CFTR / CBAVD
Cystic-fibrosis gene changes linked to blocked or absent sperm ducts.
- Sample
- EDTA blood
- Method
- CFTR variant panel (± sequencing, poly-T/5T)
- Price
- On request
About this test
Detects CFTR variants associated with congenital bilateral absence of the vas deferens.
What the report contains
CFTR variants detected with carrier interpretation.
Evidence and limitations
Y-chromosome (AZF) microdeletion testing and CFTR analysis in CBAVD are well established, and NICE NG257 recommends them for defined groups of men. Sperm FISH is a specialist adjunct, best interpreted alongside the wider workup.
Limitations
AZF and CFTR testing are established in defined groups of men; sperm FISH is a specialist adjunct with assay-specific thresholds, and no single result determines treatment. NICE NG257 (recommendation 1.17.6) advises against sperm DNA fragmentation testing, so it is not on our menu.
More 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.
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