Hereditary Hemorrhagic Telangiectasia (HHT), Prenatal
Use
Testing for a known HHT genetic mutation in a fetus when the mother or father have a confirmed genetic diagnosis of HHT
Special Instructions
Not provided.
Limitations
This test was developed and its performance characteristics were determined by LabCorp. Although it is a valuable diagnostic tool, it has not been cleared or approved by the US Food and Drug Administration (FDA). Consequently, its use and accuracy should be considered in conjunction with clinical assessments and patient history.
Methodology
PCR-based (qPCR)
Biomarkers
ENG, ACVRL1, SMAD4
Gene
LOINC Codes
- 53837-1 - ACVRL1+ENG gene Mut Anl Bld/T
Result Turnaround Time
4-8 days
Related Documents
For more information, please review the documents below
Specimen
Amniotic Fluid
Volume
8.5 mL blood
Minimum Volume
2 mL blood (infant); amniocytes in 2 T25 flask of cultured amniotic cells; CVS volume: as much as possible
Container
Amniocytes in 2 T25 flask of cultured amniotic cells. CVS in sterile tissue/culture medium.
Collection Instructions
Blood samples and amniocytes must be received at Impact Genetics within five days of collection. CVS must be received at Impact Genetics within 48 hours of collection. Do not freeze.
Storage Instructions
Room temperature. Stable at room temperature for seven days.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 7 days |
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