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Test Code LAB4770 Prothrombin G20210A Mutation

Important Note

The performance of the Xpert Factor II & Factor V test has not been evaluated with samples from pediatric patients.

Additional Codes

Test Name in EPIC EPIC Test Code Mnemonic
PROTHROMBIN G20210A MUTATION, WHOLE BLOOD  LAB4770 EH PTNT

 

Useful For/Utility

Aid in the diagnosis of suspected thrombophilia 

Performing Laboratory

SMDC Clinical Lab

Specimen Type

Purple Top EDTA Whole Blood

Specimen Required

Specimen volume: 4 mL EDTA whole blood, (minimum 1 mL EDTA whole blood)
Collection Instructions:
Do not centrifuge or concentrate the whole blood sample by plasma removal.  Transport in original collection tube.
 

Specimen Stability Information

Samples should be stored at 2-8C if transport to performing laboratory is longer than 24 hours.

Whole blood is stable up to 15 days when stored at 2-8C.

Whole blood samples may be stored at -20C or -80C for up to 3 months (use of freezer compatible storage vial is recommended).

 

Specimen Transport Temperature:
Refrigerate (preferred)/Frozen OK/Ambient NO
 

Method and Method Description

Cepheid GeneXpert System by real-time polymerase chain reaction (PCR) 

 

This test uses the Cepheid Xpert FII & FV assay to detect Factor II (G20210A) mutations using real-time polymerase chain reaction (PCR) on the Cepheid GeneXpert Instrument System. The primers and probes in the Xpert FII & FV assay determine the genotype of the Factor II gene (at position 20210). The Factor II (G20210A) mutation refers to the G to A transition at nucleotide 20201 in the 3' untranslated region of the gene and is associated with increased levels of prothrombin. Prothrombin (G20210A) mutations are present in 2% of the general population. The Cepheid Xpert FII & FV assay is FDA-cleared; its performance was verified by Essentia Health-SMDC Clinical Laboratory.

Day(s) Test Set Up

Monday - Friday

CPT/LOINC

CPT:  81240

LOINC

Prothrombin G20210A Mutation:   24775-6

Prothrombin Mutation Method Comment: 85069-3

 Prothrombin Mutation Limitations: 77202-0

Reference Values

Normal (No mutation detected)