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

IllnessBradyopsia

Request form illness

Summary

Short information

2 curated single gene sequence analyses according to clinical suspicion of genetically caused bradyopsia

ID
BP0050
Number of genes
2 Accredited laboratory test
Examined sequence length
2,8 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
RGS92025NM_003835.4AR
RGS9BP708NM_207391.3AR

Informations about the disease

Clinical Comment

Prolonged electroretinal response suppression leading to difficulties adjusting to changes in luminance, normal to subnormal acuity + photophobia

 

Synonyms
  • Alias: Prolonged electroretinal response suppression
  • Sympt.: stationary subn. visual acuity, photophobiaX
  • Bradyopsia (RGS9, RGS9BP)
Heredity, heredity patterns etc.
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
H53.8

Bioinformatics and clinical interpretation

No text defined