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DLD Gene Maple syrup urine disease type 3 NGS Genetic Test

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DLD Gene Maple syrup urine disease type 3 NGS Genetic Test

Short Name: DLD Gene MSUD Type 3 NGS Test

Also known as: MSUD Type 3 DLD Gene Test, DLD Deficiency Genetic Test, Maple Syrup Urine Disease Type 3 NGS Test

DLD Gene Maple syrup urine disease type 3 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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.

Genetic TestAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To diagnose Maple Syrup Urine Disease Type 3 by detecting mutations in the DLD gene and to identify potential carriers for family planning and early treatment.

Test Code
2141
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 Technology
Step 1

Sample Collection

Genetic counseling session to discuss family history and draw a pedigree chart. Clinical history review of the patient.

Method: Venipuncture or FTA Card Spot

Step 2

Laboratory Analysis

Standard blood draw using venipuncture or collection of saliva/blood spot on FTA card per kit instructions.

Step 3

Report Delivery

Label sample correctly and store at ambient room temperature as per kit guidelines. Send to laboratory promptly.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling session and clinical history assessment. No special preparation required.
2
During the Test:Sample collection via blood draw or saliva/FTA card. Procedure is minimally invasive.
3
After the Test:Sample analysis in the lab. Report generation and delivery. Genetic counseling post-results recommended.

About This Test

Who Should Get This Test

To diagnose Maple Syrup Urine Disease Type 3 by detecting mutations in the DLD gene and to identify potential carriers for family planning and early treatment.

How to Prepare

  • Fasting is not required
  • Use the provided DNA Labs India collection kit
  • Ensure sample is not contaminated
  • Follow kit instructions for blood spot on FTA card

Doctor's Notes

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

"Early genetic testing for Maple Syrup Urine Disease Type 3 can guide treatment and family planning, preventing severe complications."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
ContainerFTA Card or EDTA Tube
Collection MethodVenipuncture or FTA Card Spot

Sample Stability

Blood sample stable for 7 days at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Insufficient sample volume
  • Contaminated or hemolyzed sample
  • Incorrect sample type or container

Understanding Your Results

Results indicate the presence or absence of mutations in the DLD gene associated with Maple Syrup Urine Disease Type 3.
Positive result: Pathogenic mutation detected, confirming diagnosis or carrier status. Clinical correlation and genetic counseling recommended.
Negative result: No pathogenic mutations found. Symptoms may be due to other causes; further testing may be needed.
Variant of uncertain significance (VUS): Mutation detected but not clearly linked to disease. Follow-up testing and monitoring advised.
⚠️ When to Consult a Doctor:

If symptoms such as poor feeding, developmental delays, or maple syrup odor are present, or if there is a family history of Maple Syrup Urine Disease.

Limitations

  • ⚠May not detect all genetic variants or unknown mutations
  • ⚠Results require interpretation by a genetic specialist
  • ⚠Does not rule out other metabolic disorders

Risks & Considerations

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

Interfering Factors

  • ●Sample degradation or contamination
  • ●Improper sample collection or storage

Frequently Asked Questions

What is DLD Gene Maple Syrup Urine Disease Type 3?
It is a rare genetic disorder caused by mutations in the DLD gene, affecting the breakdown of certain amino acids, leading to toxic buildup and symptoms like poor feeding and developmental delays.
What are the common symptoms of this disease?
Symptoms include poor feeding and vomiting in infants, developmental delays, intellectual disability, seizures, abnormal muscle tone, and a maple syrup odor in urine, sweat, or earwax.
How is the DLD Gene NGS Genetic Test performed?
The test uses Next Generation Sequencing technology to analyze the DLD gene from a blood or saliva sample, identifying mutations associated with the disease.
What does a positive test result mean?
A positive result indicates the presence of pathogenic mutations in the DLD gene, confirming diagnosis or carrier status. Genetic counseling is recommended for next steps.
Is this genetic test covered by insurance in India?
Coverage varies; it is often not covered by government schemes like PMJAY or CGHS. Check with your private insurer for details.
How long does it take to receive the test results?
Results are typically available in 3 to 4 weeks after sample collection.
Can this test be done for newborns?
Yes, it can be performed on newborns, especially if symptoms are present or there is a family history. Early diagnosis is crucial.
What is the cost of the DLD Gene MSUD Type 3 NGS Genetic Test?
The test costs INR 20,000, which includes sample collection and analysis. Home collection is free for online bookings across India.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings in numerous cities across India.
Who should consider getting this genetic test?
Individuals with symptoms of Maple Syrup Urine Disease, those with a family history of the condition, or newborns with screening abnormalities should consider testing.
What are the treatment options after a positive diagnosis?
Treatment involves a specialized diet low in branched-chain amino acids, monitoring, and supportive care. Early intervention improves outcomes.
How accurate is the NGS genetic test for detecting DLD gene mutations?
The test has high accuracy using NGS technology, but no test is 100% infallible. Genetic counseling helps interpret results in context.
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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