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Prothrombin G20210A Mutation
MessageWilford Hall
Test Code
WH48
Alias/See Also
FACTOR II DNA
Preferred Specimen
Whole Blood 5 mL
Instructions
NO SHARED SAMPLES
Transport Container
LAV/EDTA
Transport Temperature
REFRIGERATE
Specimen Stability
Room Temp
Reference Range
"Positive or negative for the following mutation: G20210A
The G20210A mutation in the Prothrombin (Factor II) gene is the second most
common inherited risk factor for thrombosis. Individuals who have one copy of
the mutation are at a 3- to 6-fol
The G20210A mutation in the Prothrombin (Factor II) gene is the second most
common inherited risk factor for thrombosis. Individuals who have one copy of
the mutation are at a 3- to 6-fol
Clinical Significance
"For results indicating ABSENT - PT IS UNAFFECTED: The patient is predicted to be homozygous normal for the 20210 A allele of the Prothrombin gene. This does not exclude other possible defects in the Prothrombin (Factor II) gene and
other components of the coagulation control pathway.
For results indicating PT IS HETEROZYGOUS FOR THIS MUTATION: The patient is predicted to be a carrier of a mutation in the 20210 A allele of the Prothrombin gene. This does not exclude other possible defects in the
Prothrombin (FACTOR II) gene or other components of the coagulation control pathway. Genetic counseling is recommended.
For results indicating PT IS HOMOZYGOUS FOR THIS MUTATION: The patient is predicted to be homozygous affected for a mutation in the 20210 A allele of
the Prothombin (FACTOR II) gene. Genetic counseling is recommended.
BACKGROUND: Factor II is a prethrombotic mutation and is considered an important risk factor for venous thrombosis. This mutation involves a guanine to adenosine (G to A) transition at nucleotide 20210 of the gene encoding prothrombin, the inactive precursor of thrombin, which is the end product of the coagulation cascade. The importance of this transition is still under investigation. However, heterogygous carriers are reported to have up to a
30% risk of deep venous thrombisis that is 3 to 6 times that of the general population. A synergy appears to exist between the Factor II allele and the Factor V Leiden mutation. Recent studies support claims that the presence of
both mutations increases the risk of thrombotic events.
METHOD: The LightCycler - Factor II Mutation Detection is specifically adapted for PCR in glass capillaries using the LightCycler Instrument and the hybridization probes for the genotyping of the Factor II point mutation."
other components of the coagulation control pathway.
For results indicating PT IS HETEROZYGOUS FOR THIS MUTATION: The patient is predicted to be a carrier of a mutation in the 20210 A allele of the Prothrombin gene. This does not exclude other possible defects in the
Prothrombin (FACTOR II) gene or other components of the coagulation control pathway. Genetic counseling is recommended.
For results indicating PT IS HOMOZYGOUS FOR THIS MUTATION: The patient is predicted to be homozygous affected for a mutation in the 20210 A allele of
the Prothombin (FACTOR II) gene. Genetic counseling is recommended.
BACKGROUND: Factor II is a prethrombotic mutation and is considered an important risk factor for venous thrombosis. This mutation involves a guanine to adenosine (G to A) transition at nucleotide 20210 of the gene encoding prothrombin, the inactive precursor of thrombin, which is the end product of the coagulation cascade. The importance of this transition is still under investigation. However, heterogygous carriers are reported to have up to a
30% risk of deep venous thrombisis that is 3 to 6 times that of the general population. A synergy appears to exist between the Factor II allele and the Factor V Leiden mutation. Recent studies support claims that the presence of
both mutations increases the risk of thrombotic events.
METHOD: The LightCycler - Factor II Mutation Detection is specifically adapted for PCR in glass capillaries using the LightCycler Instrument and the hybridization probes for the genotyping of the Factor II point mutation."
