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AMHR2 Gene Persistent Mullerian duct syndrome type 2 NGS Genetic Test

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AMHR2 Gene Persistent Mullerian duct syndrome type 2 NGS Genetic Test

Short Name: AMHR2 PMDS2 NGS Test

Also known as: PMDS2, Persistent Mullerian Duct Syndrome Type 2, AMHR2 Mutation Test

AMHR2 Gene Persistent Mullerian duct syndrome type 2 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 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 mutations in the AMHR2 gene causing Persistent Mullerian Duct Syndrome Type 2 (PMDS2), enabling early intervention, genetic counseling, and informed reproductive decisions.

Test Code
5547
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

No special preparation required. A genetic counseling session is recommended to discuss family history and draw a pedigree chart.

Method: Venipuncture or Cheek Swab

Step 2

Laboratory Analysis

Blood sample will be drawn via venipuncture or a cheek swab will be taken. The procedure is quick and minimally invasive.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. Resume normal activities immediately.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Schedule a genetic counseling session to discuss the test, implications, and family history. No fasting is required.
2
During the Test:A blood sample or cheek swab will be collected by a trained technician. The process takes about 10-15 minutes.
3
After the Test:Results will be available in 3-4 weeks. Follow up with your doctor or genetic counselor to discuss findings.

About This Test

Who Should Get This Test

To diagnose mutations in the AMHR2 gene causing Persistent Mullerian Duct Syndrome Type 2 (PMDS2), enabling early intervention, genetic counseling, and informed reproductive decisions.

How to Prepare

  • Bring a valid ID and doctor's prescription
  • Inform the technician of any medications or recent transfusions
  • Ensure sample is labeled correctly

Doctor's Notes

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

"This test is crucial for early diagnosis and management of PMDS2, aiding in family planning and treatment decisions for affected individuals."

Last medically reviewed: September 7, 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 Cheek Swab

Sample Stability

Blood in EDTA tube: Stable at 2-8°C for 48 hours
FTA Card: Stable at room temperature for extended periods
Extracted DNA: Stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Incorrectly labeled or unlabeled samples

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the AMHR2 gene. A positive result confirms a genetic basis for PMDS2, while a negative result may require further testing.
📊

Positive

Pathogenic variant detected in AMHR2 gene, consistent with diagnosis of Persistent Mullerian Duct Syndrome Type 2. Genetic counseling and clinical management recommended.

📊

Negative

No pathogenic variants detected. Clinical correlation is advised, as symptoms may be due to other genetic or non-genetic factors.

📊

Variant of Uncertain Significance (VUS)

A genetic variant was found, but its clinical significance is unknown. Further testing and family studies may be needed.

⚠️ When to Consult a Doctor:

Consult a doctor if you or your child exhibits symptoms such as undescended testicles, ambiguous genitalia, or infertility. Also, seek genetic counseling if there is a family history of PMDS2.

Limitations

  • ⚠May not detect all types of mutations in the AMHR2 gene
  • ⚠Results require clinical correlation and genetic counseling
  • ⚠Does not rule out other genetic causes of similar symptoms

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Genetic privacy concerns; ensure data is handled securely
  • ●Emotional impact of results; genetic counseling recommended

Interfering Factors

  • ●Contaminated or degraded DNA sample
  • ●Improper sample storage or handling
  • ●Recent blood transfusion may affect results

Compare With Similar Tests

TestAMHR2 Gene Persistent Mullerian duct syndrome type 2 NGS Genetic TestAMH Hormone TestKaryotype AnalysisFISH for Sex Chromosomes
ComparisonAMHR2 Gene Persistent Mullerian duct syndrome type 2 NGS Genetic Test

Frequently Asked Questions

What is AMHR2 Gene Persistent Mullerian Duct Syndrome Type 2?
It is a rare genetic disorder caused by mutations in the AMHR2 gene, leading to the persistence of Mullerian ducts in males, resulting in the development of female reproductive organs like uterus and fallopian tubes.
What are the symptoms of PMDS2?
Symptoms include undescended testicles, ambiguous genitalia, presence of female reproductive organs in males, infertility, and absent or underdeveloped prostate gland. Some cases may be asymptomatic.
How is PMDS2 diagnosed?
Diagnosis involves physical exams, hormone level tests, imaging (ultrasound/MRI), and genetic testing such as NGS to identify AMHR2 gene mutations.
What is the NGS Genetic Test for PMDS2?
It is a Next-Generation Sequencing test that analyzes the DNA sequence of the AMHR2 gene to detect mutations or abnormalities, providing a definitive genetic diagnosis.
What is the cost of the AMHR2 Gene Test?
The test costs INR 20,000, which includes sample collection, genetic analysis, and report generation. Home collection is available across India.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings across numerous cities in India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What sample types are accepted for the test?
Accepted samples include blood, extracted DNA, or one drop of blood on an FTA card. Collection can be done via venipuncture or cheek swab.
Is fasting required for the AMHR2 Gene Test?
No, fasting is not required for this test. You can eat and drink normally before sample collection.
Who should consider getting this test?
Individuals with symptoms of PMDS2, such as undescended testicles or ambiguous genitalia, or those with a family history of the condition should consider testing.
What does a positive test result mean?
A positive result indicates a pathogenic mutation in the AMHR2 gene, confirming a diagnosis of PMDS2. Genetic counseling is recommended for management and family planning.
How can I book the AMHR2 Gene Test?
You can book the test online through DNA Labs India's website or by contacting their customer service. Home sample collection is available for convenience.
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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