Hemophilia A F8 Gene, Intron 1 Inversion Known Mutation Analysis, Prenatal
Use
Prenatal testing for hemophilia A when an F8 intron 1 inversion has been identified in a family member. This test detects the intron 1 inversion in the F8 gene, which accounts for approximately 5% of variants associated with severe hemophilia A. It is recommended that the F8 variant be confirmed in the affected male patient or obligate female carrier prior to testing at-risk individuals.
Special Instructions
Not provided.
Limitations
This assay detects only the F8 intron 1 inversion variant. A negative result does not exclude the presence of other variants in F8. The intron 1 inversion variant targeted by this assay is found in approximately 5% of individuals with severe hemophilia A; if an intron 1 inversion has not been already identified in the family, the assay may be uninformative. Test results should be interpreted in the context of clinical findings, family history, and other laboratory data.
New York Approved
Methodology
PCR-based (PCR)
Biomarkers
F8
Gene
LOINC Codes
- 82342-7 - F8 intron 1 Inv Mut Anl Amn/CVS
- 42349-1
- 82342-7 - F8 intron 1 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
Amniotic Fluid
Volume
5-10 mL
Minimum Volume
Not provided
Container
Amniotic fluid container
Collection Instructions
Optimal timing for specimen collection is during 14 to 18 weeks of gestation, but specimens collected at other weeks of gestation are also accepted. Discard the first 2 mL of amniotic fluid. If culture will be performed in conjunction with chromosome analysis and alpha-fetoprotein, a total of approximately 25 to 30 mL will be needed for the combined studies.
Causes for Rejection
Bloody specimens are undesirable. If the specimen does not grow in culture, you will be notified within 7 days of receipt.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | <24 hours |
| Refrigerated | <24 hours |