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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 NGS Test

Also known as: HSD17B3 deficiency, Male pseudohermaphroditism type 3, 46,XY disorder of sex development due to 17β-hydroxysteroid dehydrogenase 3 deficiency

HSD17B3 Gene Pseudohermaphroditism with gynecomastia NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next Generation Sequencing) 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 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 3, 2026

Overview

To identify mutations in the HSD17B3 gene for definitive diagnosis of pseudohermaphroditism with gynecomastia, aiding in clinical management, genetic counseling, and family planning.

Test Code
5549
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 (Next Generation Sequencing)
Step 1

Sample Collection

Clinical history of patient and genetic counseling session to draw a pedigree chart of family members affected with HSD17B3 gene mutation.

Method: Venipuncture or FTA card spotting

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or one drop blood on FTA card by trained phlebotomist.

Step 3

Report Delivery

Sample labeled and transported to lab under ambient conditions. Patient can resume normal activities.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical evaluation to assess indications and family history.
2
During the Test:Blood sample collection and DNA extraction for NGS sequencing.
3
After the Test:Report generation and genetic counseling for result interpretation and management planning.

About This Test

Who Should Get This Test

To identify mutations in the HSD17B3 gene for definitive diagnosis of pseudohermaphroditism with gynecomastia, aiding in clinical management, genetic counseling, and family planning.

How to Prepare

  • Provide detailed clinical history
  • Attend genetic counseling session
  • Ensure proper sample labeling
  • Avoid hemolysis during blood draw

Doctor's Notes

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

"This test is essential for accurate diagnosis of disorders of sex development, enabling targeted management and genetic counseling for affected individuals and families."

Last medically reviewed: September 3, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs per requirement
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or FTA card spotting

Sample Stability

Blood samples stable for 48 hours at room temperature
FTA cards stable for extended periods at room temperature
Sample Rejection Criteria:
  • Hemolyzed samples
  • Insufficient sample volume
  • Improper labeling
  • Contaminated samples

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the HSD17B3 gene. Positive results confirm diagnosis, while negative results may require further testing.
📊

Pathogenic variant detected, confirming HSD17B3 deficiency

📊

No pathogenic variants detected; consider other genetic causes

📊

Genetic variant found but clinical significance unknown; genetic counseling recommended

⚠️ When to Consult a Doctor:

If symptoms such as ambiguous genitalia, gynecomastia, or infertility are present, or if there is a family history of disorders of sex development.

Limitations

  • ⚠May not detect all types of mutations (e.g., large deletions)
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minimal risks from blood draw, such as bruising or infection
  • ●No significant risks from genetic testing itself

Interfering Factors

  • ●Poor sample quality
  • ●Contamination during collection
  • ●Insufficient DNA quantity

Frequently Asked Questions

What is HSD17B3 Gene Pseudohermaphroditism?
It is a rare genetic condition caused by mutations in the HSD17B3 gene, leading to impaired testosterone conversion and resulting in ambiguous genitalia and gynecomastia in males.
What are the symptoms of this condition?
Symptoms include ambiguous genitalia at birth, underdeveloped testes, breast tissue growth in males, delayed puberty, and infertility.
How is the NGS genetic test performed?
The test involves sequencing the entire HSD17B3 gene using Next Generation Sequencing technology to identify mutations from a blood or DNA sample.
What is the cost of the HSD17B3 gene test in India?
The test costs INR 20,000 at DNA Labs India, with home sample collection available across India.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings in numerous cities across India.
How long does it take to get the test results?
Results are typically delivered within 3 to 4 weeks after sample collection.
What do the test results indicate?
Results show whether pathogenic variants are present in the HSD17B3 gene, confirming or ruling out the condition.
Is genetic counseling required before the test?
Yes, a genetic counseling session is recommended to draw a pedigree chart and discuss implications before testing.
Can this test be done during pregnancy?
This test is typically for postnatal diagnosis; prenatal testing may require different methods and genetic counseling.
What are the risks associated with the test?
Risks are minimal, primarily related to blood draw, such as bruising or infection; genetic testing itself poses no physical risks.
How accurate is the NGS genetic test?
NGS provides high accuracy for detecting gene mutations, but results should be correlated with clinical findings and genetic counseling.
What should I do after receiving the test results?
Consult a healthcare professional or genetic counselor for interpretation, management options, and family planning advice.
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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