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Prothrombin Variant (G20210A) Analysis
Short Description : Prothrombin mutation analysis
Also known as : [Factor II Mutation Analysis],[Prothrombin Mutation Analysis],[Prothrombin Variant Analysis]

DNA/RNA
Test performed by: LabPLUS - Dept. Diagnostic Genetics - Molecular Haematology

Specimen Collection

Note: All samples should be forwarded to LabPlus at room temperature within 24hours.


CPD

4 mL CPD Blood (Preferred)

EDTA

4 mL EDTA Blood
Turnaround Time: Within 2 weeks, 4 days
Diagnostic Use and Interpretation

This test detects a common variant in the Prothrombin gene. Results can be used to establish a heritable cause for an increased risk of thrombosis.

See also:

Factor V Leiden mutation analysis


Diagnostic Use and Interpretation
Contact Information

To contact the Molecular Haematology team please call:

Auckland City Hospital (09) 307 4949
Lablink ext 22000
Prof. Peter Browett (Haematologist) ext 9090-86281
Dr. Imogen Caldwell (Haematologist) ext 22006
Nikhil Ghallayan (Section Leader) ext 22005
Molecular Haematology Office ext 22005

For more information about the Molecular Haematology service at LabPLUS:

Molecular Haematology information page



Information on the Prothrombin Variation (G20210A):

A common genetic variation in the 3'-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis. Up to 18% of patients with a family history of venous thrombosis have been reported to be carriers of this variant as compared to approximately 1% in the general population. Heterozygous patients have a 3 - 4 fold increased risk of thrombosis. The prothrombin 20210A allele is detected by PCR of a 169bp product of the 3'-untranslated region of the gene using a downstream mutagenic primer which introduces a Hind III site in the presence of the A allele.

References:
Poort SR et al. Blood 88: 3698-3703; 1966


Last updated at 15:36:59 07/03/2024