FACTOR II MUTATION, DNA (PROTHROMBIN) 20210

Message

Parent (primary) tube must be sent. Cannot add on to a previously tested sample.

Test Code

FACII

CPT Codes
81240

Preferred Specimen

1 Lavender tube (EDTA)

Minimum Volume

1 mL

Other Acceptable Specimens

1 Pink tube (EDTA) or
1 Blue tube (Sodium Citrate)

Instructions

Do not centrifuge; Refrigerate until testing.

Transport Temperature

Refrigerate

Specimen Stability

15-25°C up to 24 hours
2-8°C up to 15 days
-20 to -80°C up to 3 months in freezer compatible vial

Methodology
PCR (Polymerase Chain Reaction)

Setup Schedule

M, Tu, W, Th, F

Report Available

Report available the following day.

Reference Range

Homozygous Normal Genotype (negative)

Clinical Significance

Factor II Mutation analysis aids in evaluation of risk for patients with suspected venous thrombosis. People who have prothrombin mutation G20210A have a 2-to-3 fold increase in the risk of Deep Venous Thrombosis. This test aids in the evaluation of the risk for venous thrombosis. The Xpert® Factor II & Factor V Assay is a qualitative in vitro diagnostic genotyping test for the detection of Factor II and Factor V alleles from sodium citrate or EDTA anticoagulated whole blood. The test is performed on the Cepheid GeneXpert® Dx System. This test is intended to provide results for Factor II (G20210A)) and Factor V (G1691A) Leiden mutations as an aid in the diagnosis in individuals with suspected thrombophilia.

The association of Factor II and Factor V Leiden mutations with an increased risk for venous thrombosis has been well documented. The Factor II or Prothrombin mutation refers to the G to A transition at nucleotide in the untranslated region of the gene and is associated with increased plasma levels of prothrombin. Factor V Leiden (G1691A) refers to the G to A transition at nucleotide position 1691 of the Factor V gene, resulting in the substitution of the amino acid arginine by glutamine in the Factor V protein, causing resistance to cleavage by Activated Protein C (APC).

Factor II (G20210A) and Factor V Leiden (G1691A) mutations are present in 2% and 5% of the general population, respectively.

Performed By
Alverno Laboratories

Performing Laboratory
Alverno Central Lab
NMB16 (Molecular Biology, CEPHEID)

Last Updated: June 7, 2023

The CPT Codes provided in this document are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed. Any Profile/panel component may be ordered separately. Reflex tests are performed at an additional charge.