MAMLD1 Gene Hypospadias type 2, X-linked NGS Genetic Test
Short Name: MAMLD1 NGS Test
Also known as: MAMLD1 Gene Mutation Test, Hypospadias Genetic Panel, X-linked Hypospadias NGS
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 Reports are typically available within 3 to 4 weeks after the sample reaches the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 3, 2026
Overview
The purpose of this test is to detect mutations in the MAMLD1 gene that are associated with X-linked hypospadias type 2. It helps in confirming the clinical diagnosis, understanding the genetic cause, and providing information for genetic counseling and recurrence risk assessment.
- Test Code
- 5799
- CPT Code
- 81407
- ICD Code
- Q54.2
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are typically available within 3 to 4 weeks after the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. However, a genetic counseling session is recommended before the test to discuss the implications and obtain informed consent.
Method: Venipuncture or Fingerstick
Laboratory Analysis
Blood sample is collected by a trained phlebotomist. For FTA card, a few drops of blood are placed on the card and allowed to dry.
Report Delivery
No specific precautions. The sample is sent to the laboratory for analysis.
Timeline: Reports are typically available within 3 to 4 weeks after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to detect mutations in the MAMLD1 gene that are associated with X-linked hypospadias type 2. It helps in confirming the clinical diagnosis, understanding the genetic cause, and providing information for genetic counseling and recurrence risk assessment.
How to Prepare
- Ensure the patient's identity is verified.
- Use sterile EDTA tube for blood collection.
- For FTA card, apply blood drops to the designated circles.
- Label the sample with patient's name and date of birth.
- Transport the sample at ambient temperature.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic diagnosis of MAMLD1 mutations helps in planning surgical management and genetic counseling for families."
Last medically reviewed: September 3, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed blood sample
- Clotted blood sample
- Incorrectly labeled sample
- Sample received after prolonged transit time without proper storage
Understanding Your Results
Pathogenic variant detected
Confirms the genetic cause of hypospadias. Genetic counseling is recommended for the family.
Likely pathogenic variant detected
Highly suggestive of the condition; further family studies may be needed.
Variant of uncertain significance (VUS)
Cannot be definitively classified; additional testing or family segregation analysis may be required.
No pathogenic variant detected
No mutation found in MAMLD1 gene; other genetic or non-genetic causes should be considered.
If your child has been diagnosed with hypospadias or you have a family history of the condition, consult a pediatrician or genetic counselor to discuss genetic testing and management options.
Limitations
- ⚠This test detects mutations only in the MAMLD1 gene; other genes may also cause hypospadias.
- ⚠Variant of uncertain significance (VUS) may require further family studies.
- ⚠Large deletions/duplications may not be detected by standard NGS; additional testing may be needed.
- ⚠Genetic testing does not predict the severity of hypospadias.
Risks & Considerations
- ●Minimal risk of bleeding or bruising at the puncture site
- ●Rare risk of infection
- ●Psychological impact of genetic results
Interfering Factors
- ●Contaminated or degraded DNA sample
- ●Recent blood transfusion (within 2 weeks)
- ●Bone marrow transplantation
- ●Maternal cell contamination in prenatal samples
Compare With Similar Tests
| Test | MAMLD1 Gene Hypospadias type 2, X-linked NGS Genetic Test | Whole Exome Sequencing (WES) | Targeted MAMLD1 Gene Sequencing |
|---|---|---|---|
| Comparison | MAMLD1 Gene Hypospadias type 2, X-linked NGS Genetic Test |
Frequently Asked Questions
What is the cost of the MAMLD1 gene NGS genetic test?
What sample is required for this test?
Is fasting required before the test?
How long does it take to get the results?
Is home sample collection available?
What does the test detect?
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Can this test be done on children?
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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.
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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