Carrier and Reproductive Risk
Thrombophilias
Factor V Leiden and prothrombin variants, tested in selected cases.
Panel for inherited clotting factors such as Factor V Leiden and prothrombin G20210A.
- Specimen
- EDTA/citrated blood
- Methodology
- Targeted genotyping (PCR)
- Category
- Carrier and Reproductive Risk
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/citrated blood.
- 3
Analysis
Laboratory analysis — Targeted genotyping (PCR).
- 4
Report
Secure report delivered to your clinic through the portal.
What’s in the report
Variant status for Factor V Leiden and prothrombin G20210A (± additional factors).
Research & evidence
Carrier screening established; adjuncts developingCarrier & reproductive risk
Expanded carrier screening is the ACMG-endorsed standard for identifying reproductive risk. Embryo polygenic scoring and immunogenetic adjuncts are active areas of research, best used within a specialist context.
Limitations: KIR-HLA-C is described by researchers in the field as too early for clinical intervention (Moffett 2016), and the ALIFE2 randomised trial found heparin did not improve live birth in inherited thrombophilia with recurrent loss. Embryo polygenic risk scoring has no established clinical utility and is not a routine test.
Read the research
