CYP21A2 Whole Gene Duplication Test
Use
The CYP21A2 Whole Gene Duplication Test is designed for family members of patients who have tested positive for a whole CYP21A2 duplication. It is also suitable for individuals whose previous genetic testing, including NGS-based CNV analysis, suggests a whole CYP21A2 duplication but requires confirmation through an orthogonal method, especially if they also have the pseudogene-derived pathogenic variant c.955C>T (p.Gln319*). Additionally, this test is for individuals found with the c.955C>T variant and another pathogenic variant but not clinically affected by congenital adrenal hyperplasia, as well as fetuses whose father carries a whole CYP21A2 duplication and a sequence variant of interest.
Special Instructions
Not provided.
Limitations
The CYP21A2 Whole Gene Duplication Test may not detect all pathogenic variants or duplications relevant to congenital adrenal hyperplasia. It is critical that positive results be confirmed with a healthcare provider. False negatives may occur, particularly if the duplication is not large enough to be detected by the assay.
Methodology
PCR-based (PCR)
Biomarkers
CYP21A2
Gene
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided