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AMH Gene Persistent Mullerian duct syndrome type 1 NGS Genetic Test

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AMH Gene Persistent Mullerian duct syndrome type 1 NGS Genetic Test

Short Name: AMH Gene PMDS Type 1 NGS Test

Also known as: Persistent Mullerian Duct Syndrome Type 1, AMH Gene Mutation Test, PMDS Type 1 Genetic Test

AMH Gene Persistent Mullerian duct syndrome type 1 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 3-4 weeks from sample receipt. Free home collection in 300+ cities across India.

NGS Genetic TestMale🏠 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 diagnose PMDS Type 1 by detecting mutations in the AMH gene using NGS technology, aiding in clinical management and genetic counseling.

Test Code
5545
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3-4 weeks from sample receipt
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation required. Ensure clinical history and genetic counseling session are completed.

Method: Venipuncture or FTA card collection

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or FTA card by a trained phlebotomist.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. Store sample as instructed.

Timeline: 3-4 weeks from sample receipt

Patient Instructions

1
Before the Test:Consult with a genetic counselor to discuss test implications and family history.
2
During the Test:Sample collection and laboratory analysis using NGS technology.
3
After the Test:Review results with a healthcare provider or genetic counselor for interpretation and next steps.

About This Test

Who Should Get This Test

To diagnose PMDS Type 1 by detecting mutations in the AMH gene using NGS technology, aiding in clinical management and genetic counseling.

How to Prepare

  • Ensure proper labeling of samples
  • Transport at ambient temperature
  • Follow kit instructions for FTA card collection

Doctor's Notes

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

"This test is crucial for diagnosing PMDS Type 1 in males with ambiguous genitalia or undescended testes, enabling early 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 required
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or FTA card collection

Sample Stability

Blood: 7 days at 2-8°C
FTA card: Room temperature for up to 30 days
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Improperly labeled samples

Understanding Your Results

Results indicate the presence or absence of mutations in the AMH gene, which are associated with PMDS Type 1.
📊

Pathogenic mutation detected

Confirms diagnosis of PMDS Type 1. Genetic counseling and clinical management recommended.

📊

No pathogenic mutation detected

PMDS Type 1 unlikely based on this gene. Clinical correlation and further testing may be needed.

⚠️ When to Consult a Doctor:

If symptoms of PMDS Type 1 are present, such as ambiguous genitalia or undescended testes, or for genetic counseling before and after testing.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Requires correlation with clinical findings
  • ⚠Genetic counseling recommended for interpretation

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Potential psychological impact of genetic results
  • ●Risk of genetic discrimination, though protected by laws in some regions

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Improper sample handling

Compare With Similar Tests

TestAMH Gene Persistent Mullerian duct syndrome type 1 NGS Genetic TestAMH Gene Sanger SequencingKaryotyping
ComparisonAMH Gene Persistent Mullerian duct syndrome type 1 NGS Genetic Test

Frequently Asked Questions

What is Persistent Mullerian Duct Syndrome Type 1?
PMDS Type 1 is a rare genetic disorder in males caused by mutations in the AMH gene, leading to incomplete regression of female reproductive organs during fetal development.
What causes PMDS Type 1?
It is caused by mutations in the AMH gene, which is responsible for producing Anti-Mullerian Hormone crucial for male sex organ development.
What are the symptoms of PMDS Type 1?
Symptoms include presence of female reproductive organs in males, undescended testes, inguinal hernia, hypospadias, absence of vas deferens, and infertility.
How is PMDS Type 1 diagnosed?
Diagnosis involves clinical evaluation and genetic testing, such as the AMH Gene NGS Genetic Test, to detect mutations in the AMH gene.
What is the AMH Gene NGS Genetic Test?
It is a Next Generation Sequencing test that analyzes the AMH gene for mutations associated with PMDS Type 1, providing accurate and comprehensive results.
How is the test performed?
The test requires a blood sample or extracted DNA, which is analyzed using NGS technology in a laboratory setting.
What is the cost of the test?
The test costs INR 20000.0, with free home sample collection available across India.
How long does it take to get results?
Results are typically available within 3-4 weeks from the date of sample receipt.
Is the test covered by insurance?
Coverage varies by insurance plan. It is advisable to check with your provider for specific details.
What should I do if I have symptoms?
Consult a healthcare professional or genetic counselor for evaluation and to discuss the need for genetic testing.
Can PMDS Type 1 be treated?
Treatment focuses on managing symptoms, such as surgical correction of anatomical issues, and genetic counseling for family planning.
How accurate is the NGS Genetic Test?
NGS technology offers high accuracy for detecting gene mutations, but results should be interpreted in conjunction with clinical findings by a 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

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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