Hemophilia A F8 Gene, Intron 1 Inversion Known Mutation, Blood
Use
This test is used for first-tier molecular testing for male patients affected with severe hemophilia A, particularly when a familial intron 1 inversion has been previously identified. It is also utilized for determining hemophilia A carrier status among at-risk female patients, such as those with a family history of severe hemophilia A due to F8 intron 1 inversion. The test detects the intron 1 inversion in the F8 gene, which accounts for approximately 5% of the variants associated with severe hemophilia A.
Special Instructions
Not provided.
Limitations
This assay detects only the F8 intron 1 inversion variant, thus a negative result does not exclude the presence of other variants in F8. The intron 1 inversion variant targeted by this assay is found in approximately 5% of individuals with severe hemophilia A; if an intron 1 inversion has not already been identified in the family, the assay may be uninformative.
New York Approved
Methodology
PCR-based (PCR)
Biomarkers
No genes
Gene
LOINC Codes
- 81762-7 - F8 intron 1 Inv Mut Anl Bld/T
- 42349-1
- 81762-7 - F8 intron 1 Inv Mut Anl Bld/T
- 69047-9 - Geneticist review
- 18771-6 - Provider signing name
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
4 mL
Minimum Volume
1 mL
Container
Lavender top (EDTA); Acceptable: Yellow top (ACD) or blue top (3.2% sodium citrate)
Collection Instructions
Invert several times to mix blood. Send whole blood specimen in original tube. Do not aliquot.
Patient Preparation
A previous bone marrow transplant from an allogeneic donor will interfere with testing.
Causes for Rejection
Gross hemolysis, Gross lipemia
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 7 days |
| Refrigerated | 7 days |
| Frozen | 7 days |