Hemophilia A F8 Gene, Intron 1 and 22 Inversion Mutation Analysis, Prenatal
Use
Prenatal testing for hemophilia A when a variant has not been identified in the family. This test detects common inversion variants within the F8 gene. Approximately 50% of affected male patients with severe hemophilia A have shown to have these inversions. It is recommended that the F8 inversion variant be confirmed in the affected male patient or obligate female carrier prior to testing at-risk individuals.
Special Instructions
Consultation with the laboratory is required for all prenatal testing; call 800-533-1710 to speak to a genetic counselor. All prenatal specimens must be accompanied by a maternal blood specimen; order MATCC / Maternal Cell Contamination, Molecular Analysis, Varies on the maternal specimen.
Limitations
This assay detects only F8 intron 1 and 22 inversion variants. Thus, a negative result does not exclude the presence of other variants in F8. The intron 1 and 22 inversion variants targeted by this assay are found in approximately 50% of individuals with severe hemophilia A; the assay may be uninformative for a number of families. 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
LOINC Codes
- 82343-5
- 42349-1
- 82343-5
- 69047-9
- 18771-6
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.
Storage Instructions
Ambient (preferred) <24 hours/Refrigerated
Causes for Rejection
Bloody specimens are undesirable.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | <24 hours |
| Refrigerated | <24 hours |