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

IllnessHydroa vacciniforme

Request form illness

Summary

Short information

Curated single gene sequence analysis according to the clinical suspicion Hydroa vacciniforme/UV-sensitive syndrome 3

ID
HS8808
Number of genes
1 Accredited laboratory test
Examined sequence length
2,2 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
UVSSA2130NM_020894.4AR

Informations about the disease

Synonyms
  • Sympt.: Cutaneous photosensitivity + slight dyspigmentation without increased risk of skin tumors
  • Alias: UV-sensitive syndrome 3 (UVSSA)
Heredity, heredity patterns etc.
  • AR
OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined