Factor V DNA Screen

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General Information

Lab Name
Factor V DNA Screen
Lab Code
F5DNA
Epic Ordering
Factor V DNA Screen
Description

The factor V Leiden variant (HGVS nomenclature NM_000130.4 c.1691G>A p.R534Q; legacy nomenclature R506Q, p.Arg506Gln, 1691G>A) in the factor V gene (F5) is present in approximately 3% of the general population, and in about 20-50% of patients with a history of unexplained recurrent venous thrombosis. The presence of a glutamine instead of an arginine residue removes a site in factor V that is normally cleaved by activated protein C, and is associated with resistance to activated protein C. Presence of this polymorphism substantially increases the lifetime risk of venous thrombosis. This test detects the underlying defect present in almost all cases of resistance to activated protein C.

Indications for testing include:

  • Evaluation of recurrent or familial venous thrombosis
  • Carrier testing in family already known to carry the factor V Leiden mutation
  • Evaluation of recurrent pregnancy loss

**Laboratory Medicine resident's approval is required for hospital inpatients and patients in Emergency Department.

**See also Activated Protein C Resistance [APCR].

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, Goodnight SH. Factor V Leiden thrombophilia. In: Pagon RA, Bird TC, Dolan CR, Stephens K, editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. 1999 May 14 [updated 2018 Jan 4]. 20301542
Forms & Requisitions

Genetics Requisition

Synonyms
APC CoFactor-DNA, DNA-Factor V, Factor 5 DNA Screen, Factor 5 Leiden, Factor V Leiden, Factor V PCR
Components

Interpretation

Method

Next-generation sequencing

The presence of either normal or variant (NM_000130.4 c.1691G>A p.R534Q, legacy nomenclature Gln506/1691A; also known as Factor V Leiden) alleles of the F5 gene are detected by next-generation sequencing. 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

Normal result: no mutations 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, Goodnight SH. Factor V Leiden thrombophilia. In: Pagon RA, Bird TC, Dolan CR, Stephens K, editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. 1999 May 14 [updated 2018 Jan 4]. 20301542
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

Outside Laboratory: Ship whole blood at ambient temperature to arrive within 1 week of specimen collection.

**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. Refrigerate whole blood up to 1 week.

Quantity
requested: Entire specimen
minimum: 1 mL whole blood

Processing

Processing

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
81241
Billing Comments

For pricing information, contact Client Support Services 206-520-4600 or 800-713-5198.

LOINC
21667-1