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HSD17B3 Gene Pseudohermaphroditism with gynecomastia NGS Genetic Test

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HSD17B3 Gene Pseudohermaphroditism with gynecomastia NGS Genetic Test

Short Name: HSD17B3 Pseudohermaphroditism Test

Also known as: HSD17B3 deficiency, 17-beta-hydroxysteroid dehydrogenase 3 deficiency

HSD17B3 Gene Pseudohermaphroditism with gynecomastia 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 from sample receipt. Free home collection in 300+ cities across India.

NGS Genetic TestMaleAll 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 HSD17B3 gene associated with pseudohermaphroditism and gynecomastia for diagnosis, management, and genetic counseling.

Test Code
2223
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks from sample receipt
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

A clinical history of the patient and a genetic counseling session to draw a pedigree chart of affected family members are required.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collected via venipuncture from a vein in the arm.

Step 3

Report Delivery

Sample is labeled and sent to the laboratory for DNA extraction and NGS analysis.

Timeline: 3 to 4 weeks from sample receipt

Patient Instructions

1
Before the Test:Genetic counseling session recommended to discuss test implications, family history, and expected outcomes.
2
During the Test:Sample undergoes DNA extraction and Next Generation Sequencing (NGS) analysis for HSD17B3 gene variants.
3
After the Test:Report generation, including clinical interpretation and raw data files, followed by consultation with a genetic counselor or physician.

About This Test

Who Should Get This Test

To detect mutations in the HSD17B3 gene associated with pseudohermaphroditism and gynecomastia for diagnosis, management, and genetic counseling.

How to Prepare

  • Ensure proper sample labeling with patient details
  • Follow aseptic techniques to avoid contamination
  • Use recommended sample containers

Doctor's Notes

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

"Early diagnosis of HSD17B3 mutations is crucial for managing pseudohermaphroditism and preventing associated health issues, allowing for timely intervention and genetic counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs per lab requirements
ContainerEDTA Tube or FTA Card
Collection MethodVenipuncture

Sample Stability

Blood sample stable for 48 hours at room temperature
Extracted DNA stable for up to 1 week at 4°C
Sample Rejection Criteria:
  • Hemolyzed or lipemic sample
  • Insufficient sample volume
  • Improperly labeled sample

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the HSD17B3 gene, which are associated with pseudohermaphroditism and gynecomastia.
Positive Result: Pathogenic variant detected, indicating a genetic cause for the condition; further clinical management and genetic counseling recommended.
Negative Result: No pathogenic variants detected, but clinical correlation advised; other causes may be explored.
Variant of Uncertain Significance: A genetic change with unknown clinical impact; consider repeat testing or additional studies.
⚠️ When to Consult a Doctor:

Consult a doctor if symptoms such as ambiguous genitalia, gynecomastia, or infertility are present, or for family planning if there is a family history of the condition.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Results require clinical correlation
  • ⚠Variant of uncertain significance may occur

Risks & Considerations

  • ●Minor bruising or pain at blood draw site
  • ●Rare risk of infection
  • ●Emotional impact of genetic results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality

Compare With Similar Tests

TestHSD17B3 Gene Pseudohermaphroditism with gynecomastia NGS Genetic TestWhole Exome SequencingHormone Panel TestKaryotype Analysis
ComparisonHSD17B3 Gene Pseudohermaphroditism with gynecomastia NGS Genetic Test

Frequently Asked Questions

What is HSD17B3 gene pseudohermaphroditism?
It is a genetic condition caused by mutations in the HSD17B3 gene, leading to impaired testosterone synthesis and resulting in male pseudohermaphroditism with symptoms like ambiguous genitalia and gynecomastia.
What are the common symptoms of this condition?
Symptoms include ambiguous genitalia at birth, hypospadias, gynecomastia, undescended testicles, and infertility, varying in severity.
How is the condition diagnosed?
Diagnosis involves physical examination, genetic testing via NGS for HSD17B3 mutations, hormone testing, and imaging studies such as ultrasound or MRI.
What is the cost of the HSD17B3 NGS genetic test in India?
The cost is INR 20000, with free home sample collection available across India.
Is the test covered by insurance?
The test may not be covered by insurance and often requires out-of-pocket payment; check with your insurance provider.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks from sample receipt.
What sample is required for the test?
The test can be performed on blood, extracted DNA, or one drop of blood on an FTA card.
Can the test be done at home?
Yes, DNA Labs India offers free home sample collection for online bookings.
What is the accuracy of the NGS genetic test?
NGS technology provides high accuracy in detecting genetic variants, but results should be correlated with clinical findings.
What happens if the test is positive?
A positive result indicates a pathogenic variant, prompting further medical management, genetic counseling, and possible treatment options like hormone therapy.
Are there any risks associated with the test?
Risks are minimal and similar to a standard blood draw, including bruising or infection at the needle site.
How can I prepare for the genetic counseling session?
Prepare by gathering family medical history, listing symptoms, and writing down questions to discuss with the counselor.
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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