Hemophilia A (F8) 2 Inversions, Fetal
Also known as: F8 INV FE
Use
Hemophilia A is characterized by a deficiency of factor VIII clotting activity, which can lead to severe bleeding disorders. The ARUP test specifically detects F8 gene intron 22-A or intron 1 inversions, which are common causes of severe hemophilia A. This prenatal test is intended to help identify whether a fetus carries these specific genetic inversions known to cause hemophilia A, particularly if there is a family history of the condition. It is a crucial test for expectant parents concerned about the potential inheritance of hemophilia A in their unborn child.
Special Instructions
This test is not approved for New York state and is recommended to be submitted to a New York state-approved laboratory. Counseling and informed consent are recommended for all genetic testing, particularly for New York clients, where informed consent is mandatory. The test requires submission of both fetal and maternal samples and may necessitate additional charges for culturing techniques if minimum specimen confluence is not met.
Limitations
The assay detects only the intron 22-A and intron 1 inversions within the F8 gene. Negative results do not exclude other F8 variants that might cause hemophilia A. Additionally, rare F8 inversions with different breakpoints might not be detected. Diagnostic errors can occur due to rare sequence variations. This test does not detect variants associated with mild or moderate hemophilia A in males.
Methodology
PCR-based
Biomarkers
LOINC Codes
- 59266-7
- 66746-9
- 31208-2
- 82343-5
Result Turnaround Time
9-10 days
Related Documents
For more information, please review the documents below
Specimen
Cultured Cells
Volume
Not provided
Minimum Volume
one T-25 flask at 80 percent confluence
Container
two T-25 flasks at 80 percent confluence
Collection Instructions
Transfer cultured amniocytes or cultured CVS to two T-25 flasks at 80 percent confluence. Backup cultures must be retained at the client's institution until testing is complete.
Patient Preparation
Fetal cultured amniocytes or cultured CVS required.
Storage Instructions
Must be received within 48 hours of collection due to viability of cells.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 2 days |
| Refrigerated | Unacceptable |
| Frozen | Unacceptable |