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CYP17A1 Gene 17-hydroxylation activity deficiency NGS Genetic Test

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CYP17A1 Gene 17-hydroxylation activity deficiency NGS Genetic Test

Short Name: CYP17A1 NGS Genetic Test

Also known as: CYP17A1 deficiency, 17-hydroxylase deficiency

CYP17A1 Gene 17-hydroxylation activity deficiency NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood, Extracted DNA, or FTA Card samples. Results in 3 to 4 Weeks. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 Home Collection

🩺 Medically Reviewed By

Overview

To identify mutations in the CYP17A1 gene that cause 17-hydroxylation activity deficiency, aiding in diagnosis and management of related hormonal disorders.

Test Code
4612
Price
₹20,000
Sample Type
Blood, Extracted DNA, or FTA Card
Result Time
3 to 4 Weeks
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

Provide clinical history and undergo genetic counseling.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample will be drawn by a trained phlebotomist.

Step 3

Report Delivery

Apply pressure to the puncture site to stop bleeding.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Undergo genetic counseling and provide clinical history.
2
During the Test:Blood sample collection.
3
After the Test:Wait for report and consult with physician.

About This Test

Who Should Get This Test

To identify mutations in the CYP17A1 gene that cause 17-hydroxylation activity deficiency, aiding in diagnosis and management of related hormonal disorders.

How to Prepare

  • Ensure genetic counseling session is completed
  • Provide detailed family history

Doctor's Notes

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

"This genetic test is essential for identifying the root cause of hormonal imbalances, allowing for personalized treatment plans and genetic counseling for families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood, Extracted DNA, or FTA Card
Collection MethodVenipuncture

Sample Stability

Blood: 24 hours at room temperature
Extracted DNA: Stable for longer periods
Sample Rejection Criteria:
  • Insufficient sample volume
  • Contaminated sample
  • Improper storage

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the CYP17A1 gene.
Positive: Pathogenic variant detected, indicating deficiency
Negative: No pathogenic variants detected
Variant of uncertain significance: Requires further testing
⚠️ When to Consult a Doctor:

If symptoms of hormonal imbalance are present or if family history suggests CYP17A1 deficiency.

Limitations

  • May not detect all mutations
  • Requires genetic counseling for interpretation

Risks & Considerations

  • Minor bruising at puncture site
  • Rare infection risk

Interfering Factors

  • Sample contamination
  • Degraded DNA

Compare With Similar Tests

TestCYP17A1 Gene 17-hydroxylation activity deficiency NGS Genetic TestHormone Panel Test
ComparisonCYP17A1 Gene 17-hydroxylation activity deficiency NGS Genetic TestMeasures hormone levels directly, while this test identifies genetic mutations

Frequently Asked Questions

What is CYP17A1 Gene 17-hydroxylation Activity Deficiency?
It is a genetic condition caused by mutations in the CYP17A1 gene, leading to impaired production of androgens and cortisol, resulting in hormonal disorders.
What are the symptoms of this deficiency?
Symptoms include delayed puberty, infertility, irregular menstrual periods, excess hair growth in women, early puberty in boys, short stature, obesity, high blood pressure, and diabetes.
How is this condition diagnosed?
Diagnosis involves clinical evaluation, hormone testing to check for low androgen and cortisol levels, and genetic testing to identify mutations in the CYP17A1 gene.
What does the NGS Genetic Test involve?
The test uses next-generation sequencing technology to analyze the CYP17A1 gene for mutations, providing high accuracy in detecting even rare variants.
What is the cost of the test?
The cost is INR 20,000, which includes the test, genetic counseling, and support services.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test across India.
How long does it take to get the results?
Reports are typically delivered in 3 to 4 weeks via online portal, email, or WhatsApp.
What should I do before the test?
You should provide your clinical history and undergo a genetic counseling session to draw a family pedigree chart.
Are there any risks associated with the test?
Risks are minimal and may include minor bruising at the blood draw site or rare infection risk.
How accurate is the NGS Genetic Test?
The test is highly accurate due to NGS technology, but it may not detect all possible mutations, and genetic counseling is recommended for interpretation.
Can this test be used for prenatal diagnosis?
This test is typically for postnatal diagnosis; prenatal testing may require different methods and should be discussed with a genetic counselor.
What treatment options are available after diagnosis?
Treatment may include hormone replacement therapy and management of symptoms, guided by an endocrinologist or genetic specialist.
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

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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.

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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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