THROMBOPHILIA GENETIC TESTING

Thrombophilia Genetic Testing — 5-8% of Europeans carry Factor V Leiden or Prothrombin G20210A, and compound genotypes multiply VTE risk dramatically, guiding anticoagulation, contraception, and pregnancy decisions.

Whole genome sequencing evaluates ALL thrombophilia genes — Factor V Leiden (F5), Prothrombin G20210A (F2), protein C (PROC), protein S (PROS1), antithrombin III (SERPINC1), and additional clotting factor variants — from a single comprehensive test.

F5
F2
PROC
PROS1
SERPINC1

About this condition

Thrombophilia — Comprehensive Genetic Testing

Hereditary thrombophilia encompasses genetic variants that increase the risk of venous thromboembolism (DVT and PE). Factor V Leiden (F5 R506Q) is the most common, affecting ~5% of Europeans (heterozygous: 3-8x VTE risk; homozygous: 50-80x risk). Prothrombin G20210A (F2) affects ~2-3% of Europeans (2-5x risk). Protein C deficiency (PROC), protein S deficiency (PROS1), and antithrombin III deficiency (SERPINC1) are rarer but higher-risk.

Compound genotypes dramatically multiply risk: FVL heterozygous + prothrombin heterozygous = ~20x VTE risk (potentially lifelong anticoagulation). FVL homozygous = 50-80x risk. Protein C or antithrombin deficiency + FVL = very high risk. Only comprehensive testing revealing ALL thrombophilia variants enables accurate risk stratification and appropriate anticoagulation duration decisions.

Clinical implications include: anticoagulation duration after first VTE (3-6 months vs. lifelong based on genotype), hormonal contraception counseling (estrogen-containing contraceptives contraindicated in FVL/prothrombin carriers), pregnancy management (LMWH prophylaxis for higher-risk genotypes), and extended post-surgical prophylaxis. Every woman should ideally have thrombophilia screening before starting estrogen-containing contraception.

Estrogen-containing contraceptives are contraindicated in FVL and prothrombin carriers — but 5-8% of European women carry these variants unknowingly. Pre-prescribing thrombophilia screening prevents potentially fatal PE.

Gene locus: F5 (1q24.2), F2 (11p11.2), PROC (2q14.3), PROS1 (3q11.1), SERPINC1 (1q25.1)

Thrombophilia testing determines anticoagulation duration, contraception safety, and pregnancy management. Compound genotypes require comprehensive testing — not single-gene FVL testing alone.

Compound genotypes require ALL variants tested simultaneously — single-gene testing misses critical risk multiplication

Testing FVL alone without prothrombin gives an incomplete picture. A patient with FVL heterozygous (3-8x risk, time-limited anticoagulation) who ALSO carries prothrombin heterozygous (compound ~20x risk, potentially lifelong anticoagulation) would be undertreated. WGS tests all thrombophilia genes simultaneously.

Pre-contraception thrombophilia screening should be universal — WGS identifies the 5-8% of women at elevated VTE risk from estrogen

If every woman had thrombophilia screening before starting estrogen-containing contraception, FVL and prothrombin carriers would receive progestin-only or non-hormonal alternatives — preventing potentially fatal pulmonary embolism. WGS provides this screening alongside comprehensive health genetics.

One test. A lifetime of answers.

One kit, sent to your home. Your entire genome sequenced at the clinical standard used for diagnostic decisions. 200+ physician-ready reports delivered to your Genome Manager in 6–8 weeks — permanent and updated as science advances.

From $449

Ships within 48 hours · Results in 6–8 weeks

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