Macular Dystrophy, Vitelliform, 3; Vmd3

Description

Adult-onset foveomacular vitelliform dystrophy, also known as adult vitelliform macular dystrophy, adult-type foveomacular dystrophy, adult vitelliform macular degeneration, pseudovitelliform macular degeneration, and adult-onset foveomacular pigment epithelial dystrophy, is characterized by a solitary, oval, slightly elevated yellowish subretinal lesion of the fovea that is similar in appearance to the vitelliform or egg-yolk stage of Best disease (OMIM ). Initially the yellow lesion may be present in only one eye. The size is generally one-third to one disc diameter, and small yellow flecks are seen in the paracentral lesion. Patients usually become symptomatic in the fourth or fifth decade of life with a protracted decrease of visual acuity and mild metamorphopsia. Electrooculographic testing reveals a normal or only slightly reduced Arden ratio, which is intensely abnormal in Best disease. The prognosis is optimistic, as most patients retain reading vision throughout life (Felbor et al., 1997; Yamaguchi et al., 2001).For a discussion of genetic heterogeneity of vitelliform macular dystrophy, see VMD1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Macular Dystrophy, Vitelliform, 3; Vmd3

  • Visual impairment
  • Rod-cone dystrophy
  • Reduced visual acuity
  • Visual loss
  • Photophobia
  • Abnormality of the eye
  • Progressive visual loss
  • Macular degeneration
  • Abnormality of vision
  • Retinal atrophy
And another 17 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Macular Dystrophy, Vitelliform, 3; Vmd3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Macular Degeneration Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

BEST1, FBLN5, ELOVL4, ABCA4, OTX2, CNGB3, PRPH2, RPGR, PROM1, GUCA1B, RP1L1, IMPG2, FSCN2, C1QTNF5, TIMP3, EFEMP1, MFSD8, RAX2, CTNNA1, DRAM2 , (...)

View the complete list with 4 more genes
Specificity
17 %
Genes
100 %
IMPG1.

By Institute for Human Genetics University Clinic Freiburg in Germany.

IMPG1
Specificity
100 %
Genes
25 %
Stargardt disease and macular distrophy (NGS panel for 14 genes).

By CGC Genetics in Portugal.

BEST1, ELOVL4, ABCA4, CNGB3, PRPH2, RPGR, PROM1, RP1L1, RDH12, FSCN2, C1QTNF5, TIMP3, IMPG1, CDH3
Specificity
22 %
Genes
75 %
Macular dystrophy vitelliform 4 (sequence analysis of IMPG1 gene).

By CGC Genetics in Portugal.

IMPG1
Specificity
100 %
Genes
25 %
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, C12orf65, INVS, NEUROD1, SPATA7, MMACHC, FBLN5, LRP5, COL2A1, PRKCG, CHM, PDZD7, RP1, INPP5E, AMACR , (...)

View the complete list with 285 more genes
Specificity
2 %
Genes
100 %
Stargardt Disease and Macular Dystrophies Panel.

By CeGaT GmbH in Germany.

BEST1, ELOVL4, ABCA4, CNGB3, PRPH2, RPGR, PROM1, CRX, CRB1, RP1L1, IMPG2, RDH12, FSCN2, C1QTNF5, CLN3, TIMP3, MFSD8, TTLL5, CTNNA1, DRAM2 , (...)

View the complete list with 2 more genes
Specificity
19 %
Genes
100 %
Stargardt Panel.

By Molecular Vision Laboratory in United States.

BEST1, ELOVL4, ABCA4, PRPH2, PROM1, RP1L1, IMPG2, TIMP3, EFEMP1, TTLL5, DRAM2, IMPG1, CDH3
Specificity
31 %
Genes
100 %
Retinal Dystrophy Panel.

By Molecular Vision Laboratory in United States.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, C12orf65, INVS, OPN1MW, OPN1LW, NEUROD1, SPATA7, MMACHC, LRP5, CHM, PDZD7, RP1, INPP5E, AMACR, OPA1 , (...)

View the complete list with 267 more genes
Specificity
2 %
Genes
100 %
MVL Vision Panel.

By Molecular Vision Laboratory in United States.

ZNF513, USH1G, USH1C, BEST1, C12orf65, INVS, OPN1MW, OPN1LW, NEUROD1, SPATA7, MMACHC, LRP5, CHM, PDZD7, RP1, INPP5E, OPA1, WFS1, CC2D2A, ELOVL4 , (...)

View the complete list with 248 more genes
Specificity
2 %
Genes
100 %
IMPG1.

By Fulgent Genetics Fulgent Genetics in United States.

IMPG1
Specificity
100 %
Genes
25 %
Retinal Dystrophy Panel.

By Blueprint Genetics in Finland.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, SPATA7, MMACHC, LRP5, COL2A1, PRKCG, CHM, PDZD7, RP1, INPP5E, OPA1, WFS1, CC2D2A, ELOVL4 , (...)

View the complete list with 240 more genes
Specificity
2 %
Genes
100 %
Macular Dystrophy Panel.

By Blueprint Genetics in Finland.

BEST1, ELOVL4, ABCA4, CNGB3, PRPH2, RPGR, RLBP1, PROM1, CRX, CRB1, RS1, RP1L1, IMPG2, RDH12, CERKL, C1QTNF5, TIMP3, RDH5, EFEMP1, MFSD8 , (...)

View the complete list with 6 more genes
Specificity
16 %
Genes
100 %
Macular dystrophy, vitelliform.

By Labor Dr. Wisplinghoff in Germany.

BEST1, IMPG2, IMPG1
Specificity
100 %
Genes
75 %
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories in United States.

BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513 , (...)

View the complete list with 617 more genes
Specificity
1 %
Genes
75 %
IMPG2 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

IMPG2
Specificity
100 %
Genes
25 %
IMPG2 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

IMPG2
Specificity
100 %
Genes
25 %
IMPG2 Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

IMPG2
Specificity
100 %
Genes
25 %
IMPG2 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

IMPG2
Specificity
100 %
Genes
25 %
Retinitis Pigmentosa Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

ABHD12, ZNF513, AIPL1, BEST1, NEUROD1, SPATA7, PRKCG, CHM, RP1, ABCA4, MFRP, ARL6, CEP290, CLRN1, TTC8, USH2A, PRPH2, TULP1, SAG, RPGRIP1 , (...)

View the complete list with 72 more genes
Specificity
4 %
Genes
75 %
IMPG2.

By Institute for Human Genetics University Clinic Freiburg in Germany.

IMPG2
Specificity
100 %
Genes
25 %
Retinitis pigmentosa 56 (sequence analysis of IMPG2 gene).

By CGC Genetics in Portugal.

IMPG2
Specificity
100 %
Genes
25 %
Retinitis pigmentosa (NGS panel for 72 genes).

By CGC Genetics in Portugal.

ZNF513, BEST1, SPATA7, RP1, ABCA4, ARL6, CLRN1, TTC8, USH2A, PRPH2, TULP1, SAG, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, CRX , (...)

View the complete list with 52 more genes
Specificity
5 %
Genes
75 %
Retinitis pigmentosa, AR and X-linked (NGS panel for 53 genes).

By CGC Genetics in Portugal.

ZNF513, BEST1, SPATA7, RP1, ABCA4, TTC8, USH2A, TULP1, SAG, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, CRB1, IDH3B, C8orf37, MERTK, DHDDS , (...)

View the complete list with 33 more genes
Specificity
4 %
Genes
50 %
Autosomal Recessive Retinitis Pigmentosa Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ABHD12, ZNF513, AIPL1, BEST1, NEUROD1, SPATA7, RP1, INPP5E, ABCA4, MFRP, ARL6, CEP290, CLRN1, TTC8, USH2A, TULP1, SAG, RPGRIP1, RPE65, RLBP1 , (...)

View the complete list with 39 more genes
Specificity
4 %
Genes
50 %
Retinitis Pigmentosa (includes RPGR ORF15) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ABHD12, ZNF513, AIPL1, BEST1, NEUROD1, SPATA7, PRKCG, CHM, RP1, INPP5E, ABCA4, CACNA1F, MFRP, ARL6, CEP290, CLRN1, TTC8, USH2A, PRPH2, TULP1 , (...)

View the complete list with 60 more genes
Specificity
4 %
Genes
75 %
Stargardt Disease (STGD) and Macular Dystrophies Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

BEST1, ELOVL4, ABCA4, CNGB3, PRPH2, RPGRIP1, RPGR, RLBP1, PROM1, CRB1, GUCA1B, RS1, RP1L1, IMPG2, RDH12, CERKL, FSCN2, C1QTNF5, TIMP3, EFEMP1 , (...)

View the complete list with 2 more genes
Specificity
14 %
Genes
75 %
Autosomal Recessive Retinitis Pigmentosa 69 (RP69) via IMPG2 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

IMPG2
Specificity
100 %
Genes
25 %
Retinitis pigmentosa type 56, autosomal recessive.

By Centogene AG - the Rare Disease Company in Germany.

IMPG2
Specificity
100 %
Genes
25 %
Retinitis pigmentosa, autosomal recessive and X-linked Panel.

By CeGaT GmbH in Germany.

ZNF513, BEST1, SPATA7, RP1, ABCA4, CLRN1, TTC8, USH2A, TULP1, SAG, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, CRB1, IDH3B, C8orf37, MERTK , (...)

View the complete list with 42 more genes
Specificity
4 %
Genes
50 %
Autosomal Recessive Retinitis Pigmentosa.

By Asper Biogene Asper Biogene LLC in Estonia.

ZNF513, AIPL1, BEST1, RP1, ABCA4, CNGB3, ARL6, CLRN1, TTC8, USH2A, TULP1, SAG, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, CRX , (...)

View the complete list with 36 more genes
Specificity
4 %
Genes
50 %
Eye diseases comprehensive panel.

By Asper Biogene Asper Biogene LLC in Estonia.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, OPN1MW, SPATA7, TYRP1, LRP5, COL2A1, VSX1, SLC45A2, PAX6, ZEB1, CHM, TGFBI, PITX3, TYR , (...)

View the complete list with 255 more genes
Specificity
2 %
Genes
75 %
RETINITIS PIGMENTOSA A.R..

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

ZNF513, BEST1, SPATA7, RP1, ABCA4, TTC8, USH2A, TULP1, SAG, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, CRB1, IDH3B, C8orf37, MERTK, DHDDS , (...)

View the complete list with 21 more genes
Specificity
5 %
Genes
50 %
RETINITIS PIGMENTOSA.

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

ZNF513, BEST1, SPATA7, RP1, ABCA4, TTC8, USH2A, PRPH2, TULP1, SAG, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, CRX, CRB1, IDH3B , (...)

View the complete list with 37 more genes
Specificity
6 %
Genes
75 %
Eye Disorders: Comprehensive Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, SPATA7, TYRP1, LRP5, COL2A1, OCA2, SLC45A2, WT1, PAX6, CHM, PITX3, TYR, RP1, GPR143 , (...)

View the complete list with 190 more genes
Specificity
2 %
Genes
75 %
Retinitis Pigmentosa: Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ZNF513, AIPL1, BEST1, SPATA7, RP1, ABCA4, CLRN1, TTC8, USH2A, PRPH2, TULP1, SAG, RPGRIP1, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1 , (...)

View the complete list with 44 more genes
Specificity
5 %
Genes
75 %
Retina/Photoreceptor Dystrophy: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ZNF513, AIPL1, BEST1, SPATA7, LRP5, COL2A1, PAX6, CHM, RP1, OPA1, ELOVL4, ABCA4, CACNA1F, NDP, OTX2, CNGB3, KCNJ13, CEP290, CLRN1, TTC8 , (...)

View the complete list with 100 more genes
Specificity
3 %
Genes
75 %
Eye Disorders: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, SPATA7, TYRP1, LRP5, COL2A1, OCA2, SLC45A2, WT1, PAX6, CHM, PITX3, TYR, PDZD7, RP1 , (...)

View the complete list with 187 more genes
Specificity
2 %
Genes
75 %
Eye Disorders NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

ZNF513, AIPL1, USH1C, BEST1, INVS, SPATA7, COL2A1, PAX6, CHM, RB1, RP1, OPTN, OPA1, WFS1, CC2D2A, FOXC1, ELOVL4, PITX2, ABCA4, JAG1 , (...)

View the complete list with 118 more genes
Specificity
3 %
Genes
75 %
Retinitis Pigmentosa NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

ZNF513, AIPL1, USH1C, BEST1, INVS, SPATA7, RP1, WFS1, ABCA4, CACNA1F, ARL6, NPHP3, NPHP1, MKKS, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4 , (...)

View the complete list with 68 more genes
Specificity
4 %
Genes
75 %
IMPG2.

By Fulgent Genetics Fulgent Genetics in United States.

IMPG2
Specificity
100 %
Genes
25 %
Retinitis Pigmentosa Panel.

By Blueprint Genetics in Finland.

ABHD12, ZNF513, AIPL1, USH1C, BEST1, SPATA7, PRKCG, CHM, RP1, INPP5E, ABCA4, MFRP, ARL6, CEP290, CLRN1, TTC8, USH2A, PRPH2, TULP1, SAG , (...)

View the complete list with 90 more genes
Specificity
3 %
Genes
75 %
Autosomal Recessive and Sporadic Retinitis Pigmentosa, Panel Massive Sequencing (NGS) 41 Genes.

By Reference Laboratory Genetics in Spain.

ZNF513, BEST1, SPATA7, RP1, ABCA4, TTC8, USH2A, TULP1, SAG, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, CRB1, IDH3B, C8orf37, MERTK, DHDDS , (...)

View the complete list with 21 more genes
Specificity
5 %
Genes
50 %
Retinitis Pigmentosa (Complet Panel) , Panel Massive Sequencing (NGS) 57 Genes.

By Reference Laboratory Genetics in Spain.

ZNF513, BEST1, SPATA7, RP1, ABCA4, TTC8, USH2A, PRPH2, TULP1, SAG, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, CRX, CRB1, IDH3B , (...)

View the complete list with 37 more genes
Specificity
6 %
Genes
75 %
Nonsyndromic Autosomal Recessive retinitis pigmentosa: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

ZNF513, BEST1, NEUROD1, SPATA7, RP1, ABCA4, ARL6, CLRN1, TTC8, USH2A, TULP1, SAG, RPE65, RLBP1, RHO, PROM1, PDE6B, CRB1, IDH3B, C8orf37 , (...)

View the complete list with 35 more genes
Specificity
4 %
Genes
50 %
PRPH2 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

PRPH2
Specificity
100 %
Genes
25 %
PRPH2 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

PRPH2
Specificity
100 %
Genes
25 %
PRPH2 Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

PRPH2
Specificity
100 %
Genes
25 %
PRPH2 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

PRPH2
Specificity
100 %
Genes
25 %
Cone-Rod Dystrophy Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

AIPL1, BEST1, ABCA4, CACNA1F, CNGB3, PRPH2, TULP1, RPGRIP1, RPGR, PROM1, GUCY2D, CRX, CRB1, C8orf37, GNAT2, CDHR1, PDE6C, ADAM9, CACNA2D4, KCNV2 , (...)

View the complete list with 17 more genes
Specificity
6 %
Genes
50 %
Leber Congenital Amaurosis Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

AIPL1, SPATA7, OTX2, KCNJ13, CEP290, PRPH2, TULP1, RPGRIP1, RPE65, IMPDH1, GUCY2D, CRX, CRB1, LRAT, RDH12, RD3, CABP4, IQCB1, LCA5, NMNAT1 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
25 %
Amyotrophic Lateral Sclerosis.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

OPTN, PRPH2, VCP, SOD1, NEFH, FIG4, C9orf72, ATXN2, SPART, ALS2, SIGMAR1, FUS, SETX, DCTN1, CHMP2B, TARDBP, ANG, VAPB, PFN1, UBQLN2 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
25 %
PRPH2.

By Institute for Human Genetics University Clinic Freiburg in Germany.

PRPH2
Specificity
100 %
Genes
25 %
Retinitis Pigmentosa/Leber Congenital Amaurosis Panel, Sequencing and Deletion/Duplication, 53 Genes.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

AIPL1, BEST1, SPATA7, RP1, ABCA4, CEP290, TTC8, USH2A, PRPH2, TULP1, SAG, RPGRIP1, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, GUCY2D , (...)

View the complete list with 33 more genes
Specificity
4 %
Genes
50 %
PRPH2 mutation analysis.

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

PRPH2
Specificity
100 %
Genes
25 %
PRPH2. Complete sequencing.

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

PRPH2
Specificity
100 %
Genes
25 %
Best Vitelliform Macular Dystrophy (deletion/duplication analysis of BEST1 and PRPH2 genes).

By CGC Genetics in Portugal.

BEST1, PRPH2
Specificity
100 %
Genes
50 %
Best Vitelliform Macular Dystrophy (sequence analysis of BEST1 and PRPH2 genes).

By CGC Genetics in Portugal.

BEST1, PRPH2
Specificity
100 %
Genes
50 %
Choriodal dystrophy, central areolar 2 (sequence analysis of PRPH2 gene).

By CGC Genetics in Portugal.

PRPH2
Specificity
100 %
Genes
25 %
Cone-rod dystrophy (NGS panel of 36 genes).

By CGC Genetics in Portugal.

AIPL1, BEST1, ABCA4, CACNA1F, CNGB3, PRPH2, RPGRIP1, RPGR, PROM1, GUCY2D, CRX, C8orf37, GNAT2, CDHR1, PDE6C, ADAM9, CACNA2D4, CABP4, KCNV2, SEMA4A , (...)

View the complete list with 16 more genes
Specificity
6 %
Genes
50 %
Leber congenital amaurosis (NGS panel for 20 genes).

By CGC Genetics in Portugal.

AIPL1, SPATA7, OTX2, KCNJ13, CEP290, PRPH2, TULP1, RPGRIP1, RPE65, IMPDH1, GUCY2D, CRX, CRB1, LRAT, RDH12, RD3, IQCB1, LCA5, NMNAT1, GDF6
Specificity
5 %
Genes
25 %
Retinitis pigmentosa, AD and X-linked (NGS panel for 27 genes).

By CGC Genetics in Portugal.

BEST1, RP1, PRPH2, RPGR, RPE65, RHO, IMPDH1, CRX, PRPF6, GUCA1B, RGR, NRL, KLHL7, RDH12, SNRNP200, SEMA4A, TOPORS, FSCN2, CA4, PRPF31 , (...)

View the complete list with 7 more genes
Specificity
8 %
Genes
50 %
Retinitis pigmentosa (delection/duplication analysis on BEST1 and PRPH2 genes).

By CGC Genetics in Portugal.

BEST1, PRPH2
Specificity
100 %
Genes
50 %
Macular dystrophy (sequence analysis of PRPH2 gene).

By CGC Genetics in Portugal.

PRPH2
Specificity
100 %
Genes
25 %
Retinitis punctata albescens (sequence analysis of PRPH2 gene).

By CGC Genetics in Portugal.

PRPH2
Specificity
100 %
Genes
25 %
Retinitis punctata albescens (sequence analysis of PRPH2 gene).

By CGC Genetics in Portugal.

PRPH2
Specificity
100 %
Genes
25 %
Macular dystrophy (sequence analysis of PRPH2 gene).

By CGC Genetics in Portugal.

PRPH2
Specificity
100 %
Genes
25 %
Autosomal Dominant Retinitis Pigmentosa Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

BEST1, PRKCG, RP1, PRPH2, RPE65, RHO, PDE6B, IMPDH1, CRX, CRB1, PRPF6, GUCA1B, NRL, KLHL7, SNRNP200, SEMA4A, TOPORS, FSCN2, C1QTNF5, LCA5 , (...)

View the complete list with 9 more genes
Specificity
7 %
Genes
50 %
Leber Congenital Amaurosis Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

AIPL1, SPATA7, INPP5E, OTX2, CNGB3, KCNJ13, CEP290, PRPH2, TULP1, RPGRIP1, RPE65, IMPDH1, GUCY2D, CRX, CRB1, MERTK, GNAT2, LRAT, RDH12, RD3 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
25 %
Flecked Retina Disorder Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CHM, ELOVL4, ABCA4, PRPH2, RLBP1, RHO, PROM1, RS1, LRAT, RDH5, EFEMP1, VPS13B, PLA2G5
Specificity
8 %
Genes
25 %
Cone-Rod Dystrophy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

AIPL1, BEST1, ABCA4, CACNA1F, CNGB3, PRPH2, RPGRIP1, RPGR, PROM1, GUCY2D, CRX, C8orf37, CDHR1, PDE6C, ADAM9, CACNA2D4, CABP4, KCNV2, SEMA4A, RGS9 , (...)

View the complete list with 15 more genes
Specificity
6 %
Genes
50 %
Retinitis Pigmentosa via the PRPH2 (RDS) Gene.

By PreventionGenetics PreventionGenetics in United States.

PRPH2
Specificity
100 %
Genes
25 %
Leber congenital amaurosis and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

AIPL1, SPATA7, INPP5E, OTX2, KCNJ13, CEP290, PRPH2, TULP1, RPGRIP1, RPE65, IMPDH1, GUCY2D, CRX, CRB1, MERTK, LRAT, RDH12, RD3, CABP4, SNRNP200 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
25 %
Leber congenital amaurosis and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

AIPL1, SPATA7, INPP5E, OTX2, KCNJ13, CEP290, PRPH2, TULP1, RPGRIP1, RPE65, IMPDH1, GUCY2D, CRX, CRB1, MERTK, LRAT, RDH12, RD3, CABP4, SNRNP200 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
25 %
Leber congenital amaurosis and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

AIPL1, SPATA7, INPP5E, OTX2, KCNJ13, CEP290, PRPH2, TULP1, RPGRIP1, RPE65, IMPDH1, GUCY2D, CRX, CRB1, MERTK, LRAT, RDH12, RD3, CABP4, SNRNP200 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
25 %
PRPH2-Related Retinitis Pigmentosa.

By Bioscientia GmbH Center for Human Genetics in Germany.

PRPH2
Specificity
100 %
Genes
25 %
Fundus albipunctatus.

By Centogene AG - the Rare Disease Company in Germany.

PRPH2
Specificity
100 %
Genes
25 %
Macular dystrophy, vitelliform.

By Centogene AG - the Rare Disease Company in Germany.

PRPH2
Specificity
100 %
Genes
25 %
Patterned dystrophy of retinal pigment epithelium.

By Centogene AG - the Rare Disease Company in Germany.

PRPH2
Specificity
100 %
Genes
25 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
50 %
ALS panel.

By Centogene AG - the Rare Disease Company in Germany.

OPTN, PRPH2, VCP, SOD1, NEFH, FIG4, C9orf72, ATXN2, SPART, ALS2, SIGMAR1, FUS, SETX, DCTN1, CHMP2B, TARDBP, ANG, VAPB, PFN1, UBQLN2 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
25 %
Choroidal dystrophy, central areolar type 2.

By Centogene AG - the Rare Disease Company in Germany.

PRPH2
Specificity
100 %
Genes
25 %
Retinitis pigmentosa type 7, autosomal dominant.

By Centogene AG - the Rare Disease Company in Germany.

PRPH2
Specificity
100 %
Genes
25 %
Macular dystrophy.

By Genomic Diagnostics Laboratory Central Manchester NHS Foundation Trust in United Kingdom.

PRPH2
Specificity
100 %
Genes
25 %
Retinitis pigmentosa, autosomal dominant and X-linked Panel.

By CeGaT GmbH in Germany.

BEST1, RP1, PRPH2, RPGR, RPE65, RHO, IMPDH1, CRX, PRPF6, GUCA1B, RGR, NRL, KLHL7, RDH12, SNRNP200, SEMA4A, TOPORS, FSCN2, CA4, PRPF31 , (...)

View the complete list with 10 more genes
Specificity
7 %
Genes
50 %
Cone Rod Dystrophies Panel.

By CeGaT GmbH in Germany.

AIPL1, ABCA4, CACNA1F, CNGB3, CEP290, PRPH2, RPGRIP1, RPGR, PROM1, GUCY2D, CRX, CRB1, C8orf37, GNAT2, CDHR1, PCARE, PDE6C, ADAM9, CACNA2D4, CABP4 , (...)

View the complete list with 20 more genes
Specificity
3 %
Genes
25 %
Leber Congenital Amaurosis Panel.

By CeGaT GmbH in Germany.

AIPL1, SPATA7, OTX2, KCNJ13, CEP290, PRPH2, TULP1, RPGRIP1, RPE65, GUCY2D, CRX, CRB1, MERTK, LRAT, RDH12, RD3, IQCB1, LCA5, RDH5, NMNAT1
Specificity
5 %
Genes
25 %
Single gene testing PRPH2.

By CeGaT GmbH in Germany.

PRPH2
Specificity
100 %
Genes
25 %
Vitelliform Macular Dystrophy.

By Asper Biogene Asper Biogene LLC in Estonia.

BEST1, PRPH2
Specificity
100 %
Genes
50 %
Autosomal Dominant Retinitis Pigmentosa.

By Asper Biogene Asper Biogene LLC in Estonia.

AIPL1, BEST1, PRKCG, RP1, PRPH2, RPE65, RHO, IMPDH1, CRX, PRPF6, GUCA1B, RGR, NRL, KLHL7, RDH12, SNRNP200, SEMA4A, TOPORS, FSCN2, CA4 , (...)

View the complete list with 6 more genes
Specificity
8 %
Genes
50 %
Cone-Rod Dystrophy.

By Asper Biogene Asper Biogene LLC in Estonia.

AIPL1, BEST1, ABCA4, CACNA1F, CNGB3, PRPH2, RPGRIP1, RPGR, PROM1, GUCY2D, CRX, C8orf37, GNAT2, CDHR1, PDE6C, ADAM9, CACNA2D4, CABP4, KCNV2, SEMA4A , (...)

View the complete list with 10 more genes
Specificity
7 %
Genes
50 %
Cone Rod Dystrophy panel.

By Molecular Vision Laboratory in United States.

AIPL1, ABCA4, CACNA1F, CNGB3, PRPH2, RPGRIP1, RPGR, PROM1, GUCY2D, CRX, C8orf37, GNAT2, CDHR1, PDE6C, ADAM9, CACNA2D4, KCNV2, SEMA4A, CERKL, RIMS1 , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
25 %
Leber congenital amaurosis panel.

By Molecular Vision Laboratory in United States.

AIPL1, SPATA7, OTX2, KCNJ13, CEP290, PRPH2, TULP1, RPGRIP1, RPE65, IMPDH1, GUCY2D, CRX, CRB1, LRAT, RDH12, RD3, CABP4, IQCB1, LCA5, NMNAT1 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
25 %
Retinitis pigmentosa 7.

By Praxis fuer Humangenetik Wien in Austria.

PRPH2
Specificity
100 %
Genes
25 %
PRPH2.

By Division Human Genetics Medical University Innsbruck in Austria.

PRPH2
Specificity
100 %
Genes
25 %
Retinitis pigmentosa 7.

By MedGene in Slovakia.

PRPH2
Specificity
100 %
Genes
25 %
Invitae Leber Congenital Amaurosis Panel.

By Invitae in United States.

AIPL1, SPATA7, OTX2, KCNJ13, CEP290, PRPH2, TULP1, RPGRIP1, RPE65, GUCY2D, CRX, CRB1, LRAT, RDH12, RD3, IQCB1, LCA5, NMNAT1, GDF6
Specificity
6 %
Genes
25 %
Fundus albipunctatus: PRPH2 (RDS) gene sequence analysis.

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

PRPH2
Specificity
100 %
Genes
25 %
Macular dystrophy:PRPH2 (RDS) gene sequence analysis.

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

PRPH2
Specificity
100 %
Genes
25 %
STARGARDT SYNDROME.

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

BEST1, ELOVL4, ABCA4, CNGB3, PRPH2, RPGR, PROM1, RP1L1, RDH12, FSCN2, C1QTNF5, TIMP3, CDH3
Specificity
16 %
Genes
50 %
RETINITIS PIGMENTOSA A.D.

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

BEST1, RP1, ABCA4, PRPH2, RPGR, RPE65, RHO, IMPDH1, CRX, PRPF6, GUCA1B, RGR, NRL, KLHL7, RDH12, SNRNP200, SEMA4A, TOPORS, FSCN2, CA4 , (...)

View the complete list with 7 more genes
Specificity
8 %
Genes
50 %
Cone rod dystrophy.

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

AIPL1, BEST1, ABCA4, CACNA1F, CNGB3, PRPH2, RPGRIP1, RPGR, PROM1, GUCY2D, CRX, C8orf37, CDHR1, PDE6C, ADAM9, CACNA2D4, CABP4, KCNV2, SEMA4A, RGS9 , (...)

View the complete list with 10 more genes
Specificity
7 %
Genes
50 %
Achromatopsia, Cone, and Cone-rod Dystrophy: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

AIPL1, BEST1, PAX6, ABCA4, CACNA1F, CNGB3, CEP290, PRPH2, RPGRIP1, RPGR, PROM1, GUCY2D, CRX, C8orf37, GUCA1B, GNAT2, CDHR1, PDE6C, ADAM9, CACNA2D4 , (...)

View the complete list with 16 more genes
Specificity
6 %
Genes
50 %
Flecked-retina Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ABCA4, PRPH2, RLBP1, RHO, RDH5, PLA2G5
Specificity
17 %
Genes
25 %
Macular Dystrophy / Degeneration / Stargardt Disease: Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

BEST1, ELOVL4, ABCA4, CNGB3, PRPH2, RPGRIP1, RPGR, PROM1, GUCA1B, RDH12, FSCN2, TIMP3, EFEMP1, CDH3, RBP4
Specificity
14 %
Genes
50 %
Achromatopsia, Cone, and Cone-rod Dystrophy: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

AIPL1, BEST1, PAX6, ABCA4, CACNA1F, CNGB3, CEP290, PRPH2, RPGRIP1, RPGR, PROM1, GUCY2D, CRX, C8orf37, GUCA1B, GNAT2, CDHR1, PDE6C, ADAM9, CACNA2D4 , (...)

View the complete list with 16 more genes
Specificity
6 %
Genes
50 %
Flecked-retina Disorders: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ABCA4, PRPH2, RLBP1, RHO, RDH5, PLA2G5
Specificity
17 %
Genes
25 %
Macular Degeneration NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

FBLN5, TLR4, ELOVL4, ABCA4, CNGB3, PRPH2, RPGR, RLBP1, EFEMP1, HTRA1, RAX2, HMCN1, ERCC6, CFB, CFI, CFH, C3, C2, CST3, CX3CR1
Specificity
5 %
Genes
25 %
PRPH2.

By Fulgent Genetics Fulgent Genetics in United States.

PRPH2
Specificity
100 %
Genes
25 %
Flecked Retina Disorders Panel.

By Blueprint Genetics in Finland.

CHM, ELOVL4, ABCA4, PRPH2, RLBP1, RHO, PROM1, RS1, CYP4V2, RDH5, VPS13B, PLA2G5
Specificity
9 %
Genes
25 %
Cone Rod Dystrophy Panel.

By Blueprint Genetics in Finland.

AIPL1, BEST1, ABCA4, CACNA1F, CNGB3, PRPH2, RPGRIP1, RPGR, PROM1, GUCY2D, CRX, CRB1, C8orf37, MERTK, GNAT2, CDHR1, PDE6C, ADAM9, CACNA2D4, CABP4 , (...)

View the complete list with 22 more genes
Specificity
5 %
Genes
50 %
Vitelliform macular dystrophy, adult-onset.

By Bioarray in Spain.

PRPH2
Specificity
100 %
Genes
25 %
FOVEOMACULAR VITELLIFORM DYSTROPHY.

By Laboratorio de Genetica Clinica SL in Spain.

BEST1, PRPH2
Specificity
100 %
Genes
50 %
RETINITIS PIGMENTOSA (AUTOSOMAL DOMINANT).

By Laboratorio de Genetica Clinica SL in Spain.

RP1, PRPH2, RHO, IMPDH1, PRPF31, PRPF3
Specificity
17 %
Genes
25 %
RETINITIS PUNCTATA ALBESCENS.

By Laboratorio de Genetica Clinica SL in Spain.

PRPH2, RLBP1, RHO, RDH5
Specificity
25 %
Genes
25 %
Patterned Macular Dystrophy Type 1 , Sequencing PRPH2 Gene.

By Reference Laboratory Genetics in Spain.

PRPH2
Specificity
100 %
Genes
25 %
Fundus Albipunctatus, Sequencing PRPH2 (RDS) Gene.

By Reference Laboratory Genetics in Spain.

PRPH2
Specificity
100 %
Genes
25 %
Vitelliform Macular Dystrophy, Deletions-Duplications (MLPA) BEST1,PRPH2 Genes.

By Reference Laboratory Genetics in Spain.

BEST1, PRPH2
Specificity
100 %
Genes
50 %
Autosomal Dominant Retinitis Pigmentosa, Panel Massive Sequencing (NGS) 27 Genes.

By Reference Laboratory Genetics in Spain.

BEST1, RP1, ABCA4, PRPH2, RPGR, RPE65, RHO, IMPDH1, CRX, PRPF6, GUCA1B, RGR, NRL, KLHL7, RDH12, SNRNP200, SEMA4A, TOPORS, FSCN2, CA4 , (...)

View the complete list with 7 more genes
Specificity
8 %
Genes
50 %
Cone Rod Distrophy , Panel Massive Sequencing (NGS) 30 Genes.

By Reference Laboratory Genetics in Spain.

AIPL1, BEST1, ABCA4, CACNA1F, CNGB3, PRPH2, RPGRIP1, RPGR, PROM1, GUCY2D, CRX, C8orf37, CDHR1, PDE6C, ADAM9, CACNA2D4, CABP4, KCNV2, SEMA4A, RGS9 , (...)

View the complete list with 10 more genes
Specificity
7 %
Genes
50 %
Stargardt Disease , Panel Massive Sequencing (NGS) 5 Genes.

By Reference Laboratory Genetics in Spain.

ELOVL4, ABCA4, CNGB3, PRPH2, PROM1
Specificity
20 %
Genes
25 %
Stargardt Disease , Panel Massive Sequencing (NGS) 12 Genes.

By Reference Laboratory Genetics in Spain.

BEST1, ELOVL4, ABCA4, CNGB3, PRPH2, PROM1, RP1L1, RDH12, FSCN2, C1QTNF5, TIMP3, CDH3
Specificity
17 %
Genes
50 %
Fundus Albipunctatus, Panel Massive Sequencing (NGS) PRPH2, RDH5, RHO, RLBP1 Genes.

By Reference Laboratory Genetics in Spain.

PRPH2, RLBP1, RHO, RDH5
Specificity
25 %
Genes
25 %
Nonsyndromic Autosomal Dominant Retinitis Pigmentosa: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

BEST1, RP1, PRPH2, RPE65, RHO, IMPDH1, CRX, PRPF6, GUCA1B, NRL, KLHL7, RDH12, SNRNP200, SEMA4A, TOPORS, FSCN2, CA4, PRPF31, PRPF8, HK1 , (...)

View the complete list with 6 more genes
Specificity
8 %
Genes
50 %
BEST1 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

BEST1
Specificity
100 %
Genes
25 %
BEST1 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

BEST1
Specificity
100 %
Genes
25 %
BEST1 Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

BEST1
Specificity
100 %
Genes
25 %
BEST1 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

BEST1
Specificity
100 %
Genes
25 %
Optic Atrophy and Early Glaucoma Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

AUH, BEST1, C12orf65, PAX6, PITX3, OPTN, OPA1, WFS1, FOXC1, PITX2, MFRP, CYP1B1, POLG, OPA3, ACO2, MTPAP, TMEM126A, SPG7, CISD2, NDUFS1 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
25 %
BEST1.

By Institute for Human Genetics University Clinic Freiburg in Germany.

BEST1
Specificity
100 %
Genes
25 %
Best vitelliform macular dystrophy, multifocal.

By Clinic of Pediatrics and Adolescent Medicine General University Hospital in Prague and First Faculty of Medicine, Charles University in Prague in Czech Republic.

BEST1
Specificity
100 %
Genes
25 %
BEST1 mutation analysis.

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

BEST1
Specificity
100 %
Genes
25 %
BEST1. Complete sequencing.

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

BEST1
Specificity
100 %
Genes
25 %
BEST1. Complete sequencing.

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

BEST1
Specificity
100 %
Genes
25 %
Macular dystrophy vitelliform (sequence analysis of BEST1 gene).

By CGC Genetics in Portugal.

BEST1
Specificity
100 %
Genes
25 %
Best Vitelliform Macular Dystrophy (BVMD) and Bestrophinopathies via BEST1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

BEST1
Specificity
100 %
Genes
25 %
Vitreoretinopathy Comprehensive panel.

By Connective Tissue Gene Tests in United States.

BEST1, LRP5, COL2A1, NDP, KCNJ13, RS1, TSPAN12, FZD4, NR2E3, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, ZNF408, KIF11, COL18A1, VCAN, CAPN5
Specificity
6 %
Genes
25 %
Vitreoretinopathy Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

BEST1, LRP5, COL2A1, NDP, KCNJ13, RS1, TSPAN12, FZD4, NR2E3, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, ZNF408, KIF11, COL18A1, VCAN, CAPN5
Specificity
6 %
Genes
25 %
Vitreoretinopathy NGS panel.

By Connective Tissue Gene Tests in United States.

BEST1, LRP5, COL2A1, NDP, KCNJ13, RS1, TSPAN12, FZD4, NR2E3, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, ZNF408, KIF11, COL18A1, VCAN, CAPN5
Specificity
6 %
Genes
25 %
BEST1-Related Retinitis Pigmentosa.

By Bioscientia GmbH Center for Human Genetics in Germany.

BEST1
Specificity
100 %
Genes
25 %
Vitreoretinochoroidopathy.

By Centogene AG - the Rare Disease Company in Germany.

BEST1
Specificity
100 %
Genes
25 %
Macular dystrophy, vitelliform.

By Centogene AG - the Rare Disease Company in Germany.

BEST1
Specificity
100 %
Genes
25 %
Bestrophinopathy.

By Centogene AG - the Rare Disease Company in Germany.

BEST1
Specificity
100 %
Genes
25 %
Retinitis pigmentosa type 50, autosomal dominant.

By Centogene AG - the Rare Disease Company in Germany.

BEST1
Specificity
100 %
Genes
25 %
Single gene testing BEST1.

By CeGaT GmbH in Germany.

BEST1
Specificity
100 %
Genes
25 %
Glaucoma.

By Asper Biogene Asper Biogene LLC in Estonia.

BEST1, PAX6, PITX3, OPTN, FOXC1, PITX2, CYP1B1, LMX1B, MYOC, SBF2, CANT1, ACVR1, ASB10, LTBP2, SLC4A4, WDR36, COL18A1, LTBP3, NTF4, LOXL1
Specificity
5 %
Genes
25 %
Vitreoretinopathy.

By Asper Biogene Asper Biogene LLC in Estonia.

BEST1, LRP5, COL2A1, KCNJ13, RS1, TSPAN12, FZD4, NR2E3, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, ZNF408, KIF11, COL18A1, VCAN, CAPN5, NDP-AS1
Specificity
6 %
Genes
25 %
BEST1/VMD2.

By Molecular Vision Laboratory in United States.

BEST1
Specificity
100 %
Genes
25 %
Dystrophy, Foveomacular vitelliform: BEST1 gene sequence analysis.

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

BEST1
Specificity
100 %
Genes
25 %
Leukodistrophy.

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

TYROBP, BEST1, HSD17B4, PSAP, HSPD1, SCP2, DARS2, ABCD1, PHYH, SDHAF1, NDUFV1, GALC, CYP27A1, SDHA, ARSA, ASPA, EIF2B1, GJC2, PLP1, PEX2 , (...)

View the complete list with 38 more genes
Specificity
2 %
Genes
25 %
Glaucoma (Advance).

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

MTHFR, TTR, BEST1, PAX6, PITX3, OPTN, OPA1, FOXC1, MFRP, CYP1B1, RRM2B, RPGRIP1, CA4, LMX1B, MYOC, RPS19, SBF2, POMT1, ISPD, CANT1 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
25 %
BEST1-related Disorders: BEST1 Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

BEST1
Specificity
100 %
Genes
25 %
BEST1-related Disorders: BEST1 Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

BEST1
Specificity
100 %
Genes
25 %
Cone-Rod Dystrophy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

AIPL1, BEST1, ABCA4, CACNA1F, CNGB3, RPGRIP1, PROM1, GUCY2D, CRX, C8orf37, CDHR1, PDE6C, ADAM9, CACNA2D4, KCNV2, SEMA4A, CERKL, RIMS1, GUCA1A, PITPNM3 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
25 %
Glaucoma NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, TTR, BEST1, PAX6, PITX3, OPTN, OPA1, FOXC1, CYP1B1, RRM2B, CA4, LMX1B, MYOC, RPS19, SBF2, POMT1, ISPD, CANT1, ACVR1, LTBP2 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
25 %
BEST1.

By Fulgent Genetics Fulgent Genetics in United States.

BEST1
Specificity
100 %
Genes
25 %
Vitreoretinopathy Panel.

By Blueprint Genetics in Finland.

BEST1, LRP5, COL2A1, NDP, KCNJ13, RS1, TSPAN12, FZD4, NR2E3, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, CTNNB1, ZNF408, KIF11, CTC1, COL18A1, VCAN , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
25 %
BEST1 full sequence.

By Bioarray in Spain.

BEST1
Specificity
100 %
Genes
25 %
Vitelliform macular dystrophy, adult-onset.

By Bioarray in Spain.

BEST1
Specificity
100 %
Genes
25 %
Best disease.

By Bioarray in Spain.

BEST1
Specificity
100 %
Genes
25 %
BEST DISEASE (BEST'S VITELLIFORM MACULAR DYSTROPHY).

By Laboratorio de Genetica Clinica SL in Spain.

BEST1
Specificity
100 %
Genes
25 %
Vitelliform Macular Dystrophy, Sequencing BEST1 Gene.

By Reference Laboratory Genetics in Spain.

BEST1
Specificity
100 %
Genes
25 %
Leukodystrophies , Panel Massive Sequencing (NGS) 57 genes.

By Reference Laboratory Genetics in Spain.

TYROBP, BEST1, HSD17B4, PSAP, HSPD1, DARS2, ABCD1, PHYH, SDHAF1, NDUFV1, GALC, CYP27A1, SDHA, ARSA, ASPA, EIF2B1, GJC2, PLP1, PEX2, PEX7 , (...)

View the complete list with 36 more genes
Specificity
2 %
Genes
25 %

Alternate names

Macular Dystrophy, Vitelliform, 3; Vmd3 Is also known as vitelliform macular dystrophy, adult-onset;avmd, foveomacular dystrophy, adult-onset;aofmd, foveomacular dystrophy, adult-onset, with or without choroidal neovascularization;aofmd; avmd; adult-onset foveomacular dystrophy; adult-onset foveomacular dystrophy with choroidal neovascularization; adult-onset vitelliform macular dystrophy; gass disease; pseudo-best disease; pseudo-vitelliform macular dystrophy.



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