Thrombophilias
Factor V Leiden and prothrombin variants, tested in selected cases.
- Sample
- EDTA/citrated blood
- Method
- Targeted genotyping (PCR)
- Price
- On request
About this test
Panel for inherited clotting factors such as Factor V Leiden and prothrombin G20210A.
What the report contains
Variant status for Factor V Leiden and prothrombin G20210A (± additional factors).
Evidence and limitations
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.
More in Carrier and reproductive risk
- Expanded Carrier Screening
Checks both partners for recessive conditions they could pass on.
- KIR-HLA-C
Types maternal KIR and partner HLA-C, an emerging marker studied in implantation failure.
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