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

Summary

ID
BS0001
Number of genes
1 Accredited laboratory test
Examined sequence length
3,2 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

BS0001_DH

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
NOD23123NM_022162.3AD

Informations about the disease

Clinical Comment

Blau syndrome is a subtype of sarcoidosis, which is characterized by early manifestations of granulomatous arthritis, uveitis and skin rashes. The symptoms usually begin early, with patients as young as one month old being described. There is redness and a rash on the face, which quickly spreads to the trunk. These symptoms occur episodically and disappear without treatment. Around the age of 10, the typical arthritis symptoms on the feet and wrists begin. The cause is a pathogenic variant in the NOD2 gene.

However, a negative molecular genetic result does not rule out a disease in the diagnostic spectrum of sarcoidosis.

(Reference: https://www.orpha.net/en/disease/detail/90340)

 

Synonyms
  • Blau Syndrom
  • Jabs syndrome
  • Jabs-Blau-Syndorm
  • Jabs-Krankheit
  • arthrocutaneouveal granulomatosis
  • blau syndrome
  • familiäres juveniles systemisches Granulomatose-Syndrom
  • granulomatosis, familial juvenile systemic
  • granulomatosis, familial, blau type
  • granulomatous inflammatory arthritis, dermatitis, and uveitis, familial
  • granulomatöse periorifaziale Dermatitis
  • sarcoidosis, early-onset
Heredity, heredity patterns etc.
  • AD
OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined