Factor 5 Leiden Mutation Analysis
| Abbrev Code: | F5MD | ||
| Order Code: | LAB346 | Order 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. |
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Collection Instructions
| Specimen: | Blood |
| 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) |
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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