Male Factor
CFTR / CBAVD
Cystic-fibrosis gene changes linked to blocked or absent sperm ducts.
Detects CFTR variants associated with congenital bilateral absence of the vas deferens.
- Specimen
- EDTA blood
- Methodology
- CFTR variant panel (± sequencing, poly-T/5T)
- Category
- Male Factor
Pricing is available through your BioBloom portal or on request.
How it works
- 1
Order
Place the order through the BioBloom portal.
- 2
Sample
Collect the sample — EDTA blood.
- 3
Analysis
Laboratory analysis — CFTR variant panel (± sequencing, poly-T/5T).
- 4
Report
Secure report delivered to your clinic through the portal.
What’s in the report
CFTR variants detected with carrier interpretation.
Research & evidence
AZF/CFTR established; DNA fragmentation developingMale factor
Y-chromosome (AZF) microdeletion testing and CFTR analysis in CBAVD are well-established diagnostics. Sperm DNA fragmentation and sperm FISH are useful adjuncts, best interpreted alongside the wider workup.
Limitations: AZF and CFTR testing are diagnostic; sperm DNA fragmentation and sperm FISH are adjuncts with no single agreed cut-off. Thresholds are assay-specific, professional bodies differ on when to use them, and a result does not by itself determine treatment.
Read the researchMore in Male Factor
Sperm FISH
Counts chromosome errors directly in sperm.
Y-microdeletions
Missing pieces of the Y chromosome that affect sperm production.
Karyotype (male)
Full chromosome check from a blood sample.
Sperm DNA Fragmentation
DNA damage in sperm, associated with fertilisation and pregnancy-loss outcomes.
