Prenatal Known Familial Mutation (includes MCC)
Use
This test is intended to confirm the presence or absence of a specific familial mutation in a prenatal setting, including maternal cell contamination (MCC) studies to ensure accuracy. It enables providers to inform reproductive decision-making by diagnosing or ruling out a known familial variant in prenatal samples.
Special Instructions
Includes maternal cell contamination (MCC) analysis. A maternal specimen (blood or buccal) is required to conduct MCC studies. Specimens accepted include amniotic fluid, chorionic villi, cultured cells, or extracted DNA, along with maternal sample. Use appropriate form to order and ship according to requirements.
Limitations
Only confirms a previously identified familial mutation. Does not perform broad sequencing or test for other variants. Accuracy depends on quality of specimen and effective contamination studies. Negative findings may require positive control to confirm true negativity; MCC must be acceptable to interpret fetal result.
Methodology
PCR-based (PCR)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Amniotic Fluid
Volume
Not provided
Minimum Volume
Not provided
Collection Instructions
Amniotic fluid sample