Casandra
Casandra Test Code QD20569Version 1 (DRAFT)
Performing Lab
CAH (21‑Hydroxylase Deficiency) Gene Sequencing
Clinical Use
Order TestUse
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
Not provided.
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%.
Test Details
Methodology
NGS (Targeted)
Biomarkers
CYP21A2
GeneSNV/Indel
Mutation • Categorical (e.g., Positive / Negative / Indeterminate)
LOINC Codes
Order Codes
- 30005-3 - CYP21A2 Mut Anl Bld/T
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen Requirements
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
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