Factor 5 Leiden Mutation Analysis

Abbrev Code:F5MD   
Order Code:LAB346Order Name:Factor 5 Leiden Mutation Analysis
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 with restriction digest, detection by gel electrophoresis.
CPT Codes: 81241 x1, G0452 x1
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

Optimal Volume:10 mL
Minimum\Peds Volume:2 mL
Container:Yellow (ACD, Solution A) tube available from laboratory
Alternate Containers: Orocollect Dx Buccal Swabs, Purple (EDTA), Yellow (ACD, Solution B) tube available from laboratory
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.  DNA extracted at non-CLIA certified (or equivalent) lab.

Processing and Shipping

Specimen Processing:Do not process whole blood. Store blood at room temperature.
Shipping Instructions:Ship at room temperature.
Test Performed at or Referral Lab UM Molecular Diagnostics (M)  (UMMC East Bank)


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

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


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