CONGENITAL ADRENAL HYPERPLASIA CYP21A2 (21-0H) GENE PANEL BY NGS, EDTA BLOOD

image not found

NABL Cap Accredited    
The Congenital Adrenal Hyperplasia CYP21A2 (21-OH) Gene Panel by NGS from Metropolis Healthcare analyzes the CYP21A2 gene to detect mutations causing 21-hydroxylase deficiency, the most common form of congenital adrenal hyperplasia (CAH). This disorder affects cortisol and aldosterone synthesis, leading to hormonal imbalances, ambiguous genitalia in females, and salt-wasting crises. The test is performed on an EDTA blood sample using advanced NGS for precise mutation detection. Metropolis Healthcare provides accurate results to guide early diagnosis, hormone management, and genetic counselling

  • 17 Crores+ Samples Processed
  • World Class Technology Labs
  • 25+ Years of Trust & Experience
  • Free Home Collection

Price: Rs. 22,050.00

Sample Type: EDTA BLOOD

Fasting Not Required


Notes: G0103

Frequently Asked Questions (FAQ's):

What does the CYP21A2 Gene Panel test detect?
It identifies pathogenic variants in the CYP21A2 gene associated with 21-hydroxylase deficiency using NGS at Metropolis Healthcare.

Who should consider this test?
Newborns or children with ambiguous genitalia, electrolyte imbalances, or a family history of congenital adrenal hyperplasia.

What sample is required for this test?
EDTA blood is used for DNA extraction and sequencing.

How does Metropolis Healthcare perform this test?
Metropolis uses high-coverage NGS technology to accurately detect deletions, point mutations, and complex variants in CYP21A2.

Can this test guide treatment decisions?
Yes, identifying the mutation helps tailor hormone replacement therapy and monitor disease severity.

Is this test useful for carrier screening?
Yes, it can identify carriers in families planning pregnancies.

How long does it take to get results?
Results are typically available within a few working days depending on lab workflow at Metropolis Healthcare.

Is genetic counselling recommended?
Yes, counselling helps families understand inheritance patterns, recurrence risks, and prenatal planning options

OUR corporates PARTNER

Feedback

Patient's Testimonials

Trusted by Thousands

OUR Accreditations

OUR Lab