Hemophilia A (F8) 2 Inversions, Fetal

Also known as: F8 INV FE

Clinical Use

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

Not provided.

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.

Test Details

Methodology

PCR-based

Biomarkers

F8

Gene

Intron 22-A inversion

Mutation • Categorical (e.g., Positive / Negative / Indeterminate)

Intron 1 inversion

Mutation • Categorical (e.g., Positive / Negative / Indeterminate)

LOINC Codes

Result Codes

59266-7 - Maternal Cell Contam Spec
66746-9 - Specimen type
31208-2 - Specimen source
82343-5 - F8 intron 1+22 Inv Mut Anl Amn/CVS

Result Turnaround Time

9-10 days

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.