Hemophilia A (F8) 2 Inversions
Also known as: F8 INV
Use
This test is used to identify causal F8 gene intron 22A or intron 1 variant in individuals with established severe hemophilia A and to determine carrier status in those with relatives with a known inversion of intron 1 or 22A. It is particularly important for patients with severe hemophilia A, with reflex options available for sequencing and deletion/duplication testing. The prevalence of hemophilia A is 1 in 5,000 live male births worldwide, usually inherited as an X-linked recessive disorder.
Special Instructions
It is recommended that counseling and informed consent are provided for genetic testing, particularly for New York clients who require consent submission. Genetic consultation is also recommended for interpreting results and advising at-risk family members.
Limitations
This assay does not detect F8 variants associated with mild or moderate hemophilia A in males or F8 variants other than the F8 type 1 or type 2 intron 22-A and intron 1 inversions. Rare inversions with different breakpoints may not be detected, and diagnostic errors can occur due to rare sequence variations. A negative result does not exclude a diagnosis or carrier status of hemophilia A.
New York Approved
Methodology
PCR-based (Inverse PCR)
Biomarkers
LOINC Codes
- 82343-5
- 66746-9
Result Turnaround Time
7-14 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
2 mL
Minimum Volume
1 mL
Container
Lavender (EDTA), pink (K2EDTA), or yellow (ACD solution A or B)
Storage Instructions
Preferred transport temp: Refrigerated. Ambient is also acceptable.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 1 week |
| Refrigerated | 1 month |
| Frozen | Unacceptable |