Deutsch
IllnessSterility, CBAVD
Summary
Short information
Guideline-curated single gene sequence analysis according to the clinical suspicion Sterility ["Congenital bilateral agenesis of vas deferens", CBAVD]
ID
CS5130
Number of genes
1
Accredited laboratory test
Examined sequence length
4,5 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 +
Sanger
Gene panel
Selected genes
| Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
|---|---|---|---|---|
| CFTR | 4443 | NM_000492.4 | AD, AR |
Informations about the disease
Clinical Comment
Male infertility
Synonyms
- Alias: Congenital bilateral absence of vas deferens (CFTR)
- Alias: Congenital bilateral agenesis of vas deferens (CFTR)
- Alias: Congenital bilateral aplasia of vas deferens (CFTR)
- Alias: Vas deference, congenital bilateral aplasia of (CFTR)
- Alias: Vas deference, congenital unilateral aplasia of (CFTR)
- Cystic fibrosis transmembrane conductance regulator gene (CFTR)
Heredity, heredity patterns etc.
- AD
- AR
OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined