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BCKDHA Gene Maple syrup urine disease type 1a NGS Genetic Test

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BCKDHA Gene Maple syrup urine disease type 1a NGS Genetic Test

Short Name: BCKDHA Gene MSUD Type 1a Test

Also known as: MSUD, BCKDHA Gene Mutation Test, Maple Syrup Urine Disease Genetic Test

BCKDHA Gene Maple syrup urine disease type 1a NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood, Extracted DNA, or One drop Blood on FTA Card samples. Results in Results are typically available within 3 to 4 weeks from sample receipt.. Free home collection in 300+ cities across India.

Genetic TestAll Ages🏠 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

The purpose of this test is to diagnose Maple Syrup Urine Disease Type 1a by identifying mutations in the BCKDHA gene using NGS technology. It helps confirm the condition in symptomatic individuals, supports carrier testing for family members, and guides management strategies to prevent life-threatening complications.

Test Code
2138
Price
₹20,000
Sample Type
Blood, Extracted DNA, or One drop Blood on FTA Card
Result Time
Results are typically available within 3 to 4 weeks from sample receipt.
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

Consult with a genetic counselor to discuss test implications and provide detailed clinical history. Ensure sample is collected by a trained professional.

Method: Venipuncture or Finger prick

Step 2

Laboratory Analysis

Standard blood draw via venipuncture or finger prick for FTA card, with proper labeling and handling.

Step 3

Report Delivery

Follow up with your healthcare provider or genetic counselor to interpret results and plan next steps.

Timeline: Results are typically available within 3 to 4 weeks from sample receipt.

Patient Instructions

1
Before the Test:Genetic counseling is recommended to understand the test's implications, provide informed consent, and discuss potential outcomes.
2
During the Test:Sample collection is non-invasive with minimal risks. The test involves NGS analysis in a laboratory setting.
3
After the Test:Results are interpreted by a genetic counselor. If positive, a management plan including dietary restrictions and regular monitoring will be advised.

About This Test

Who Should Get This Test

The purpose of this test is to diagnose Maple Syrup Urine Disease Type 1a by identifying mutations in the BCKDHA gene using NGS technology. It helps confirm the condition in symptomatic individuals, supports carrier testing for family members, and guides management strategies to prevent life-threatening complications.

How to Prepare

  • No fasting required for this test
  • Sample must be collected by a trained phlebotomist or healthcare provider
  • Label the sample container accurately with patient details
  • Transport the sample to the lab within specified stability times

Doctor's Notes

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

"Early genetic testing for MSUD can prevent severe complications like coma and improve long-term outcomes. Consult a genetic counselor for personalized advice."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood, Extracted DNA, or One drop Blood on FTA Card
Sample VolumeVaries
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or Finger prick

Sample Stability

Blood sample stable for 24 hours at room temperature
Extracted DNA stable for up to 7 days when refrigerated
FTA card samples stable at room temperature for extended periods
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Incorrect or missing patient identification
  • Insufficient sample volume
  • Sample not collected or stored as per instructions

Understanding Your Results

Interpretation of genetic test results for MSUD Type 1a requires expertise in clinical genetics. Results should be reviewed by a qualified genetic counselor or healthcare provider to understand implications for diagnosis, treatment, and family planning.
📊

Positive for pathogenic BCKDHA variant

Confirms diagnosis of MSUD Type 1a. Immediate dietary management and emergency protocols are recommended to prevent metabolic crises.

📊

Negative for pathogenic variants

No BCKDHA mutations detected, but clinical correlation is needed if symptoms persist. Consider other genetic or non-genetic causes.

📊

Variant of uncertain significance (VUS)

Further testing, family studies, or functional assays may be required to determine clinical relevance. Genetic counseling advised.

📊

Carrier status identified

Individual is a carrier for MSUD Type 1a. Genetic counseling recommended for family planning and testing at-risk relatives.

⚠️ When to Consult a Doctor:

Consult a geneticist, pediatrician, or metabolic specialist if you or your child shows symptoms of MSUD, have a family history of the disorder, or receive abnormal newborn screening results.

Limitations

  • ⚠May not detect all genetic variants, such as deep intronic mutations
  • ⚠Turnaround time can vary based on sample quality or lab workload
  • ⚠Requires correlation with clinical findings and genetic counseling
  • ⚠Does not assess for other forms of MSUD not linked to BCKDHA

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Psychological impact of positive or uncertain results
  • ●Potential for incidental findings unrelated to MSUD

Interfering Factors

  • ●Sample degradation due to improper storage
  • ●Contamination during collection or processing
  • ●Insufficient DNA yield from the sample
  • ●Previous blood transfusions affecting DNA profile

Compare With Similar Tests

TestBCKDHA Gene Maple syrup urine disease type 1a NGS Genetic TestPlasma Amino Acid AnalysisUrine Organic Acids TestBCKDHB Gene NGS TestNewborn Metabolic Screening Panel
ComparisonBCKDHA Gene Maple syrup urine disease type 1a NGS Genetic Test

Frequently Asked Questions

What is Maple Syrup Urine Disease Type 1a?
MSUD Type 1a is a rare genetic disorder caused by mutations in the BCKDHA gene, leading to inability to break down certain amino acids, resulting in toxic buildup and symptoms like vomiting, seizures, and characteristic odor.
How is the BCKDHA gene test performed?
The test uses Next-Generation Sequencing (NGS) technology to analyze the BCKDHA gene from a blood or saliva sample, detecting mutations associated with MSUD Type 1a.
What is the cost of this genetic test?
The BCKDHA Gene MSUD Type 1a NGS Genetic Test costs INR 20000 at DNA Labs India, with home sample collection available.
Is home sample collection available across India?
Yes, DNA Labs India offers free home sample collection for this test in numerous cities across India, including Mumbai, Delhi, Bangalore, and many others.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection, delivered via online portal, email, or WhatsApp.
What are the symptoms of MSUD?
Symptoms include difficulty feeding, vomiting, poor weight gain, weakness, lethargy, seizures, coma, and a sweet maple syrup smell in urine and sweat, often appearing shortly after birth.
Why is early diagnosis important?
Early diagnosis allows for prompt treatment with dietary management and emergency care, preventing severe neurological damage, coma, and improving long-term outcomes.
Can this test be used for carrier testing?
Yes, the test can identify carriers of BCKDHA mutations, which is useful for family planning and genetic counseling.
What sample types are accepted?
The test accepts blood, extracted DNA, or one drop of blood on an FTA card. No fasting is required.
Is genetic counseling required before testing?
Genetic counseling is strongly recommended to understand test implications, interpret results, and discuss management options.
What if the test result is positive?
A positive result confirms MSUD Type 1a. You should consult a metabolic specialist for a treatment plan including dietary restrictions and monitoring.
Is the test covered by insurance?
Coverage varies by insurance plan. It is not typically covered under government schemes like PMJAY or CGHS, but check with your private insurer for details.
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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