1 ABCA4 CACNA1F CNGB3 PRPH2 RPGRIP1 RPGR PROM1 GUCY2D

More info about this panel

Retinitis Pigmentosa Panel Panel

By Blueprint Genetics in Finland. Retinitis Pigmentosa Panel that also includes the following genes: ABHD12 ZNF513 AIPL1 USH1C BEST1 SPATA7 PRKCG CHM RP1 INPP5E

More info about this panel

Stargardt disease Panel

By Bioarray in Spain.

This panel specifically test the ABCA4 gene.

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CarrierMap Panel

By Recombine in United States. CarrierMap that also includes the following genes: FMR1 MTHFR MCCC1 MCCC2 ABCB11 ACADM ACADS AGL ACADVL ACAT1

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CONE-ROD DYSTROPHY (AUTOSOMAL RECESSIVE) Panel

By Laboratorio de Genetica Clinica SL in Spain.

This panel specifically test the ABCA4 gene.

More info about this panel

STARGARDT DISEASE TYPE 1 (FUNDUS FLAVIMACULATUS) Panel

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

More info about this panel

RETINITIS PIGMENTOSA (AUTOSOMAL RECESSIVE) Panel

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

More info about this panel

Stargardt Disease Type 1 , Sequencing ABCA4 Gene Panel

By Reference Laboratory Genetics in Spain.

This panel specifically test the ABCA4 gene.

More info about this panel

Cone Rod Distrophy Type 3 , Sequencing ABCA4 Gene Panel

By Reference Laboratory Genetics in Spain.

This panel specifically test the ABCA4 gene.

More info about this panel

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

By Reference Laboratory Genetics in Spain.

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

By Reference Laboratory Genetics in Spain. Autosomal Recessive and Sporadic Retinitis Pigmentosa, Panel Massive Sequencing (NGS) 41 Genes that also includes the following genes: ZNF513 BEST1 SPATA7 RP1 ABCA4 TTC8 USH2A TULP1 SAG RPGR

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

By Reference Laboratory Genetics in Spain. Autosomal Dominant Retinitis Pigmentosa, Panel Massive Sequencing (NGS) 27 Genes that also includes the following genes: BEST1 RP1 ABCA4 PRPH2 RPGR RPE65 RHO IMPDH1 CRX PRPF6

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

By Reference Laboratory Genetics in Spain. Macular Degeneration Related Disorders , Panel Massive Sequencing (NGS) 15 Genes that also includes the following genes: FBLN5 ABCA4 HTRA1 RAX2 HMCN1 ERCC6 CFB CFI CFH C3

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

By Reference Laboratory Genetics in Spain. Cone Rod Distrophy , Panel Massive Sequencing (NGS) 30 Genes that also includes the following genes: AIPL1 BEST1 ABCA4 CACNA1F CNGB3 PRPH2 RPGRIP1 RPGR PROM1 GUCY2D

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

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

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

By Reference Laboratory Genetics in Spain. Retinitis Pigmentosa (Complet Panel) , Panel Massive Sequencing (NGS) 57 Genes that also includes the following genes: ZNF513 BEST1 SPATA7 RP1 ABCA4 TTC8 USH2A PRPH2 TULP1 SAG

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

By Reference Laboratory Genetics in Spain. Stargardt Disease , Panel Massive Sequencing (NGS) 12 Genes that also includes the following genes: BEST1 ELOVL4 ABCA4 CNGB3 PRPH2 PROM1 RP1L1 RDH12 FSCN2 C1QTNF5

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Nonsyndromic Autosomal Recessive retinitis pigmentosa: gene sequencing panel Panel

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. Nonsyndromic Autosomal Recessive retinitis pigmentosa: gene sequencing panel that also includes the following genes: ZNF513 BEST1 NEUROD1 SPATA7 RP1 ABCA4 ARL6 CLRN1 TTC8 USH2A

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