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
Not provided.
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 - F8 intron 1+22 Inv Mut Anl Amn/CVS
- 66746-9 - Specimen type
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 |
Other tests from different labs that may be relevant