CAH (21‑Hydroxylase Deficiency) Gene Sequencing
Use
This germline genetic test is intended to detect mutations in the CYP21A2 gene associated with congenital adrenal hyperplasia due to 21‑hydroxylase deficiency, facilitating confirmation of diagnosis, carrier evaluation, and assessment in family members and prenatal settings.
Special Instructions
If ordering from certain states (AK, DE, FL, GA, IA, MA, MN, NV, NJ, NY, OR, SD, VT) or when performed in MA, physician attestation of informed consent is required. Additional charges (e.g., CPT code 88235) may apply for cell culture work if amniotic fluid or chorionic villi samples are received and 88235 is not already ordered.
Limitations
Sequencing may not detect all types of mutations; copy‐number variants may require orthogonal confirmation. Detection rates for sequencing are >95%, but common variant panels detect 90–95%.
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 30005-3
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
5 mL
Minimum Volume
3 mL
Container
EDTA (lavender‑top) tube, lithium heparin (green‑top) tube or ACD solution A (yellow‑top) tube