Thrombophilia (TPGS): F2 and F5 Genotyping

Diagnostic Use

The presence of either the Factor V Leiden or Prothrombin c.20210G>A variants in the heterozygous state is a risk factor for thrombosis, including deep vein thrombosis (DVT), and have also been associated with recurrent pregnancy loss.

There is a reported association between oral contraceptive use, the prothrombin c.20210G>A variant, and cerebrovascular events, so genotyping may be indicated before initiation of oral contraception.

Reduced activated protein-C ratio (APCR) may indicate presence of the FVL variant (normal - APCR >2.1, heterozygous FVL - APCR 1.5-1.8, homozygous FVL - APCR <1.5).

Department

Genetics - Molecular Pathology

Delphic Registration Code

TPGS

Synonyms

Factor V Leiden Mutation
Prothrombin 20210 Mutation
Thrombophilia Gene Screen

Turnaround Time

4 weeks

Test Code

4589

Specimen Type

• Whole Blood

Specimen Requirements

Tube/Container Type:

Preferred

• EDTA (Lavender Cap)

Preferred Sample Volume (ml)

4.0

No of Samples Required

1

Paediatric Specimen Requirements

Tube/Container Type:

Preferred

• EDTA (Lavender Cap)

Preferred Sample Volume (ml)

1.0

Minimum Sample Volume (ml)

0.5

Additional Specimen Information

This genetic test needs nucleated cells. Please don’t centrifuge or freeze the EDTA blood tube.
If storing blood tube prior to delivery please refrigerate at 4 degrees (transport still at ambient temperature).

Aliquot Instructions

Sample Type

• Whole Blood

Transport to Lab

Ambient (8 - 24 degrees Celsius)

Additional Referral/Aliquot Information

Please don’t centrifuge or freeze the EDTA blood tube.
If storing blood tube prior to delivery please refrigerate at 4 degrees (transport still at ambient temperature).

Interpretation

Heterozygosity for either the FVL or prothombin c.20210G>A variants indicates a 2-3 fold increased risk of thrombosis.

Compound heterozygosity, or homozygosity for either variants, is associated with an appreciable thrombotic risk and such patients may require ongoing clincal care.

Test Method

PCR using sequence-specific FRET hybridization probes (hyb-probes) to detect the Factor V Leiden (F5:c.1691G>A) and Prothrombin (F2:c.20210G>A) mutations.

Non-Funded Test Cost

$213.17 (Exclusive of GST)

Billing Code

4589

Genomic DNA must be extracted from the specimen prior to testing. This incurs an additional charge (see GDNA). Laboratories may prefer to submit DNA for testing. Please provide a minimum of 5 micrograms of DNA at 20 nanograms / microlitre.

Contact Information

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