BCKDK Gene Branched-chain ketoacid dehydrogenase kinase deficiency NGS Genetic Test
Short Name: BCKDK Gene NGS Test
Also known as: BCKDK deficiency, Maple syrup urine disease type 3
BCKDK Gene Branched-chain ketoacid dehydrogenase kinase deficiency NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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 diagnose BCKDK gene deficiency, identify pathogenic mutations, and guide clinical management, genetic counseling, and family planning.
- Test Code
- 1898
- 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
- NGS Technology
Sample Collection
No special preparation is needed. Genetic counseling session is recommended to discuss family history and test implications.
Method: Venipuncture or finger prick
Laboratory Analysis
A blood sample will be drawn from a vein in the arm or via a finger prick for FTA card collection. The procedure is quick and minimally invasive.
Report Delivery
Apply 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 diagnose BCKDK gene deficiency, identify pathogenic mutations, and guide clinical management, genetic counseling, and family planning.
How to Prepare
- Ensure the sample is collected in a sterile environment.
- For blood samples, use an EDTA tube and label correctly.
- For FTA card, apply one drop of blood and let it dry completely.
- Store and transport samples at ambient room temperature.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This test is recommended for individuals with symptoms of BCKDK deficiency or a family history of the disorder. Early diagnosis can guide management and genetic counseling for families."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Insufficient sample volume
- Improperly labeled or contaminated samples
- Samples stored at incorrect temperatures
Understanding Your Results
Normal
No pathogenic variants detected in the BCKDK gene. This reduces the likelihood of BCKDK deficiency but does not rule out other causes of symptoms.
Action: Consult with a healthcare provider for further evaluation if symptoms persist.
Abnormal
Pathogenic or likely pathogenic variants identified in the BCKDK gene, confirming diagnosis of BCKDK deficiency.
Action: Immediate referral to a metabolic specialist or geneticist for management, treatment, and family screening.
If you or a family member experience symptoms such as developmental delay, seizures, or movement issues, or if there is a known family history of BCKDK deficiency, consult a healthcare provider for genetic testing and counseling.
Limitations
- ⚠May not detect all types of mutations, such as large deletions or rearrangements
- ⚠Results require interpretation by a genetic counselor or specialist
- ⚠Test does not assess for other genetic disorders unless specified
Risks & Considerations
- ●Minor bruising or discomfort at the blood draw site
- ●Emotional impact of genetic test results
- ●Very low risk of infection at puncture site
Interfering Factors
- ●Sample contamination or degradation
- ●Insufficient DNA quality or quantity
- ●Recent blood transfusions may affect DNA analysis
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Frequently Asked Questions
What is BCKDK gene deficiency?
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