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CYP11A1 Gene Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete NGS Genetic Test

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CYP11A1 Gene Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete NGS Genetic Test

Short Name: CYP11A1 Gene NGS Test

CYP11A1 Gene Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 weeks. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

🩺 Medically Reviewed By

Overview

To diagnose CYP11A1 gene mutations causing congenital adrenal insufficiency and 46XY sex reversal for appropriate medical management.

Test Code
5361
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

Genetic counseling and clinical history review are recommended prior to testing.

Method: Blood Collection

Step 2

Laboratory Analysis

Blood sample will be collected via venipuncture or using an FTA card for a blood drop.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review.
2
During the Test:Sample collection and NGS analysis.
3
After the Test:Report generation and genetic counseling session.

About This Test

Who Should Get This Test

To diagnose CYP11A1 gene mutations causing congenital adrenal insufficiency and 46XY sex reversal for appropriate medical management.

How to Prepare

  • Provide clinical history of the patient
  • Attend a genetic counseling session to draw a pedigree chart
  • No fasting required for sample collection

Doctor's Notes

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

"Early genetic testing for CYP11A1 mutations can guide treatment and management of adrenal insufficiency and sex reversal conditions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodBlood Collection

Understanding Your Results

Results indicate the presence or absence of mutations in the CYP11A1 gene. Consult a geneticist for detailed interpretation.
Positive result: Pathogenic mutation detected, indicating genetic cause for adrenal insufficiency and sex reversal.
Negative result: No pathogenic variants detected, but clinical correlation is advised.
Variant of uncertain significance: Further testing or family studies may be recommended.
⚠️ When to Consult a Doctor:

If symptoms of adrenal insufficiency are present, for genetic counseling, or if results indicate a mutation.

Risks & Considerations

  • Minimal risk from blood draw, such as bruising or infection

Frequently Asked Questions

What is the CYP11A1 Gene Adrenal Insufficiency NGS Test?
It is a genetic test using Next-Generation Sequencing to detect mutations in the CYP11A1 gene, which causes congenital adrenal insufficiency and 46XY sex reversal.
Who should consider this test?
Individuals with symptoms of adrenal insufficiency, family history of the condition, ambiguous genitalia, or delayed puberty.
What are the symptoms of CYP11A1-related adrenal insufficiency?
Symptoms include fatigue, weight loss, nausea, dizziness, low blood pressure, increased skin pigmentation, and delayed sexual development.
How is the test performed?
A blood sample or DNA extract is analyzed using NGS technology to identify mutations in the CYP11A1 gene.
What is the cost of the test?
The test costs INR 20,000, with free home sample collection available across India.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings in numerous cities across India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What does a positive result mean?
A positive result indicates a pathogenic mutation in the CYP11A1 gene, confirming a genetic basis for the condition.
Is genetic counseling provided?
Yes, genetic counseling is included to help interpret results and discuss management options.
Are there any risks associated with the test?
The test involves minimal risks, such as slight bruising from blood draw, but is generally safe.
Is the test covered by insurance?
Some insurance plans may cover genetic testing, but coverage varies. Check with your provider.
How accurate is the NGS testing?
NGS is highly accurate for detecting gene mutations, but results should be correlated with clinical findings.
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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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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