Prothrombin 20210A : F2 Targeted Analysis

Test Information

F2 targeted analysis is a molecular test used to identify the common 20210G>A variant in the gene associated with Prothrombin.

Turnaround Time

1 week

CPT Code(s)

81240

Cost

$150

Genes

Clinical Information

Two mutations within genes in the blood coagulation pathway that have been implicated as significant factors for thrombotic risk. These two defects, factor V Leiden and prothrombin 20210A, are responsible for over 60% of all cases of inherited thrombophilia. In addition to being significant risk factors for hypercoagulation, the mutations are frequently found in, but are not limited to, people of European descent. Carriers of the Leiden R506Q mutation have an 8 fold increased risk for venous thrombosis and homozygotes have a 91 fold increased risk. Specific acquired or environmental factors may dramatically increase this baseline risk. Approximately 5% percent of the Caucasian population carries the Factor V Leiden mutation. Three percent of the Caucasian population carries the prothrombin mutation. The molecular diagnosis of these mutations is done with the polymerase chain reaction and restriction endonuclease digestion or allele specific oligonucleotide amplification.

Indications

Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.

Specimen Requirements

5 to 7 ml of peripheral blood collected in an EDTA (lavender top) tube is the preferred specimen type. The minimal blood needed for reliable DNA isolation is 3 ml. Extracted DNA, dried blood spots, and saliva are also accepted for this test.

Transport Instructions

The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.

Prenatal Testing Information

Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.

Have Questions Need Support?

Call our laboratory at 1-800-473-9411 or contact one of our Laboratory Genetic Counselors for assistance.
Robin Fletcher, MS, CGC
Kellie Walden, MS, CGC

Molecular Testing, Targeted Analysis
Meet Reggie Roper

Meet Reggie Roper

Reggie has been part of the GGC family for over 18 years. He has short stature, webbing of his hands, pulmonary stenosis, seizures and hydrocephalus along with developmental delay. He carried an initial diagnosis of cardiofaciocutaneous (CFC) syndrome; however, as genetic testing advanced, GGC made the diagnosis of Noonan-like syndrome with loose anagen hair by identifying a mutation in the SHOC2 gene. He is also an active participant in the Greenwood Community Theatre's Penguin Project. "GGC is...

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