Factor V DNA Screen
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.1601G>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
- Synonyms
- APC CoFactor-DNA, DNA-Factor V, Factor 5 DNA Screen, Factor 5 Leiden, Factor V Leiden, Factor V PCR
- Components
-
Code Name FVRSLT Factor 5 Result FVINT Factor 5 Interpretation FVMETH Factor 5 Methods FVDI Factor 5 Director
Interpretation
- Method
Next-generation sequencing
The presence of either normal or variant (NM_000130.4 c.1601G>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.
- Guidelines
Ordering & Collection
- Specimen Type
- Blood, Saliva
- 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
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 98195Tel: 206-598–6429 M–F (7:30 AM–4:00 PM)
Fax: 206-616-4584
Lab email: cgateam@uw.eduTel (EXOME only): 206-543-0459
Faculty
Jillian Buchan, PhD, FACMG
Runjun Kumar, MD, PhD
Regina Kwon, MD, MPH
Christina Lockwood, PhD, DABCC, DABMGG
Abbye McEwen, MD, PhD
Colin Pritchard, MD, PhD
Vera Paulson, MD, PhD
Eric Konnick, MD, MS
He Fang, PhD - 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
- Interfaced Order Code
- UOW1681