PRPH2 gene related symptoms and diseases
All the information presented here about the PRPH2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to PRPH2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Photophobia | Uncommon - Between 30% and 50% cases |
| Nyctalopia | Uncommon - Between 30% and 50% cases |
| Macular degeneration | Uncommon - Between 30% and 50% cases |
| Blindness | Uncommon - Between 30% and 50% cases |
| Reduced visual acuity | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with PRPH2 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Rod-cone dystrophy
- Macular dystrophy
Rarely - Less than 30% cases
- Visual loss
- Visual impairment
- Abnormality of color vision
- Metamorphopsia
- Geographic atrophy
- Chorioretinal atrophy
And 70 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to PRPH2 gene
Here you will find a list of rare diseases related to the PRPH2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
MACULAR DYSTROPHY, PATTERNED, 1; MDPT1
Alternate names
MACULAR DYSTROPHY, PATTERNED, 1; MDPT1 Is also known as patterned dystrophy of retinal pigment epithelium, macular dystrophy, butterfly-shaped pigmentary, butterfly dystrophy of retinal pigment epithelium
Description
Patterned dystrophies of the retinal pigment epithelium (RPE) refer to a heterogeneous group of macular disorders, characterized by an abnormal accumulation of lipofuscin in the RPE. The lipofuscin is most apparent in the macular area, and its distribution can show various sizes and shapes. High inter- and intrafamilial variability has been described, and retinitis pigmentosa (RP; see {268000})-like changes have sometimes been observed in association with patterned dystrophies (summary by Vaclavik et al., 2012).Three main varieties of patterned dystrophy of the RPE have been described: reticular ('fishnet-like') dystrophy (see {179840} and {267800}), macroreticular ('spider-shaped') dystrophy, and butterfly-shaped pigment dystrophy of the fovea.
Most common symptoms of MACULAR DYSTROPHY, PATTERNED, 1; MDPT1
- Blindness
- Rod-cone dystrophy
- Photophobia
- Scarring
- Nyctalopia
More info about MACULAR DYSTROPHY, PATTERNED, 1; MDPT1
RETINITIS PIGMENTOSA 7; RP7
Most common symptoms of RETINITIS PIGMENTOSA 7; RP7
- Blindness
- Rod-cone dystrophy
- Reduced visual acuity
- Pallor
- Nyctalopia
More info about RETINITIS PIGMENTOSA 7; RP7
SOURCES: 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
RETINITIS PUNCTATA ALBESCENS
FUNDUS ALBIPUNCTATUS
Description
Fundus albipunctatus is a rare, genetic retinal dystrophy disorder characterized by the presence of numerous small, round, yellowish-white retinal lesions that are distributed throughout the retina but spare the fovea. Patients present in childhood with non-progressive night blindness with prolonged cone and rod adaptation times. The macula may or may not be involved, which may result in a decrease of central visual acuity with age.
More info about FUNDUS ALBIPUNCTATUS
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
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
CENTRAL AREOLAR CHOROIDAL DYSTROPHY
Alternate names
CENTRAL AREOLAR CHOROIDAL DYSTROPHY Is also known as choroidal dystrophy, central areolar, choroidal sclerosis, cacd, central areolar choroidal sclerosis, areolar atrophy of the macula
Description
Central areolar choroidal dystrophy (CACD) is a hereditary macular disorder, usually presenting between the ages of 30-60, characterized by a large area of atrophy in the centre of the macula and the loss or absence of photoreceptors, retinal pigment epithelium and choriocapillaris in this area, resulting in a progressive decrease in visual acuity.
Most common symptoms of CENTRAL AREOLAR CHOROIDAL DYSTROPHY
- Visual loss
- Abnormal retinal morphology
- Choriocapillaris atrophy
More info about CENTRAL AREOLAR CHOROIDAL DYSTROPHY
ADULT-ONSET FOVEOMACULAR VITELLIFORM DYSTROPHY
Alternate names
ADULT-ONSET FOVEOMACULAR VITELLIFORM DYSTROPHY Is also known as adult-onset foveomacular dystrophy, gass disease, pseudo-vitelliform macular dystrophy, adult-onset vitelliform macular dystrophy, pseudo-best disease, vitelliform macular dystrophy, adult-onset, foveomacular dystrophy, adult-onset, adult-onset foveomacular dyst
Description
Adult-onset foveomacular vitelliform dystrophy (AOFVD) is a genetic macular dystrophy characterized by blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated, yellow, egg yolk-like lesion located in the foveal or parafoveal region.
Most common symptoms of ADULT-ONSET FOVEOMACULAR VITELLIFORM DYSTROPHY
- Visual impairment
- Visual loss
- Rod-cone dystrophy
- Reduced visual acuity
- Photophobia
More info about ADULT-ONSET FOVEOMACULAR VITELLIFORM DYSTROPHY
CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2; CACD2
Alternate names
CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2; CACD2 Is also known as macular dystrophy, progressive
Description
Central areolar choroidal dystrophy (CACD) is a hereditary retinal disorder that principally affects the macula, often resulting in a well-defined area of atrophy of the retinal pigment epithelium (RPE) and choriocapillaris in the center of the macula. Dysfunction of macular photoreceptors usually leads to a decrease in visual acuity, generally occurring between the ages of 30 and 60 years (summary by Boon et al., 2009).For a discussion of genetic heterogeneity of central areolar choroidal dystrophy, see CACD1 (OMIM ).
Most common symptoms of CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2; CACD2
- Blindness
- Visual loss
- Rod-cone dystrophy
- Reduced visual acuity
- Photophobia
More info about CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2; CACD2
BUTTERFLY-SHAPED PIGMENT DYSTROPHY
Alternate names
BUTTERFLY-SHAPED PIGMENT DYSTROPHY Is also known as butterfly-shaped pigmentary macular dystrophy, butterfly-shaped pattern dystrophy
Description
Butterfly-shaped pigment dystrophy is a patterned dystrophy of the retinal pigment epithelium (see this term) characterized by abnormal accumulation of lipofuscin in a butterfly-shaped distribution at the retinal pigment epithelium level. Patients manifest with a slowly progressive loss of vision that often only becomes apparent in old age.
More info about BUTTERFLY-SHAPED PIGMENT DYSTROPHY
SOURCES: ORPHANET
MULTIFOCAL PATTERN DYSTROPHY SIMULATING FUNDUS FLAVIMACULATUS
Alternate names
MULTIFOCAL PATTERN DYSTROPHY SIMULATING FUNDUS FLAVIMACULATUS Is also known as multifocal pattern dystrophy simulating stargardt disease
Description
Multifocal pattern dystrophy simulating fundus flavimaculatus is a patterned dystrophy of the retinal pigment epithelium (see this term) characterized by multiple yellowish irregular flecks scattered or interconnected around the macula, simulating what is observed in Stargardt disease (see this term), and usually asymptomatic until adulthood when patients present with a slowly progressive loss of vision that often only becomes apparent in old age.
More info about MULTIFOCAL PATTERN DYSTROPHY SIMULATING FUNDUS FLAVIMACULATUS
SOURCES: ORPHANET
Search interest in PRPH2
Potential gene panels for PRPH2 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.
PRPH2 Sequence Analysis (Prenatal Diagnosis) Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the PRPH2 gene.
More info about this panel United States.
PRPH2 Deletion/Duplication Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the PRPH2 gene.
More info about this panel United States.
PRPH2 Sequence Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the PRPH2 gene.
More info about this panel United States.
PRPH2 Comprehensive - Sequence & Deletion/Duplication Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the PRPH2 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.
Leber Congenital Amaurosis Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Leber Congenital Amaurosis Panel that also includes the following genes: RPE65 TULP1 RPGRIP1 CABP4 NMNAT1 CLUAP1 RD3 RDH12 SPATA7 CRB1
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.
Amyotrophic Lateral Sclerosis Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Amyotrophic Lateral Sclerosis that also includes the following genes: ATXN2 SOD1 TARDBP UBQLN2 VAPB VCP VEGFA FIG4 OPTN SPART
More info about this panel United States.
PRPH2 Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the PRPH2 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.
PRPH2 mutation analysis Panel
Netherlands.
By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam
This panel specifically test the PRPH2 gene.
More info about this panel Netherlands.
PRPH2. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the PRPH2 gene.
More info about this panel Spain.
Best Vitelliform Macular Dystrophy (deletion/duplication analysis of BEST1 and PRPH2 genes) Panel
Portugal.
By CGC Genetics Best Vitelliform Macular Dystrophy (deletion/duplication analysis of BEST1 and PRPH2 genes) that also includes the following genes: BEST1 PRPH2
More info about this panel Portugal.
Best Vitelliform Macular Dystrophy (sequence analysis of BEST1 and PRPH2 genes) Panel
Portugal.
By CGC Genetics Best Vitelliform Macular Dystrophy (sequence analysis of BEST1 and PRPH2 genes) that also includes the following genes: BEST1 PRPH2
More info about this panel Portugal.
Choriodal dystrophy, central areolar 2 (sequence analysis of PRPH2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the PRPH2 gene.
More info about this panel Portugal.
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.
Leber congenital amaurosis (NGS panel for 20 genes) Panel
Portugal.
By CGC Genetics Leber congenital amaurosis (NGS panel for 20 genes) that also includes the following genes: RPE65 TULP1 RPGRIP1 NMNAT1 RD3 RDH12 SPATA7 CRB1 CRX IQCB1
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.
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, AD and X-linked (NGS panel for 27 genes) Panel
Portugal.
By CGC Genetics Retinitis pigmentosa, AD and X-linked (NGS panel for 27 genes) that also includes the following genes: RHO ROM1 RP1 RP2 RP9 RPE65 RPGR SEMA4A BEST1 CA4
More info about this panel Portugal.
Retinitis pigmentosa (delection/duplication analysis on BEST1 and PRPH2 genes) Panel
Portugal.
By CGC Genetics Retinitis pigmentosa (delection/duplication analysis on BEST1 and PRPH2 genes) that also includes the following genes: BEST1 PRPH2
More info about this panel Portugal.
Macular dystrophy (sequence analysis of PRPH2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the PRPH2 gene.
More info about this panel Portugal.
Retinitis punctata albescens (sequence analysis of PRPH2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the PRPH2 gene.
More info about this panel Portugal.
Retinitis punctata albescens (sequence analysis of PRPH2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the PRPH2 gene.
More info about this panel Portugal.
Macular dystrophy (sequence analysis of PRPH2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the PRPH2 gene.
More info about this panel Portugal.
Autosomal Dominant Retinitis Pigmentosa Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Autosomal Dominant Retinitis Pigmentosa Sequencing Panel with CNV Detection that also includes the following genes: RHO ROM1 RP1 RPE65 SEMA4A BEST1 CA4 C1QTNF5 PRPF31 KLHL7
More info about this panel United States.
Leber Congenital Amaurosis Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Leber Congenital Amaurosis Sequencing Panel with CNV Detection that also includes the following genes: RPE65 TULP1 RPGRIP1 CABP4 NMNAT1 RD3 RDH12 SPATA7 INPP5E CNGA3
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.
Retinitis Pigmentosa via PRPH2 (RDS) Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the PRPH2 gene.
More info about this panel United States.
Leber congenital amaurosis and related disorders Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Leber congenital amaurosis and related disorders Comprehensive panel that also includes the following genes: ROM1 RPE65 TULP1 RPGRIP1 CABP4 NMNAT1 CLUAP1 RD3 RDH12 SPATA7
More info about this panel United States.
Leber congenital amaurosis and related disorders Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Leber congenital amaurosis and related disorders Deletion / Duplication panel that also includes the following genes: ROM1 RPE65 TULP1 RPGRIP1 CABP4 NMNAT1 CLUAP1 RD3 RDH12 SPATA7
More info about this panel United States.
Leber congenital amaurosis and related disorders NGS panel Panel
United States.
By Connective Tissue Gene Tests Leber congenital amaurosis and related disorders NGS panel that also includes the following genes: ROM1 RPE65 TULP1 RPGRIP1 CABP4 NMNAT1 CLUAP1 RD3 RDH12 SPATA7
More info about this panel United States.
PRPH2-Related Retinitis Pigmentosa Panel
Germany.
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the PRPH2 gene.
More info about this panel Germany.
Fundus albipunctatus Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the PRPH2 gene.
More info about this panel Germany.
Macular dystrophy, vitelliform Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the PRPH2 gene.
More info about this panel Germany.
Patterned dystrophy of retinal pigment epithelium Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the PRPH2 gene.
More info about this panel Germany.
AllNeuro panel Panel
Germany.
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panel Germany.
ALS panel Panel
Germany.
By Centogene AG - the Rare Disease Company ALS panel that also includes the following genes: ATXN2 SOD1 TARDBP UBQLN2 VAPB VCP VEGFA FIG4 OPTN SPART
More info about this panel Germany.
Choroidal dystrophy, central areolar type 2 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the PRPH2 gene.
More info about this panel Germany.
Retinitis pigmentosa type 7, autosomal dominant Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the PRPH2 gene.
More info about this panel Germany.
Macular dystrophy Panel
United Kingdom.
By Genomic Diagnostics Laboratory Central Manchester NHS Foundation Trust
This panel specifically test the PRPH2 gene.
More info about this panel United Kingdom.
Retinitis pigmentosa, autosomal dominant and X-linked Panel Panel
Germany.
By CeGaT GmbH Retinitis pigmentosa, autosomal dominant and X-linked Panel that also includes the following genes: RHO ROM1 RP1 RP2 RP9 RPE65 RPGR SEMA4A SPP2 BEST1
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.
Leber Congenital Amaurosis Panel Panel
Germany.
By CeGaT GmbH Leber Congenital Amaurosis Panel that also includes the following genes: RPE65 TULP1 RPGRIP1 NMNAT1 RD3 RDH12 SPATA7 CRB1 CRX IQCB1
More info about this panel Germany.
Single gene testing PRPH2 Panel
Germany.
By CeGaT GmbH
This panel specifically test the PRPH2 gene.
More info about this panel Germany.
Vitelliform Macular Dystrophy Panel
Estonia.
By Asper Biogene Asper Biogene LLC Vitelliform Macular Dystrophy that also includes the following genes: BEST1 IMPG1 PRPH2
More info about this panel Estonia.
Autosomal Dominant Retinitis Pigmentosa Panel
Estonia.
By Asper Biogene Asper Biogene LLC Autosomal Dominant Retinitis Pigmentosa that also includes the following genes: RHO ROM1 RP1 RP9 RPE65 SEMA4A BEST1 CA4 PRPF31 KLHL7
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.
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.
Leber congenital amaurosis panel Panel
United States.
By Molecular Vision Laboratory Leber congenital amaurosis panel that also includes the following genes: RPE65 TULP1 RPGRIP1 CABP4 NMNAT1 RD3 RDH12 SPATA7 CRB1 CRX
More info about this panel United States.
MVL Vision Panel Panel
United States.
By Molecular Vision Laboratory MVL Vision Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panel United States.
Retinitis pigmentosa 7 Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the PRPH2 gene.
More info about this panel Austria.
PRPH2 Panel
Austria.
By Division Human Genetics Medical University Innsbruck
This panel specifically test the PRPH2 gene.
More info about this panel Austria.
Retinitis pigmentosa 7 Panel
Slovakia.
By MedGene
This panel specifically test the PRPH2 gene.
More info about this panel Slovakia.
Invitae Leber Congenital Amaurosis Panel Panel
United States.
By Invitae Invitae Leber Congenital Amaurosis Panel that also includes the following genes: RPE65 TULP1 RPGRIP1 NMNAT1 RD3 RDH12 SPATA7 CRB1 CRX IQCB1
More info about this panel United States.
Fundus albipunctatus: PRPH2 (RDS) gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the PRPH2 gene.
More info about this panel Spain.
Macular dystrophy:PRPH2 (RDS) gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the PRPH2 gene.
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.
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.
PRPH2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PRPH2 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.
Vitelliform macular dystrophy, adult-onset Panel
Spain.
By Bioarray
This panel specifically test the PRPH2 gene.
More info about this panel Spain.
FOVEOMACULAR VITELLIFORM DYSTROPHY Panel
Spain.
By Laboratorio de Genetica Clinica SL FOVEOMACULAR VITELLIFORM DYSTROPHY that also includes the following genes: BEST1 PRPH2
More info about this panel Spain.
RETINITIS PIGMENTOSA (AUTOSOMAL DOMINANT) Panel
Spain.
By Laboratorio de Genetica Clinica SL RETINITIS PIGMENTOSA (AUTOSOMAL DOMINANT) that also includes the following genes: RHO RP1 PRPF31 PRPF3 RDH12 IMPDH1 PRPH2
More info about this panel Spain.
RETINITIS PUNCTATA ALBESCENS Panel
Spain.
By Laboratorio de Genetica Clinica SL RETINITIS PUNCTATA ALBESCENS that also includes the following genes: RHO RLBP1 RDH5 PRPH2
More info about this panel Spain.
LEBER CONGENITAL AMAUROSIS NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL LEBER CONGENITAL AMAUROSIS NGS PANEL that also includes the following genes: RPE65 TULP1 RPGRIP1 CABP4 NMNAT1 PMPCA RD3 RDH12 SPATA7 CRB1
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.
Patterned Macular Dystrophy Type 1 , Sequencing PRPH2 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the PRPH2 gene.
More info about this panel Spain.
Fundus Albipunctatus, Sequencing PRPH2 (RDS) Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the PRPH2 gene.
More info about this panel Spain.
Vitelliform Macular Dystrophy, Deletions-Duplications (MLPA) BEST1,PRPH2 Genes Panel
Spain.
By Reference Laboratory Genetics Vitelliform Macular Dystrophy, Deletions-Duplications (MLPA) BEST1,PRPH2 Genes that also includes the following genes: BEST1 PRPH2
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.
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.
Fundus Albipunctatus, Panel Massive Sequencing (NGS) PRPH2, RDH5, RHO, RLBP1 Genes Panel
Spain.
By Reference Laboratory Genetics Fundus Albipunctatus, Panel Massive Sequencing (NGS) PRPH2, RDH5, RHO, RLBP1 Genes that also includes the following genes: RHO RLBP1 RDH5 PRPH2
More info about this panel Spain.
Nonsyndromic Autosomal Dominant Retinitis Pigmentosa: gene sequencing panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Nonsyndromic Autosomal Dominant Retinitis Pigmentosa: gene sequencing panel that also includes the following genes: RHO ROM1 RP1 RP9 RPE65 SEMA4A SPP2 BEST1 CA4 PRPF31
More info about this panel Canada.
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