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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
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IllnessMacular dystrophy, vitelliform, differential diagnosis

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Summary

Short information

A curated panel containing 4 genes for the comprehensive analysis of the suspected vitelliform Macular dystrophy

ID
MP0810
Number of genes
4 Accredited laboratory test
Examined sequence length
9,0 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
BEST11758NM_004183.4AD, AR
IMPG12394NM_001563.4AD, AR
IMPG23726NM_016247.4AD
PRPH21041NM_000322.5AD, AR, digenisch

Informations about the disease

Clinical Comment

Loss of central visual acuity, metamorphopsia + decrease in the Arden ratio secondary to an egg yolk-like lesion located in the foveal or parafoveal region

 

Synonyms
  • Alias: Adult-onset foveomacular dystrophy with choroidal neovascularization
  • Alias: Adult-onset foveomacular vitelliform dystrophy
  • Alias: Autosomal recessive bestrophinopathy
  • Alias: BEST1 adult-Onset Vitelliform Macular Dystrophy
  • Alias: Best vitelliform macular dystrophy
  • Alias: Early-onset vitelliform macular dystrophy
  • Alias: Juvenile-onset vitelliform macular dystrophy
  • Alias: Pseudo-vitelliform macular dystrophy
  • Alias: polymorphic vitelline macular degeneration
  • Allelic: Bestrophinopathy, AR (BEST1)
  • Allelic: Choroidal dystrophy, central areolar 2 (PRPH2)
  • Allelic: Leber congenital amaurosis 18 (PRPH2)
  • Allelic: Microcornea, rod-cone dystrophy, cataract, posterior staphyloma (BEST1)
  • Allelic: Retinitis pigmentosa 56 (IMPG2)
  • Allelic: Retinitis pigmentosa 7 and digenic form (PRPH2)
  • Allelic: Retinitis pigmentosa, concentric (BEST1)
  • Allelic: Retinitis pigmentosa-50 (BEST1)
  • Allelic: Retinitis punctata albescens (PRPH2)
  • Allelic: Vitreoretinochoroidopathy (BEST1)
  • Best vitelliform macular dystrophy (BEST1)
  • Macular dystrophy, patterned, 1 (PRPH2)
  • Macular dystrophy, vitelliform, 2 (BEST1)
  • Macular dystrophy, vitelliform, 3 (PRPH2)
  • Macular dystrophy, vitelliform, 4 (IMPG1)
  • Macular dystrophy, vitelliform, 5 (IMPG2)
Heredity, heredity patterns etc.
  • AD
  • AR
  • digenisch
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined