Prothrombin DNA Screen
General Information
Lab Name
Prothrombin DNA Screen
Lab Code
PRODS
Epic Name
Prothrombin DNA Screen
Description
**Laboratory Medicine resident's approval is required for hospital inpatients and patients in Emergency Department.**
Prothrombin (factor II) is one of the blood coagulation factors. A variant (commonly known as nucleotide 20210G>A; G20210A; NM_000506.4:c.*97G>A) in the 3' untranslated region of the prothrombin gene (F2) is associated with an increased risk for venous thrombosis. Approximately 20% of Dutch patients with a family history of venous thrombosis are heterozygotes for the 20210A allele, as compared to about 1% of healthy controls. In a population-based study, the 20210A allele appears to increase the risk of venous thrombosis about threefold for adults of both sexes. This test determines the presence or absence of the 20210G (normal) and 20210A (variant) alleles in the prothrombin gene.
Indications for testing include:
- Evaluate cause of recurrent or familial venous thrombosis
- Presymptomatic testing in a family known to carry a 20210A variant allele
- Evaluate recurrent pregnancy loss
References
- Coppola A, Tufano A, Cerbone AM, and Di Minno G. Inherited thrombophilia: implications for prevention and treatment of venous thromboembolism. Semin Thromb Hemost 2009, 35:683-94. 20013535
- Segal JB, et al. Predictive value of factor V Leiden and prothrombin G20210A in adults with venous thromboembolism and in family members of those with a mutation: a systematic review. JAMA 2009, 301:2472-85. 19531787
- Kujovich JL. Prothrombin Thrombophilia. In: Pagon RA, Bird TC, Dolan CR, Stephens K, editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-, 2006 Jul 25. [updated 2014 Aug 14]. 20301327
Synonyms
Factor 2-DNA, Factor II-DNA, Prothrombin 20210 or 20210A, Prothrombin Mutation
Components
| Code | Name |
|---|---|
| PDRSLT | Prothrombin DNA Result |
| PDINT | Prothrombin DNA Interpretation |
| PDMETH | Prothrombin DNA Method |
| PDDI | Prothrombin DNA Director |
Interpretation
Method
Next-generation sequencing is performed to detect the variant F2 allele. In Human Genome Variation Society nomenclature, this variant is officially designated as NM_000506.4:c.*97G>A. This test was developed and its performance characteristics determined by the Department of Laboratory Medicine at the University of Washington.
Reference Range
See individual components
Ref. Range Notes
No variant nucleotide 20210A (NM_000506.4:c.*97G>A) detected.
Guidelines
Ordering & Collection
Specimen Type
Collection
BLOOD:
- Adult: 3 mL LAVENDER TOP tube
- Child: 2 mL LAVENDER TOP tube
- Also acceptable: YELLOW TOP (ACD) or blue top tube
- Unacceptable: Heparin green top tubes
SALIVA:
Contact laboratory for validated collection kit.
Forms & Requisitions
Handling Instructions
Refrigerate whole blood up to 1 week
Outside Laboratory: Ship whole blood at ambient temperature to arrive within 1 week of specimen collection
Quantity
requested: Entire specimen
minimum: 1 mL whole blood
Processing
**Laboratory Medicine resident's approval is required for hospital inpatients and patients in Emergency Department.** Approval is NOT required for hospital outpatients, clinic patients or outside clients.
Performance
LIS Dept Code
Genetics (GEN)
Performing Location(s)
| UW-MT |
Genetics
Attention: Genetics Lab Tel: 206-598–6429 M–F (7:30 AM–4:00 PM) Tel (EXOME only): 206-543-0459 |
Faculty |
|---|
Frequency
Performed weekly. Results within 2 weeks.
Available STAT?
No
Billing & Coding
CPT codes
81240
Billing Comments
For pricing information, contact Client Support Services 206-520-4600 or 800-713-5198.
LOINC
Interfaced Order Code
UOW979