CAH (21‑Hydroxylase Deficiency) Common Mutations, Fetal Cells
Also known as: CYP21 Common Mutations, CYP21A2 Common Mutations
Use
Detects the presence or absence of 11 common pathogenic mutations in the CYP21A2 gene associated with 21‑hydroxylase deficient congenital adrenal hyperplasia (CAH) in a fetus. Parental variants must be known and provided prior to or at the time of fetal specimen submission; concurrent parental testing is strongly recommended to interpret fetal results properly.
Special Instructions
Requires physician attestation of informed consent where applicable by state law; parental carrier status documentation must be provided; please call Quest GeneInfo or genetic counselor prior to submission for test coordination.
Limitations
This assay is a targeted panel of the most common mutations; it does not sequence the full CYP21A2 gene. Full gene sequencing is available via separate test. Mutational nomenclature may vary between laboratories. The assay has been validated under CLIA and is lab‑developed; it is not FDA‑cleared or approved.
Methodology
PCR-based (PCR)
Biomarkers
LOINC Codes
- 30005-3
Result Turnaround Time
7-14 days
Related Documents
For more information, please review the documents below
Specimen
Amniotic Fluid
Volume
10 mL amniotic fluid
Minimum Volume
10 mL
Container
sterile plastic leak‑proof container
Collection Instructions
Normal collection procedure for amniotic fluid; do not hold specimen; forward to laboratory immediately; store and ship at room temperature; do not refrigerate or freeze.
Storage Instructions
Store and ship at room temperature immediately; do not refrigerate or freeze.