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AKR1C4 Gene 46,XY sex reversal type 8, modifier of NGS Genetic Test

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AKR1C4 Gene 46,XY sex reversal type 8, modifier of NGS Genetic Test

AKR1C4 Gene 46,XY sex reversal type 8, modifier of NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS on Blood samples. Results in 3 to 4 Weeks. Free home collection in 300+ cities across India.

Genetic TestFemale🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To diagnose 46,XY sex reversal type 8 by analyzing mutations in the AKR1C4 gene using NGS technology, aiding in clinical management and genetic counseling.

Test Code
5519
Price
₹20,000
Sample Type
Blood
Result Time
3 to 4 Weeks
Fasting Required
No
Method
NGS
Step 1

Sample Collection

Provide clinical history and undergo genetic counseling as per pre-test information.

Step 2

Laboratory Analysis

Blood sample collection via venipuncture.

Step 3

Report Delivery

Apply pressure to the puncture site and avoid strenuous activity.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Provide clinical history and undergo genetic counseling as per pre-test information.
2
During the Test:Blood sample collection via venipuncture.
3
After the Test:Apply pressure to the puncture site and avoid strenuous activity.

About This Test

Who Should Get This Test

To diagnose 46,XY sex reversal type 8 by analyzing mutations in the AKR1C4 gene using NGS technology, aiding in clinical management and genetic counseling.

How to Prepare

  • Complete clinical history form
  • Attend genetic counseling session for pedigree chart
  • Ensure proper identification and consent

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood

Understanding Your Results

Results indicate the presence or absence of mutations in the AKR1C4 gene associated with 46,XY sex reversal type 8.
Positive: Pathogenic variant detected, confirming diagnosis
Negative: No pathogenic variants detected, reducing likelihood
Variant of uncertain significance: Requires further evaluation and genetic counseling
⚠️ When to Consult a Doctor:

If symptoms of sex reversal are present, for family planning advice, or upon receiving test results for interpretation and management.

Risks & Considerations

  • ●Minimal risk from blood draw: bruising, infection
  • ●Psychological impact of results
  • ●Potential for variants of uncertain significance requiring further testing

Frequently Asked Questions

What is the AKR1C4 gene test?
It is an NGS genetic test to detect mutations in the AKR1C4 gene associated with 46,XY sex reversal type 8.
Who should take this test?
Individuals with symptoms like female genitalia and XY chromosomes, undescended testes, infertility, or a family history of sex reversal disorders.
How is the test performed?
A blood sample is collected and analyzed using Next-Generation Sequencing (NGS) technology to sequence the AKR1C4 gene.
What is the cost of the test?
The test costs INR 20,000 at DNA Labs India, with home sample collection available.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings across many cities in India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks.
What do the results mean?
Results indicate if pathogenic variants are detected, which can confirm diagnosis, or if no variants are found, reducing likelihood.
Is genetic counseling required?
Yes, genetic counseling is recommended before and after testing to understand implications and inheritance.
What are the risks of the test?
Risks are minimal, including bruising from blood draw and potential psychological impact of results.
Can this test be used for prenatal diagnosis?
This test is typically for postnatal diagnosis; consult a genetic counselor for prenatal options.
How accurate is the NGS genetic test?
NGS is highly accurate for detecting gene mutations, but accuracy depends on sample quality and bioinformatics analysis.
What should I do if the test is positive?
Consult a healthcare provider for management options, which may include hormone therapy, surgery, and ongoing genetic counseling.
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.

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