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Interdisciplinary CompetenceMolecular Diagnostics
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IllnessBlau-Syndrom

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Summary

Short information

BS0001_KI

ID
BS0001
Number of loci
Loci typeCount
Gen1
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

 

Loci panel

Gen

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

Informations about the disease

Clinical Comment

illness_ClinicalComment_BS0001

 

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