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MAMLD1 Gene Hypospadias type 2, X-linked NGS Genetic Test

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MAMLD1 Gene Hypospadias type 2, X-linked NGS Genetic Test

Short Name: MAMLD1 Hypospadias Genetic Test

Also known as: MAMLD1 Gene Analysis, Hypospadias Type 2 Genetic Test, X-linked Hypospadias Test

MAMLD1 Gene Hypospadias type 2, X-linked 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 4-6 weeks. Free home collection in 300+ cities across India.

Next-Generation Sequencing (NGS)MaleInfants🏠 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 MAMLD1 gene associated with hypospadias type 2 for diagnosis, genetic counseling, and management planning.

Test Code
5538
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
4-6 weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation required. Provide clinical history and family pedigree during genetic counseling.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collected via venipuncture by a trained phlebotomist. For FTA card, one drop of blood is applied.

Step 3

Report Delivery

Apply pressure to the puncture site to stop bleeding. Ensure sample is labeled correctly and stored as per instructions.

Timeline: 4-6 weeks

Patient Instructions

1
Before the Test:No special preparation required. Provide detailed clinical and family history.
2
During the Test:Sample collection via blood draw or saliva. Procedure is quick and minimally invasive.
3
After the Test:Resume normal activities. Monitor puncture site for any signs of infection.

About This Test

Who Should Get This Test

To detect mutations in the MAMLD1 gene associated with hypospadias type 2 for diagnosis, genetic counseling, and management planning.

How to Prepare

  • Ensure proper patient identification
  • Use sterile collection equipment
  • Label sample with patient details and test name
  • Transport sample to lab within stability period

Doctor's Notes

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

"Genetic testing for MAMLD1 mutations can aid in early diagnosis and management of hypospadias type 2, guiding treatment decisions and family counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 mL of blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture

Sample Stability

Room temperature24 hours
Refrigerated (2-8°C)7 days
Sample Rejection Criteria:
  • Insufficient sample volume
  • Contaminated or hemolyzed sample
  • Incorrect labeling or missing information
  • Sample beyond stability period

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the MAMLD1 gene, which may be associated with hypospadias type 2.
📊

Pathogenic variant detected

Confirms diagnosis of MAMLD1-related hypospadias type 2. Genetic counseling and management recommended.

📊

No pathogenic variant detected

MAMLD1 mutation not identified. Consider other genetic or environmental factors. Clinical correlation advised.

📊

Variant of uncertain significance (VUS)

Further evaluation and family studies may be needed. Consult a geneticist for guidance.

⚠️ When to Consult a Doctor:

If a pathogenic variant is detected, consult a geneticist or urologist for management. If no variant is found but symptoms persist, further evaluation by a specialist is recommended.

Limitations

  • ⚠May not detect all mutations in the MAMLD1 gene
  • ⚠Does not rule out other genetic or environmental causes of hypospadias
  • ⚠Results require interpretation by a genetic specialist

Risks & Considerations

  • ●Minor bruising or pain at the puncture site
  • ●Rare risk of infection
  • ●Minimal bleeding

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Hemolyzed blood sample
  • ●Improper sample storage

Compare With Similar Tests

TestMAMLD1 Gene Hypospadias type 2, X-linked NGS Genetic TestHypospadias Genetic Panel TestsKaryotype Analysis
ComparisonMAMLD1 Gene Hypospadias type 2, X-linked NGS Genetic Test

Frequently Asked Questions

What is the MAMLD1 Gene Hypospadias test?
It is a genetic test that uses next-generation sequencing to detect mutations in the MAMLD1 gene, associated with hypospadias type 2, a severe form of hypospadias.
Who should undergo this genetic test?
Individuals with suspected hypospadias type 2, family history of X-linked hypospadias, or congenital genital abnormalities in male infants.
How is the test performed?
The test analyzes DNA from a blood or saliva sample using NGS technology to sequence the MAMLD1 gene.
What sample is required for the test?
Blood (3-5 mL), extracted DNA, or one drop of blood on an FTA card.
What is the cost of the test?
The test costs INR 20,000, which includes home sample collection across India.
How long does it take to get results?
Results are typically available within 4-6 weeks after sample receipt.
Is home sample collection available?
Yes, free home sample collection is available for online bookings in numerous cities across India.
What do the results indicate?
Results show whether pathogenic variants in the MAMLD1 gene are detected, which can confirm diagnosis and guide management.
Are there any risks associated with the test?
Risks are minimal, such as minor bruising or pain from blood draw. Serious complications are rare.
How can I prepare for the test?
No special preparation is needed. Provide clinical history and family pedigree during genetic counseling.
What should I do if the test shows a mutation?
Consult a geneticist or urologist for further evaluation, management, and genetic counseling.
Is the test covered by insurance?
Coverage depends on your insurance plan. Check with your provider for details on genetic testing coverage.
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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