Factor 5 Leiden Mutation Analysis


Sunquest Code:F5MDCoPath Code:F5PCR
Epic Code:LAB346Epic Name:Factor 5 Leiden Mutation Analysis
Sunquest Code (non-Epic sites):F5MA  
Order Instructions:Copath code: F5PCR, order LAB4603 in EPIC if both Factor 5 and Factor 2 requested.
Synonyms:Factor 5 PCR; Factor V by Invader; APC Resistance; EFVMA; F5PCR; Resistance to Activated Protein C; F5MD
Methodology:Amplification of DNA and restriction endonuclease digestion of amplification product
CPT Code:81241, G0452
Turnaround Time:Results are reported within 5 days.
Special Instructions:

Test should be ordered through a genetic counselor, or medical geneticist. Patient must be counseled regarding this test: Counseling is available through the Molecular Diagnostics genetic counselor at 612-273-8948. A signed informed consent in the patient's medical record is required; the consent should not be sent to the laboratory. The link to the Genetic Testing Consent Form is provided as a convenience for the providers and genetic counselors.

 

Bone Marrow Transplant Patients; If a patient is the recipient of an allogeneic transplant, this test must be done on a pre-transplant sample. Contact the Molecular Diagnostics lab to see if a pre-transplant sample is available.

 

Associated Links:

Genetic Testing Consent Form



Collection Instructions

Specimen:Blood
Optimal Volume:10 mL
Minimum\Peds Volume:2 mL
Container:Yellow (ACD, Solution A) tube available from laboratory (Purple (EDTA))
Causes for Rejection:Frozen or clotted specimen, incorrect anticoagulant, specimen more than 5 days old. Patients are only tested ONCE; if duplicate sample is collected, testing is canceled, credited and original results and collection date reported. Contact 612-273-8445 with questions. Testing requested on a sample punctured by an automated instrument. Add on testing to hematology samples is not accepted.


Processing and Shipping

Specimen Processing:Store blood at room temperature.
Shipping Instructions:Ship at room temperature.
Test Performed at or Referral Lab Molecular Diagnostics  (UMMC-East Bank)


Interpretive

Reference Range:Results are reported as "present" or "absent" for the mutation. Heterozygosity or Homozygosity is also determined. See interpretive report.
Use:

Detection of the Factor 5 Leiden (R506Q) mutation that has been demonstrated to be a risk factor for inherited thrombophilia.

 



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