RPE65 gene related symptoms and diseases
All the information presented here about the RPE65 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to RPE65 gene
Symptoms // Phenotype | % Cases |
---|---|
Blindness | Very Common - Between 80% and 100% cases |
Photophobia | Common - Between 50% and 80% cases |
Visual impairment | Common - Between 50% and 80% cases |
Nystagmus | Common - Between 50% and 80% cases |
Retinal dystrophy | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with RPE65 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Retinal degeneration
- Intellectual disability
- Keratoconus
- Nyctalopia
- Rod-cone dystrophy
- Visual loss
- Cataract
- Congenital blindness
And 84 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to RPE65 gene
Here you will find a list of rare diseases related to the RPE65. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
LEBER CONGENITAL AMAUROSIS 2; LCA2
Alternate names
LEBER CONGENITAL AMAUROSIS 2; LCA2 Is also known as amaurosis congenita of leber ii
Description
Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction. Patients usually present at birth with profound vision loss and pendular nystagmus. Electroretinogram (ERG) responses are usually nonrecordable. Other clinical findings may include high hypermetropia, photodysphoria, oculodigital sign, keratoconus, cataracts, and a variable appearance to the fundus (summary by Chung and Traboulsi, 2009).For a general description and a discussion of genetic heterogeneity of LCA, see {204000}.
Most common symptoms of LEBER CONGENITAL AMAUROSIS 2; LCA2
- Intellectual disability
- Nystagmus
- Cataract
- Visual impairment
- Optic atrophy
More info about LEBER CONGENITAL AMAUROSIS 2; LCA2
LEBER CONGENITAL AMAUROSIS
Alternate names
LEBER CONGENITAL AMAUROSIS Is also known as crb, amaurosis congenita of leber i, lca, amaurosis congenita of leber, retinal blindness, congenital
Description
Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogram (ERG)) below threshold, associated with severe visual impairment within the first year of life.
Most common symptoms of LEBER CONGENITAL AMAUROSIS
- Intellectual disability
- Seizures
- Global developmental delay
- Hearing impairment
- Growth delay
More info about LEBER CONGENITAL AMAUROSIS
RETINITIS PIGMENTOSA 20; RP20
Most common symptoms of RETINITIS PIGMENTOSA 20; RP20
- Nystagmus
- Visual impairment
- Blindness
- Rod-cone dystrophy
- Nyctalopia
More info about RETINITIS PIGMENTOSA 20; RP20
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
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 RPE65
Potential gene panels for RPE65 gene
MitoMet®Plus aCGH Analysis Panel
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 panelRPE65 Deletion/Duplication Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the RPE65 gene.
More info about this panelRPE65 Sequence Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the RPE65 gene.
More info about this panelRPE65 Sequence Analysis (Prenatal Diagnosis) Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the RPE65 gene.
More info about this panelRPE65 Comprehensive - Sequence & Deletion/Duplication Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the RPE65 gene.
More info about this panelLeber Congential Amaurosis Panel (MitomeNGS) Panel
By Baylor Miraca Genetics Laboratories Leber Congential Amaurosis Panel (MitomeNGS) that also includes the following genes: RPE65 TULP1 RPGRIP1 CABP4 NMNAT1 RD3 RDH12 SPATA7 CRB1 CRX
More info about this panelLeber Congenital Amaurosis Panel Panel
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 panelRetinitis Pigmentosa Panel Panel
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 panelCiliopathies Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Ciliopathies that also includes the following genes: RPE65 RPGR SDCCAG8 TSC1 TSC2 CEP41 TULP1 USH1C USH2A CLRN1
More info about this panelLeber congenital amaurosis 2; RPE65 Panel
By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet
This panel specifically test the RPE65 gene.
More info about this panelRPE65 Panel
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the RPE65 gene.
More info about this panelRetinitis Pigmentosa/Leber Congenital Amaurosis Panel, Sequencing and Deletion/Duplication Panel
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 panelRPE65 Gene Sequencing Panel
By GeneDx
This panel specifically test the RPE65 gene.
More info about this panelRPE65 mutation analysis Panel
By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam
This panel specifically test the RPE65 gene.
More info about this panelRPE65. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the RPE65 gene.
More info about this panelRPE65. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the RPE65 gene.
More info about this panelLeber congenital amaurosis (NGS panel for 20 genes) Panel
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 panelLeber congenital amaurosis (sequence analysis of RPE65 gene) Panel
By CGC Genetics
This panel specifically test the RPE65 gene.
More info about this panelRetinitis pigmentosa (NGS panel for 72 genes) Panel
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 panelRetinitis pigmentosa, AR and X-linked (NGS panel for 53 genes) Panel
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 panelRetinitis pigmentosa, AD and X-linked (NGS panel for 27 genes) Panel
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 panelLeber congenital amaurosis (deletion/duplication analysis on AIPL1, CRB1, CRX, LCA5 and RPE65 genes) Panel
By CGC Genetics Leber congenital amaurosis (deletion/duplication analysis on AIPL1, CRB1, CRX, LCA5 and RPE65 genes) that also includes the following genes: RPE65 CRB1 CRX LCA5 AIPL1
More info about this panelLeber congenital amaurosis (deletion/duplication analysis on AIPL1, CRB1, CRX, LCA5 and RPE65 genes) Panel
By CGC Genetics Leber congenital amaurosis (deletion/duplication analysis on AIPL1, CRB1, CRX, LCA5 and RPE65 genes) that also includes the following genes: RPE65 CRB1 CRX LCA5 AIPL1
More info about this panelAutosomal Recessive Retinitis Pigmentosa Sequencing Panel with CNV Detection Panel
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 panelAutosomal Dominant Retinitis Pigmentosa Sequencing Panel with CNV Detection Panel
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 panelLeber Congenital Amaurosis Sequencing Panel with CNV Detection Panel
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 panelRetinitis Pigmentosa (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel
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 panelCongenital Stationary Night Blindness Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Congenital Stationary Night Blindness Sequencing Panel with CNV Detection that also includes the following genes: RHO GRK1 RPE65 SAG SLC24A1 CABP4 CACNA1F CHM CACNA2D4 LRIT3
More info about this panelComprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel
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 panelRPE65-Associated Disorders via RPE65 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the RPE65 gene.
More info about this panelFocused Inherited Retinal Disorders Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Focused Inherited Retinal Disorders Sequencing Panel with CNV Detection that also includes the following genes: RHO RP1 RPE65 TULP1 USH2A RPGRIP1 CABP4 PRPF8 NMNAT1 CHM
More info about this panelLeber congenital amaurosis and related disorders Comprehensive panel Panel
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 panelLeber congenital amaurosis and related disorders Deletion / Duplication panel Panel
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 panelLeber congenital amaurosis and related disorders NGS panel Panel
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 panelRPE65-Related Retinitis Pigmentosa Panel
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the RPE65 gene.
More info about this panelRPE65-Related Leber Congenital Amaurosis Panel
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the RPE65 gene.
More info about this panelRetinitis pigmentosa type 20, autosomal recessive Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the RPE65 gene.
More info about this panelRetinitis pigmentosa, autosomal dominant and X-linked Panel Panel
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 panelRetinitis pigmentosa, autosomal recessive and X-linked Panel Panel
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 panelLeber Congenital Amaurosis Panel Panel
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 panelSingle gene testing RPE65 Panel
By CeGaT GmbH
This panel specifically test the RPE65 gene.
More info about this panelLeber Congenital Amaurosis Panel
By Asper Biogene Asper Biogene LLC Leber Congenital Amaurosis that also includes the following genes: RPE65 TULP1 RPGRIP1 NMNAT1 RD3 RDH12 SPATA7 CRB1 CRX CEP290
More info about this panelAutosomal Recessive Retinitis Pigmentosa Panel
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 panelAutosomal Dominant Retinitis Pigmentosa Panel
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 panelEye diseases comprehensive panel Panel
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 panelRPE65, sequencing Panel
By Molecular Diagnostics Laboratory University of Toledo Medical Center
This panel specifically test the RPE65 gene.
More info about this panelRetinal Dystrophy Panel Panel
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 panelLeber congenital amaurosis panel Panel
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 panelMVL Vision Panel Panel
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 panelRetinitis pigmentosa Panel
By VECMD VECMD Retinitis pigmentosa that also includes the following genes: RPE65 TULP1 CA4 PRPF31 PRPF8 CRB1 BBIP1 IMPDH1
More info about this panelqCarrier Plus Panel
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 panelInvitae Leber Congenital Amaurosis Panel Panel
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 panelLeber congenital amaurosis 2: RPE65 gene sequence analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the RPE65 gene.
More info about this panelRetinitis pigmentosa: RPE65 gene sequence analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the RPE65 gene.
More info about this panelRETINITIS PIGMENTOSA A.R. Panel
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 panelRETINITIS PIGMENTOSA A.D Panel
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 panelLeber Congenital Amaurosis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Leber Congenital Amaurosis that also includes the following genes: RPE65 TULP1 RPGRIP1 NMNAT1 RD3 RDH12 SPATA7 CRB1 CRX IQCB1
More info about this panelRETINITIS PIGMENTOSA Panel
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 panelEye Disorders: Comprehensive Sequencing Panel Panel
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 panelLeber Congenital Amaurosis: Sequencing and Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Leber Congenital Amaurosis: Sequencing and Deletion/Duplication Panel that also includes the following genes: RPE65 TULP1 RPGRIP1 CABP4 RD3 RDH12 SPATA7 CRB1 CRX IQCB1
More info about this panelRetinitis Pigmentosa: Sequencing and Deletion/Duplication Panel Panel
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 panelCiliopathies: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Ciliopathies: Sequencing Panel that also includes the following genes: RPE65 RPGR ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8 TSC1 TSC2 CEP41
More info about this panelRetina/Photoreceptor Dystrophy: Sequencing Panel Panel
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 panelCiliopathies: Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Ciliopathies: Deletion/Duplication Panel that also includes the following genes: RPE65 RPGR ATXN10 SDCCAG8 TSC1 TSC2 TULP1 UMOD USH1C USH2A
More info about this panelEye Disorders: Deletion/Duplication Panel Panel
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 panelCiliopathies NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Ciliopathies NGS Panel that also includes the following genes: RPE65 RPGR ATXN10 SDCCAG8 TULP1 UMOD USH1C USH2A CLRN1 VHL
More info about this panelEye Disorders NGS Panel Panel
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 panelRetinitis Pigmentosa NGS Panel Panel
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 panelRPE65 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the RPE65 gene.
More info about this panelRetinal Dystrophy Panel Panel
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 panelLeber Congenital Amaurosis Panel Panel
By Blueprint Genetics Leber Congenital Amaurosis Panel that also includes the following genes: RPE65 CWC27 TULP1 RPGRIP1 CABP4 NMNAT1 RD3 RDH12 SPATA7 CNGA3
More info about this panelRetinitis Pigmentosa Panel Panel
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 panelCongenital Stationary Night Blindness Panel Panel
By Blueprint Genetics Congenital Stationary Night Blindness Panel that also includes the following genes: RHO GRK1 RLBP1 RPE65 SAG CABP4 CACNA1F CACNA2D4 CYP4V2 LRIT3
More info about this panelRetinitis pigmentosa autosomal recessive Panel
By Bioarray
This panel specifically test the RPE65 gene.
More info about this panelLeber congenital amaurosis type 2 Panel
By Bioarray
This panel specifically test the RPE65 gene.
More info about this panelLEBER CONGENITAL AMAUROSIS Panel
By Laboratorio de Genetica Clinica SL LEBER CONGENITAL AMAUROSIS that also includes the following genes: RPE65 TULP1 RPGRIP1 RD3 RDH12 SPATA7 CRB1 CRX IQCB1 CEP290
More info about this panelRETINITIS PIGMENTOSA (AUTOSOMAL RECESSIVE) Panel
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 panelLEBER CONGENITAL AMAUROSIS NGS PANEL Panel
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 panelRETINITIS PIGMENTOSA NGS PANEL Panel
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 panelLeber Congenital Amaurosis Type 2, Sequencing RPE65 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the RPE65 gene.
More info about this panelRetinitis Pigmentosa, Sequencing RPE65 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the RPE65 gene.
More info about this panelAutosomal Recessive and Sporadic Retinitis Pigmentosa, Panel Massive Sequencing (NGS) 41 Genes Panel
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 panelAutosomal Dominant Retinitis Pigmentosa, Panel Massive Sequencing (NGS) 27 Genes Panel
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 panelLeber Congenital Amaurosis , Panel Massive Sequencong (NGS) 17 Genes Panel
By Reference Laboratory Genetics Leber Congenital Amaurosis , Panel Massive Sequencong (NGS) 17 Genes that also includes the following genes: RPE65 TULP1 RPGRIP1 NMNAT1 RD3 RDH12 SPATA7 CRB1 CRX IQCB1
More info about this panelRetinitis Pigmentosa (Complet Panel) , Panel Massive Sequencing (NGS) 57 Genes Panel
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 panelNonsyndromic Autosomal Dominant Retinitis Pigmentosa: gene sequencing panel Panel
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 panelNonsyndromic Autosomal Recessive retinitis pigmentosa: gene sequencing panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics Nonsyndromic Autosomal Recessive retinitis pigmentosa: gene sequencing panel that also includes the following genes: RHO RLBP1 RP1 RPE65 SAG TULP1 USH2A CLRN1 BEST1 ARL6
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