Hemophilia A F8 Gene, Intron 22 Inversion Mutation Analysis, Prenatal
Use
This test is used for prenatal testing for hemophilia A when an F8 intron 22 inversion has been identified in a family member. The intron 22 inversion accounts for approximately 45 percent of variants associated with severe hemophilia A. A known family inversion is required for analysis. Knowledge of familial inversion enables targeted prenatal diagnosis. If the familial inversion is not detected in an affected male or obligate female carrier, further methods such as F8 sequencing may be considered.
Special Instructions
Not provided.
Limitations
Inversion analysis is only valid if the familial intron 22 inversion is known. Absence of this inversion does not rule out other F8 mutations; additional testing like F8 sequencing may be necessary. Reflex testing incurs additional charges. Interpretation depends on quality and type of prenatal specimen and avoidance of maternal cell contamination.
New York Approved
Methodology
PCR-based (PCR)
Biomarkers
F8
Gene
LOINC Codes
- 82343-5 - F8 intron 1+22 Inv Mut Anl Amn/CVS
- 42349-1
- 82343-5 - F8 intron 1+22 Inv Mut Anl Amn/CVS
- 69047-9 - Geneticist review
- 18771-6 - Provider signing name
Result Turnaround Time
28-35 days
Related Documents
For more information, please review the documents below
Specimen
Other
Volume
Not provided
Minimum Volume
5 mg (CVS)