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CYP21A2 Gene Adrenal hyperplasia due to 21-hydroxylase deficiency NGS Genetic Test

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CYP21A2 Gene Adrenal hyperplasia due to 21-hydroxylase deficiency NGS Genetic Test

Short Name: CYP21A2 NGS Genetic Test

Also known as: 21-Hydroxylase Deficiency Genetic Test, CYP21A2 Mutation Analysis, Congenital Adrenal Hyperplasia Test

CYP21A2 Gene Adrenal hyperplasia due to 21-hydroxylase deficiency NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood, Extracted DNA, FTA Card samples. Results in 3 to 4 weeks. Free home collection in 300+ cities across India.

Next-Generation Sequencing (NGS)All Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To detect mutations in the CYP21A2 gene for the diagnosis of adrenal hyperplasia due to 21-hydroxylase deficiency, aiding in clinical management and genetic counseling.

Test Code
1883
Price
₹20,000
Sample Type
Blood, Extracted DNA, FTA Card
Result Time
3 to 4 weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Schedule a genetic counseling session to discuss family history and test implications.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein in your arm by a trained phlebotomist.

Step 3

Report Delivery

Apply pressure to the puncture site to stop bleeding. Sample will be transported to the laboratory for analysis.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Consult with a genetic counselor and provide clinical history for accurate interpretation.
2
During the Test:Blood sample collection procedure as per standard protocols.
3
After the Test:Results will be available in 3-4 weeks, delivered via online portal, email, or WhatsApp.

About This Test

Who Should Get This Test

To detect mutations in the CYP21A2 gene for the diagnosis of adrenal hyperplasia due to 21-hydroxylase deficiency, aiding in clinical management and genetic counseling.

How to Prepare

  • Avoid hemolysis by gentle handling of sample
  • Label sample accurately with patient details
  • Ensure proper storage if not collected at home

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Early genetic diagnosis of CYP21A2 mutations is crucial for managing adrenal hyperplasia and preventing complications such as growth abnormalities and infertility."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood, Extracted DNA, FTA Card
Sample Volume5 mL blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture

Sample Stability

Room temperature
2-8°C
-20°C
Sample Rejection Criteria:
  • Insufficient sample volume
  • Hemolyzed sample
  • Incorrect sample type
  • Lack of proper identification

Understanding Your Results

Results are interpreted based on the presence or absence of pathogenic variants in the CYP21A2 gene.
📊

Normal

No pathogenic variants detected; low risk for 21-hydroxylase deficiency

📊

Carrier

One pathogenic variant detected; carrier status for autosomal recessive disorder

📊

Affected

Two pathogenic variants detected; diagnosis of adrenal hyperplasia due to 21-hydroxylase deficiency

⚠️ When to Consult a Doctor:

If you experience symptoms such as ambiguous genitalia, early puberty, or if you have a family history of adrenal hyperplasia. Consult for genetic counseling and treatment planning.

Limitations

  • ⚠May not detect all rare mutations
  • ⚠Requires clinical correlation
  • ⚠Not a standalone diagnostic tool without hormonal tests

Risks & Considerations

  • ●Minor bruising at puncture site
  • ●Rare infection risk
  • ●Discomfort during blood draw

Interfering Factors

  • ●Contaminated sample
  • ●Degraded DNA
  • ●Hemolyzed blood sample

Compare With Similar Tests

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ComparisonCYP21A2 Gene Adrenal hyperplasia due to 21-hydroxylase deficiency NGS Genetic Test

Frequently Asked Questions

What is the CYP21A2 Gene Test?
It is a genetic test that analyzes the CYP21A2 gene to detect mutations causing 21-hydroxylase deficiency, leading to adrenal hyperplasia.
Why should I get this test?
To diagnose adrenal hyperplasia, understand carrier status, guide treatment, and for family planning purposes.
How is the sample collected?
A blood sample is drawn from a vein, or extracted DNA or a blood drop on an FTA card can be used.
Is fasting required before the test?
No, fasting is not typically required for this genetic test.
What are the risks involved?
Risks are minimal and include bruising or discomfort at the blood draw site, with rare infection risk.
How long does it take to get results?
Results are typically available within 3 to 4 weeks.
Can this test determine if I am a carrier?
Yes, the test can identify carrier status by detecting one pathogenic variant in the CYP21A2 gene.
Do I need genetic counseling?
Genetic counseling is recommended before and after testing to interpret results and discuss implications for family planning.
What if the test shows a mutation?
Consult with an endocrinologist or geneticist for management, which may include hormone replacement therapy and monitoring.
Is the test covered by insurance?
Coverage depends on your insurance plan. Check with your provider for eligibility; many private plans may cover it.
Can I collect the sample at home?
Yes, free home sample collection is available for online bookings in many cities across India.
How accurate is the test?
The test uses advanced NGS technology with high accuracy, but results should be correlated with clinical findings and other diagnostic tests.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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For Hospitals & Clinics

Reference Laboratory Services

We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.

LIMS Integration

Your Data Privacy

Your medical data is protected under Indian law.

✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

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