BCKDHB Gene Maple syrup urine disease type 1b NGS Genetic Test
Short Name: MSUD Type 1b NGS Test
Also known as: MSUD Type 1b, BCKDHB Gene Mutation Test, Maple Syrup Urine Disease Genetic Test
BCKDHB Gene Maple syrup urine disease type 1b 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 3 to 4 Weeks. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
To identify pathogenic mutations in the BCKDHB gene for accurate diagnosis of Maple Syrup Urine Disease Type 1b, enabling early intervention, genetic counseling, and family screening.
- Test Code
- 2142
- 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
- Next Generation Sequencing (NGS)
Sample Collection
No special preparation required. Genetic counseling is recommended to discuss family history and test implications.
Method: Venipuncture or Finger-prick
Laboratory Analysis
A blood sample is drawn from a vein using a needle or a finger-prick for FTA card collection, following aseptic techniques.
Report Delivery
Apply gentle pressure to the puncture site with a cotton ball to stop bleeding. Keep the area clean and dry.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To identify pathogenic mutations in the BCKDHB gene for accurate diagnosis of Maple Syrup Urine Disease Type 1b, enabling early intervention, genetic counseling, and family screening.
How to Prepare
- Ensure proper patient identification
- Use sterile equipment and aseptic technique
- Label the sample accurately with patient details
- Transport sample at ambient temperature unless specified
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for MSUD Type 1b is essential for early detection in newborns and family screening, enabling proactive management and genetic counseling to improve outcomes."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Insufficient sample volume
- Hemolyzed or clotted blood sample
- Incorrect labeling or missing information
- Sample received beyond stability period
Understanding Your Results
Pathogenic variant detected
Diagnosis of Maple Syrup Urine Disease Type 1b is confirmed. Genetic counseling, dietary management, and monitoring are recommended.
No pathogenic variant detected
MSUD Type 1b is unlikely based on this test. Consider other genetic or metabolic causes if symptoms persist.
Variant of uncertain significance
Further testing or family studies may be needed. Consult with a geneticist for interpretation.
If you or your child exhibits symptoms such as sweet-smelling urine, poor feeding, developmental delays, lethargy, or seizures, consult a healthcare professional or geneticist immediately for evaluation and testing.
Limitations
- ⚠Detects only known mutations in the BCKDHB gene
- ⚠Does not rule out other forms of Maple Syrup Urine Disease
- ⚠Results may require confirmation with additional methods
Risks & Considerations
- ●Minor bruising or pain at the blood draw site
- ●Rare risk of infection or fainting
- ●No significant risks associated with genetic testing itself
Interfering Factors
- ●Hemolyzed blood sample
- ●Contaminated or degraded DNA
- ●Improper sample storage
Frequently Asked Questions
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