DBT Gene Maple syrup urine disease type 2 NGS Genetic Test
Short Name: DBT Gene MSUD Type 2 NGS Test
Also known as: Maple Syrup Urine Disease Type 2 Genetic Test, DBT Gene Mutation Analysis
DBT Gene Maple syrup urine disease type 2 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 delivered in 3 to 4 weeks via online portal, email, or WhatsApp.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Ramarao Paidisetty
Consultant Biochemist · Reg: 21504
Last reviewed: September 7, 2026
Overview
The purpose of the DBT Gene NGS Genetic Test is to identify pathogenic mutations in the DBT gene, confirming a diagnosis of Maple Syrup Urine Disease Type 2. This facilitates early treatment, genetic counseling, and informed family planning to reduce disease risk.
- Test Code
- 2139
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports delivered in 3 to 4 weeks via online portal, email, or WhatsApp.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. Provide clinical history and family pedigree chart during genetic counseling.
Method: Venipuncture or finger-prick
Laboratory Analysis
A blood sample is drawn via venipuncture or a finger-prick for FTA card collection by a trained phlebotomist.
Report Delivery
Apply pressure to the collection site to prevent bruising. Store samples as per instructions before transport to the lab.
Timeline: Reports delivered in 3 to 4 weeks via online portal, email, or WhatsApp.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the DBT Gene NGS Genetic Test is to identify pathogenic mutations in the DBT gene, confirming a diagnosis of Maple Syrup Urine Disease Type 2. This facilitates early treatment, genetic counseling, and informed family planning to reduce disease risk.
How to Prepare
- Fast for 8-12 hours if specified by the physician, though not generally required
- Avoid hemolysis by proper venipuncture technique
- Label samples correctly with patient details
- Use FTA card for one-drop blood collection if applicable
Doctor's Notes
Reviewed by Dr Ramarao Paidisetty — MBBS, MD (Biochemistry) · Reg. No. 21504
"Early genetic testing for MSUD is crucial for families with a history of metabolic disorders. This test aids in prenatal planning and newborn management to prevent complications."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Insufficient sample volume
- Contaminated or hemolyzed samples
- Incorrect sample labeling
- Expired collection devices
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of MSUD type 2; initiate treatment and genetic counseling
Action: Consult a metabolic specialist immediately
No pathogenic variant detected
DBT gene mutations not identified; consider other genetic or metabolic causes
Action: Discuss with healthcare provider for further evaluation
Variant of uncertain significance
Further research needed; may not be disease-causing
Action: Follow-up with genetic counselor for updated information
Consult a doctor if test results are positive, if symptoms persist despite negative results, or for genetic counseling regarding family planning.
Limitations
- ⚠Detects only mutations in the DBT gene; may not identify variants in other MSUD-related genes
- ⚠Cannot determine severity or prognosis solely based on genotype
- ⚠Results may require confirmation with additional tests
Risks & Considerations
- ●Minor bruising or pain at the blood draw site
- ●Extremely low risk of infection
- ●No significant risks from the genetic test itself
Interfering Factors
- ●Hemolyzed or degraded blood samples
- ●Contaminated DNA samples
- ●Recent blood transfusions
- ●Improper sample storage
Compare With Similar Tests
| Test | DBT Gene Maple syrup urine disease type 2 NGS Genetic Test | BCKDHA Gene Test | BCKDHB Gene Test | Metabolic Panel | Newborn Screening |
|---|---|---|---|---|---|
| Comparison | DBT Gene Maple syrup urine disease type 2 NGS Genetic Test |
Frequently Asked Questions
What is Maple Syrup Urine Disease Type 2?
Who should get the DBT Gene NGS Genetic Test?
How is the test performed?
What is the cost of the test in India?
How long does it take to get results?
Is fasting required for the test?
What are the symptoms of MSUD?
Can this test be used for prenatal diagnosis?
What does a positive result mean?
Are there any risks associated with the test?
How accurate is the NGS Genetic Test?
What should I do if the test is negative but symptoms persist?
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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.
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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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