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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessBestrophinopathies, differential diagnosis

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Summary

Short information

A curated panel containing 4 genes for the comprehensive analysis of the genetically caused forms of bestrinopathy

ID
BP9230
Number of genes
4 Accredited laboratory test
Examined sequence length
1,8 kb (Core-/Core-canditate-Genes)
9,0 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test 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

Synonyms
  • Alias: BEST1 adult-onset vitelliform macular dystrophy (BEST1)
  • Alias: Morbus Best, Best disease
  • Alias: Retinopathie Typ Burgess-Black
  • Best vitelliform macular dystrophy (BEST1)
  • Bestrophinopathy, AR (BEST1)
  • Macular dystrophy, patterned, 1 (PRPH)
  • Macular dystrophy, vitelliform, 2 (BEST1)
  • Macular dystrophy, vitelliform, 3 (PRPH)
  • Macular dystrophy, vitelliform, 4 (IMPG1)
  • Macular dystrophy, vitelliform, 5 (IMPG2)
  • Vitreoretinochoroidopathy AD (BEST1)
Heredity, heredity patterns etc.
  • AD
  • AR
  • digenisch
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined