Deutsch
IllnessBronchiektasen, Differentialdiagnose
Summary
Short information
A curated panel containing 1 guideline-curated gene and altogether 8 curated genes for the comprehensive analysis of the genetically caused forms of bronchiectases
ID
BP8765
Number of loci
| Loci type | Count |
|---|---|
| Gen | 8 |
Examined sequence length
27,4 kb (Core-/Core-canditate-Genes)
31,7 kb (Extended panel: incl. additional genes)
31,7 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
[Sanger]
Loci panel
Informations about the disease
Clinical Comment
illness_ClinicalComment_BP8765
Synonyms
- Agammaglobulinemia, XL 1 (BTK)
- Allelic: Congenital bilateral absence of vas deferens (CFTR)
- Allelic: Cystic fibrosis (CFTR)
- Allelic: Hemorrhagic diathesis due to antithrombin Pittsburgh (SERPINA1)
- Allelic: Liddle syndrome 1 (SCNN1B)
- Allelic: Liddle syndrome 2 (SCNN1G)
- Allelic: Liddle syndrome 3 (SCNN1A)
- Allelic: Pseudohypoaldosteronism, type I (SCNN1A)
- Allelic: Pseudohypoaldosteronism, type I (SCNN1B)
- Allelic: Pseudohypoaldosteronism, type I (SCNN1G)
- Allelic: Sweat chloride elevation without CF (CFTR)
- Autoimmune disease, multisystem, infantile-onset, 1 (STAT3)
- Bronchiectasis with/-out elevated sweat chloride 1 (SCNN1B)
- Bronchiectasis with/-out elevated sweat chloride 2 (SCNN1A)
- Bronchiectasis with/-out elevated sweat chloride 3 (SCNN1G)
- Ciliary dyskinesia, primary, 3, with/-out situs inversus (DNAH5)
- Emphysema due to AAT deficiency (SERPINA1)
- Emphysema-cirrhosis, due to AAT deficiency (SERPINA1)
- IgE recurrent infection syndrome (STAT3)
- Immunodeficiency 14 (PIK3CD)
- Isolated growth hormone deficiency, type III, with agammaglobulinemia (BTK)
Heredity, heredity patterns etc.
- AD
- AR
- Mult
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined