- Transaction code: 3250-05
- CPT codes (suggested): 83890, 83900 (x2), 83901 (x11), 83892, 83894 (x3), 83912
In severe hemophilia A, a common recurrent intron 22 gene inversion accounts for ~45% of the cases. A recurrent intron 1 inversion accounts for ~5% of the cases. These two sites are the first to be screened for severe hemophilia A patients.
Evaluation of Introns 1 and 22 are performed using PCR-SSP analysis by standard PCR and long range PCR, respectively. Confirmation for the intron 22 inversion will be performed using inverse PCR. For intron 1 inversions, confirmation will be performed by repeating the test with the same method.
If the mutation is not identified, further screening can be performed by DNA Hemophilia A Mutation Evaluation testing information.
- Turnaround time: FVIII inversion testing takes 1-2 weeks.
- Sample Requirements: 5-10mL whole blood drawn in EDTA and shipped at 4°C or ambient temperature is acceptable. Refer to the sample requirements page for more information on shipping.
- Analysis of amniocytes can be performed on cultured amniocytes. Two T-25 flasks of cells cultured to confluency will be accepted. Puget Sound Blood Center does not have facilities to culture amniocytes.
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