BCAT1 Gene Branched-chain aminotransferase 1 deficiency NGS Genetic Test
Short Name: BCAT1 Deficiency NGS Test
Also known as: BCAT1 deficiency, Branched-chain amino acid transaminase 1 deficiency, BCAT1-related metabolic disorder
BCAT1 Gene Branched-chain aminotransferase 1 deficiency 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 from sample receipt. 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 diagnose BCAT1 gene mutations causing branched-chain aminotransferase 1 deficiency, enabling early treatment and management to prevent complications.
- Test Code
- 4646
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks from sample receipt
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
Provide detailed clinical history and undergo genetic counseling to draw a pedigree chart of affected family members.
Method: Venipuncture or finger-prick
Laboratory Analysis
A blood sample will be collected via venipuncture or finger-prick onto an FTA card.
Report Delivery
The sample is sent to the laboratory for DNA extraction and NGS analysis.
Timeline: 3 to 4 weeks from sample receipt
Patient Instructions
About This Test
Who Should Get This Test
To diagnose BCAT1 gene mutations causing branched-chain aminotransferase 1 deficiency, enabling early treatment and management to prevent complications.
How to Prepare
- No fasting required
- Bring valid ID and doctor's prescription
- Ensure sample is properly labeled
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early diagnosis of BCAT1 deficiency through genetic testing is crucial for implementing dietary management and supportive therapies to prevent severe complications like intellectual disability."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted sample
- Insufficient sample volume
- Improperly labeled or contaminated sample
Understanding Your Results
Positive
Pathogenic variant(s) detected, confirming diagnosis. Requires further clinical evaluation and management.
Negative
No pathogenic variants detected. Symptoms may be due to other causes; consider additional testing.
Variant of uncertain significance
Genetic variant found but clinical significance unknown. Genetic counseling recommended.
If symptoms persist, worsen, or if there is a family history of metabolic disorders, consult a geneticist or metabolic specialist immediately.
Limitations
- ⚠May not detect all possible mutations
- ⚠Requires genetic counseling for interpretation
- ⚠Results should be correlated with clinical findings
Risks & Considerations
- ●Minor bruising or pain at blood draw site
- ●Very low risk of infection
- ●Psychological impact of results; genetic counseling provided
Interfering Factors
- ●Sample contamination
- ●Improper storage or handling
- ●Recent blood transfusion
Compare With Similar Tests
| Test | BCAT1 Gene Branched-chain aminotransferase 1 deficiency NGS Genetic Test | MSUD Gene Panel | Organic Acids Test | Amino Acid Profile | Whole Exome Sequencing |
|---|---|---|---|---|---|
| Comparison | BCAT1 Gene Branched-chain aminotransferase 1 deficiency NGS Genetic Test |
Frequently Asked Questions
What is BCAT1 gene deficiency?
What are the common symptoms of BCAT1 deficiency?
How is the NGS genetic test performed?
What is the cost of the BCAT1 gene test?
Is home sample collection available?
How long does it take to get the test results?
Is the test accurate and reliable?
What if the test results are positive?
Can this test be done for newborns?
Is genetic counseling included in the test cost?
Are there any risks associated with the test?
How should I prepare for the test?
Related Tests
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.
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.
Book Your Test
Enter your details and we'll connect you within 15 minutes.