BCAT2 Gene Branched-chain aminotransferase 2 deficiency NGS Genetic Test
Short Name: BCAT2 Gene NGS Test
Also known as: BCAT2 Deficiency NGS Test, Branched-chain Aminotransferase 2 Gene Sequencing, BCAT2 Gene Mutation Analysis, BCAT2 Molecular Genetic Test
BCAT2 Gene Branched-chain aminotransferase 2 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 Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory.. 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
The purpose of the BCAT2 Gene NGS Genetic Test is to identify pathogenic or likely pathogenic variants in the BCAT2 gene that cause branched-chain aminotransferase 2 deficiency. This test aids in confirming a clinical diagnosis of the disorder, differentiating it from other inborn errors of branched-chain amino acid metabolism such as maple syrup urine disease (MSUD), guiding treatment and dietary management decisions, enabling carrier testing for family members, and facilitating informed reproductive planning through genetic counselling.
- Test Code
- 1904
- CPT Code
- 81479
- ICD Code
- E71.1
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One Drop Blood on FTA Card
- Result Time
- Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
A genetic counselling session is recommended prior to sample collection to obtain informed consent, document a detailed clinical history, and draw a pedigree chart of family members affected with branched-chain aminotransferase 2 deficiency or related metabolic conditions. No fasting is required.
Method: Venipuncture
Laboratory Analysis
A blood sample of approximately 3–5 mL will be collected via standard venipuncture into an EDTA (lavender-top) tube. Alternatively, extracted DNA or one drop of blood on an FTA card may be submitted. The collection process typically takes 5–10 minutes.
Report Delivery
Apply gentle pressure to the puncture site with a cotton ball or gauze for 2–3 minutes. No special post-procedure care is needed. Results will be available within 3 to 4 weeks and will be delivered via the online portal, email, or WhatsApp.
Timeline: Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the BCAT2 Gene NGS Genetic Test is to identify pathogenic or likely pathogenic variants in the BCAT2 gene that cause branched-chain aminotransferase 2 deficiency. This test aids in confirming a clinical diagnosis of the disorder, differentiating it from other inborn errors of branched-chain amino acid metabolism such as maple syrup urine disease (MSUD), guiding treatment and dietary management decisions, enabling carrier testing for family members, and facilitating informed reproductive planning through genetic counselling.
How to Prepare
- Collect 3–5 mL of venous blood in an EDTA (lavender-top) tube under aseptic conditions
- Alternatively, submit extracted DNA (minimum 1 µg) or one drop of blood on an FTA card
- Clearly label the sample with the patient's full name, date of birth, and unique identification number
- Ensure the tube is gently inverted 8–10 times immediately after collection to prevent clotting
- Store the sample at 2–8°C and transport to the laboratory within 48 hours of collection
- Complete the test requisition form with all relevant clinical history and family pedigree information
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"BCAT2 gene testing is valuable for families with a history of inherited metabolic disorders. For couples planning a pregnancy or those with a known family history of branched-chain amino acid metabolism disorders, carrier screening and confirmatory genetic testing can guide reproductive decisions and enable early intervention for affected newborns. I recommend this test for any individual presenting with unexplained developmental delays, seizures, or metabolic abnormalities with a suspected genetic etiology."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed blood samples
- Clotted blood samples collected in EDTA tubes
- Insufficient sample volume (less than 2 mL of blood)
- Samples collected in incorrect tube type (e.g., heparin tubes)
- Improperly labeled or unlabeled samples
- Samples received beyond the acceptable stability window
Understanding Your Results
No Pathogenic or Likely Pathogenic Variants Detected
No disease-causing mutations were identified in the BCAT2 gene. This result reduces the likelihood of BCAT2 deficiency but does not completely exclude other genetic or non-genetic causes of the patient's symptoms. Clinical correlation and further investigation may be warranted.
Pathogenic or Likely Pathogenic Variant Detected
One or more disease-causing mutations were identified in the BCAT2 gene, confirming a diagnosis of branched-chain aminotransferase 2 deficiency. Carrier testing of parents and at-risk family members is recommended. Early dietary management and supportive therapy should be initiated under the guidance of a metabolic disease specialist.
Variant of Uncertain Significance (VUS) Detected
A genetic change in the BCAT2 gene was identified, but current evidence is insufficient to classify it as pathogenic or benign. Further studies including parental testing, functional assays, and clinical correlation are recommended. Repeat analysis may be considered as more data becomes available.
Consult your physician or a genetic counsellor if the test results indicate pathogenic variants in the BCAT2 gene, if a variant of uncertain significance is detected, or if clinical symptoms persist despite a negative result. Families with a confirmed diagnosis should seek ongoing management from a metabolic disease specialist for dietary guidance and monitoring.
Limitations
- ⚠This test is specific to the BCAT2 gene and does not screen for mutations in other genes associated with branched-chain amino acid metabolism disorders
- ⚠Large genomic rearrangements, copy number variations, or deep intronic mutations may not be fully detected by standard NGS methodology
- ⚠Variants of uncertain significance (VUS) may be identified, requiring further clinical correlation and family studies
- ⚠A negative result does not entirely exclude other genetic or non-genetic causes of the patient's symptoms
- ⚠Results may be affected by mosaicism at levels below the analytical sensitivity of the assay
Risks & Considerations
- ●Minor bruising, swelling, or discomfort at the blood draw site, which typically resolves within a few hours
- ●Minimal risk of infection at the puncture site (standard venipuncture precautions are followed)
- ●Potential psychological or emotional impact upon receiving genetic test results; genetic counselling is provided to support patients and families
Interfering Factors
- ●Prior bone marrow or stem cell transplantation may yield donor DNA rather than patient DNA, leading to inaccurate results
- ●Recent blood transfusion within the past 4 weeks may interfere with analysis
- ●Degraded or insufficient DNA quality may affect sequencing performance
Compare With Similar Tests
| Test | BCAT2 Gene Branched-chain aminotransferase 2 deficiency NGS Genetic Test | BCAT2 Gene NGS Genetic Test | Maple Syrup Urine Disease (MSUD) NGS Panel | Comprehensive Metabolic Disorder NGS Panel | Amino Acid Profile (Plasma) | Whole Exome Sequencing (WES) |
|---|---|---|---|---|---|---|
| Comparison | BCAT2 Gene Branched-chain aminotransferase 2 deficiency NGS Genetic Test |
Frequently Asked Questions
What is BCAT2 Gene Branched-chain Aminotransferase 2 Deficiency?
What does the NGS Genetic Test for BCAT2 measure?
Who should get tested for BCAT2 deficiency?
What sample is required for the BCAT2 Gene NGS Genetic Test?
How much does the BCAT2 Gene NGS Genetic Test cost in India?
Is home sample collection available for this test?
How long does it take to receive the results?
What are the symptoms of BCAT2 deficiency?
Is genetic counselling required before this test?
What happens if the test results are positive?
Is the BCAT2 Gene NGS Genetic Test covered by insurance?
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