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Interdisciplinary CompetenceMolecular Diagnostics
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IllnessHydroa vacciniforme

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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
Test 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