Hemophilia A F8 Gene, Intron 1 and 22 Inversion Mutation Analysis, Blood
Use
This test is primarily useful for identifying common inversion variants within the F8 gene associated with severe hemophilia A. Approximately 50% of affected male patients with severe hemophilia A present these inversions, while it is used for determining carrier status among at-risk females with a family history of severe hemophilia A. It serves as the first-tier molecular testing for male patients with severe hemophilia A when a familial variant has not been identified.
Special Instructions
Not provided.
Limitations
This assay is designed to detect only F8 intron 1 and 22 inversion variants, thus a negative outcome does not rule out other F8 variants. Additionally, this test may not be informative for a fraction of families due to its specificity toward certain inversion variants present in only about 50% of individuals with severe hemophilia A. Any results should be interpreted alongside other clinical data, family history, and laboratory results.
New York Approved
Methodology
PCR-based (PCR)
Biomarkers
LOINC Codes
- 81761-9 - F8 intron 1+22 Inv Mut Anl Bld/T
- 42349-1
- 81761-9 - F8 intron 1+22 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.
Patient Preparation
A previous bone marrow transplant from an allogeneic donor will interfere with testing.
Causes for Rejection
Specimens with gross hemolysis or lipemia are acceptable.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 7 days |
| Refrigerated | 7 days |
| Frozen | 7 days |