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DHH Gene 46,XY Gonadal Dysgenesis, Partial, with Minifascicular Neuropathy NGS Genetic Test

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DHH Gene 46,XY Gonadal Dysgenesis, Partial, with Minifascicular Neuropathy NGS Genetic Test

DHH Gene 46,XY Gonadal Dysgenesis, Partial, with Minifascicular Neuropathy NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) 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 TestMale🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

The purpose of this test is to confirm the diagnosis of 46,XY gonadal dysgenesis, partial, with minifascicular neuropathy by identifying pathogenic variants in the DHH gene. It aids in genetic counseling, family planning, and targeted treatment strategies for affected individuals.

Test Code
1496
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
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No specific preparation required. Inform the doctor about any medications, health conditions, or family history.

Method: Venipuncture or Finger prick for FTA Card

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein in the arm or via a finger prick for FTA card, following standard phlebotomy procedures.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. Mild bruising or discomfort may occur.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Consultation with a genetic counselor to discuss test implications and family history.
2
During the Test:Sample collection as per instructions, followed by DNA extraction and NGS analysis in the lab.
3
After the Test:Report generation and delivery; follow-up consultation recommended for result interpretation.

About This Test

Who Should Get This Test

The purpose of this test is to confirm the diagnosis of 46,XY gonadal dysgenesis, partial, with minifascicular neuropathy by identifying pathogenic variants in the DHH gene. It aids in genetic counseling, family planning, and targeted treatment strategies for affected individuals.

How to Prepare

  • Bring identification and doctor's referral if applicable
  • Wear loose clothing for easy access
  • Avoid strenuous activity post-collection

Doctor's Notes

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

"This test is crucial for early diagnosis and management of disorders of sex development and associated neuropathies."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 mL
ContainerEDTA tube or FTA Card
Collection MethodVenipuncture or Finger prick for FTA Card

Sample Stability

Blood sample: stable for 48 hours at room temperature
FTA card: stable for extended periods when stored properly
Sample Rejection Criteria:
  • Insufficient sample volume
  • Contaminated or hemolyzed sample
  • Incorrect labeling or missing documentation

Understanding Your Results

Results should be interpreted by a qualified geneticist or healthcare provider in the context of clinical findings and family history.
Positive result: Pathogenic variant detected, confirming diagnosis of DHH-related disorder
Negative result: No pathogenic variants detected, but clinical correlation is needed as symptoms may have other causes
Variant of unknown significance: Further testing, family studies, or genetic counseling may be advised
⚠️ When to Consult a Doctor:

Consult a doctor if symptoms persist, worsen, or if genetic counseling is needed for family members or reproductive planning.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Variants of unknown significance may be found
  • ⚠Does not rule out other genetic causes

Risks & Considerations

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

Interfering Factors

  • ●Poor sample quality
  • ●Contamination
  • ●Low DNA yield
  • ●Previous blood transfusions

Compare With Similar Tests

TestDHH Gene 46,XY Gonadal Dysgenesis, Partial, with Minifascicular Neuropathy NGS Genetic TestChromosomal Analysis (Karyotype)Sanger Sequencing
ComparisonDHH Gene 46,XY Gonadal Dysgenesis, Partial, with Minifascicular Neuropathy NGS Genetic Test

Frequently Asked Questions

What is the DHH Gene NGS Test?
It is a next-generation sequencing test that analyzes the DHH gene for mutations causing 46,XY gonadal dysgenesis with minifascicular neuropathy.
Who should take this test?
Individuals with symptoms like underdeveloped testicles, reduced body hair, gynecomastia, infertility, or neuropathy, and those with a family history of similar conditions.
How is the test performed?
A blood sample or DNA extract is analyzed using NGS technology to detect genetic variations in the DHH gene.
What are the symptoms of this condition?
Symptoms include failure to start puberty, underdeveloped testicles, reduced body hair, breast development in males, infertility, and minifascicular neuropathy.
What is the cost of the test?
The cost is INR 20,000, which includes analysis and report generation.
Is home sample collection available?
Yes, free home sample collection is available 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 after sample collection.
What do the results mean?
A positive result confirms a genetic diagnosis, while a negative result may require further clinical evaluation. Genetic counseling is recommended.
Is the test accurate?
Yes, NGS provides high accuracy for detecting genetic mutations, but interpretation should be done by a specialist.
Are there any risks?
Risks are minimal, mainly related to blood draw, such as bruising or discomfort.
Can this test be used for prenatal diagnosis?
Consult a genetic counselor; prenatal testing may be possible but requires specific protocols.
What should I do after receiving the results?
Discuss results with a geneticist or doctor for management options, and consider genetic counseling for family planning.
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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