Deutsch
IllnessAngioedema, hereditary
Summary
Short information
Guideline-curated single gene sequence analysis according to the clinical suspicion Angioedema, hereditary
ID
AS1004
Number of genes
1
Accredited laboratory test
Examined sequence length
1,6 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
Selected genes
| Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
|---|---|---|---|---|
| SERPING1 | 1503 | NM_000062.3 | AR, AD |
Informations about the disease
Clinical Comment
Transitory, recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain
Synonyms
- Alias: Hereditary angioneurotic edema type I + II [HAE1 + HAE2] (SERPING1)
- Allelic: Complement component 4, partial deficiency of (SERPING1)
- Angioedema, hereditary, types I + II [SERPING1}
Heredity, heredity patterns etc.
- AD
- AR
OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined