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.
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
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
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
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
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
Search interest in ABCA4
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 United States.
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 United States.
ABCA4 Deletion/Duplication Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the ABCA4 gene.
More info about this panel United States.
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 United States.
ABCA4 Sequence Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the ABCA4 gene.
More info about this panel United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
ABCA4 Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the ABCA4 gene.
More info about this panel Germany.
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 United States.
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 Netherlands.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
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 Portugal.
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 Portugal.
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 Portugal.
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 Portugal.
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 Portugal.
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 Portugal.
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 Portugal.
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 Portugal.
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 Portugal.
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 Portugal.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 Germany.
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 Germany.
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 Germany.
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 Germany.
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 Germany.
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 Germany.
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 Germany.
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 Germany.
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 Germany.
Single gene testing ABCA4 Panel
Germany.
By CeGaT GmbH
This panel specifically test the ABCA4 gene.
More info about this panel Germany.
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 Estonia.
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 Estonia.
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 Estonia.
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 Estonia.
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 Germany.
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 Germany.
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 United States.
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 United States.
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 United States.
ABCA4 single-gene sequencing Panel
United States.
By Molecular Vision Laboratory
This panel specifically test the ABCA4 gene.
More info about this panel United States.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
ABCA4 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ABCA4 gene.
More info about this panel United States.
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 Finland.
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 Finland.
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 Finland.
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 Finland.
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 Finland.
Stargardt disease Panel
Spain.
By Bioarray
This panel specifically test the ABCA4 gene.
More info about this panel Spain.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
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
More info about this panel Spain.
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
More info about this panel Spain.
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
More info about this panel Spain.
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
More info about this panel Spain.
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
More info about this panel Spain.
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
More info about this panel Spain.
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
More info about this panel Canada.
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