Prothrombin DNA Screen

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General Information

Lab Name
Prothrombin DNA Screen
Lab Code
PRODS
Epic Ordering
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
Forms & Requisitions

Genetics Requisition

Synonyms
Factor 2-DNA, Factor II-DNA, Prothrombin 20210 or 20210A, Prothrombin Mutation
Components

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.

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
Guidelines

Ordering & Collection

Specimen Type
Blood, Buccal cells for hematopoietic transplant patients, buccal cells (approval required, see below)
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

BUCCAL SWABS (only when received within 24 hours from collection. Samples received outside of this window will be rejected. Contact the Genetics lab to coordinate testing prior to specimen collection at 206-598–6429 M–F (7:30 AM – 4:00 PM))

Forms & Requisitions

Genetics Requisition

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

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
Clinical lab, Room NW220
University of Washington Medical Center
1959 NE Pacific Street
Seattle, WA 98195

Tel: 206-598–6429 M–F (7:30 AM–4:00 PM)
Fax: 206-598–0304
Lab email: genelab@uw.edu

Tel (EXOME only): 206-543-0459

Manager

Rebecca Gaulin, rgaulin@uw.edu

Genetic Counselors

Angela Jacobson, MS, LGC agibson@uw.edu
Sarah Paolucci, MA, MS, LGC, spaolucc@uw.edu
Jenna Huey, MS, LGC, jlhuey@uw.edu
Sandra Coe, MS,LGC, scoe20@uw.edu
Dru Leistritz, MS, LGC, dru2@uw.edu (EXOME testing only)

Variant Review Scientist

Ankita Jhuraney, PhD

Faculty

Colin C. Pritchard, MD, PhD
Brian H. Shirts, MD, PhD
Christina Lockwood, PhD, DABCC
Stephen Salipante, MD, PhD
Eric Konnick, MD, MS
Niklas Krumm, MD,PhD
Vera Paulson, MD, PhD
Jillian Buchan, PhD, FACMG

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
24475-6