Price:
Rs. 12,600.00
Sample Type: EDTA Blood
Fasting Not Required
Notes: G0102
Frequently Asked Questions (FAQ's):
What does the CYP21A2 Mutation Detection test identify?
It detects specific pathogenic mutations in the CYP21A2 gene linked to 21-hydroxylase deficiency using precise molecular analysis at Metropolis Healthcare.
Who should consider this test?
Newborns, children, or individuals with hormonal imbalance, salt-wasting crises, ambiguous genitalia, or a family history of congenital adrenal hyperplasia.
What sample is required for testing?
EDTA whole blood is needed for DNA extraction and mutation analysis.
How does Metropolis Healthcare perform this test?
Metropolis Healthcare uses advanced molecular techniques, including PCR and sequencing, for accurate mutation detection in CYP21A2.
Can this test guide treatment decisions?
Yes, identifying the mutation helps in planning hormone replacement therapy and monitoring disease severity.
Is this test useful for carrier screening?
Yes, it can identify carriers and assist families in understanding inheritance risks.
How long do results take?
Results are typically available within a few working days depending on laboratory workflow at Metropolis Healthcare.
Is genetic counselling recommended?
Yes, counselling helps families understand the implications of the mutation, recurrence risk, and prenatal planning