ACACA Gene Acetyl-CoA carboxylase deficiency NGS Genetic Test
Short Name: ACACA Gene NGS Test
Also known as: ACACA deficiency, Acetyl-CoA Carboxylase Deficiency
ACACA Gene Acetyl-CoA carboxylase deficiency NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood 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
The purpose of the ACACA Gene NGS Genetic Test is to diagnose Acetyl-CoA carboxylase deficiency by identifying mutations in the ACACA gene. This test helps confirm the diagnosis, guide treatment decisions, enable genetic counseling for families, and facilitate early intervention to manage symptoms and prevent metabolic crises.
- Test Code
- 1866
- Price
- ₹20,000
- Sample Type
- Blood
- Result Time
- 3 to 4 Weeks
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. Provide a detailed clinical history and family pedigree chart if available.
Method: Venipuncture
Laboratory Analysis
A healthcare professional will collect a blood sample via venipuncture from a vein in the arm.
Report Delivery
Apply pressure to the site to prevent bleeding. You may resume normal activities immediately.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the ACACA Gene NGS Genetic Test is to diagnose Acetyl-CoA carboxylase deficiency by identifying mutations in the ACACA gene. This test helps confirm the diagnosis, guide treatment decisions, enable genetic counseling for families, and facilitate early intervention to manage symptoms and prevent metabolic crises.
How to Prepare
- Ensure patient identification is accurate.
- Use aseptic technique for blood draw.
- Label the sample correctly with patient details.
- Transport the sample at ambient room temperature.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic testing for ACACA deficiency is crucial for timely management, dietary interventions, and family counseling to prevent complications and improve outcomes."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample hemolysis or clotted
- Incorrect labeling or insufficient volume
- Sample contaminated or leaking
- Unlabeled or mismatched request form
Understanding Your Results
Negative
No pathogenic variants identified in the ACACA gene. Clinical symptoms may be due to other causes.
Positive
Pathogenic or likely pathogenic variants detected, confirming Acetyl-CoA carboxylase deficiency. Genetic counseling and management should be initiated.
Variant of Uncertain Significance (VUS)
A variant was found, but its clinical significance is unclear. Further testing and family studies may be needed.
Consult a doctor if the test result is positive or if symptoms such as seizures, developmental delays, or poor feeding persist. Genetic counseling is recommended for families with a history of metabolic disorders.
Limitations
- ⚠May not detect all genetic variants, including deep intronic or regulatory mutations
- ⚠Variants of uncertain significance (VUS) may be reported, requiring further evaluation
- ⚠Does not assess other genes or metabolic disorders
- ⚠Results are for diagnostic purposes and should be correlated with clinical findings
Risks & Considerations
- ●Minor bruising or pain at the blood draw site
- ●Rare risk of infection or fainting
- ●Minimal risk of hematoma
Interfering Factors
- ●Sample contamination or degradation
- ●Insufficient DNA quantity
- ●Previous blood transfusions within 4 weeks
- ●Hemolysis or lipemia in the blood sample
Compare With Similar Tests
| Test | ACACA Gene Acetyl-CoA carboxylase deficiency NGS Genetic Test | Whole Exome Sequencing | Organic Acids Test |
|---|---|---|---|
| Comparison | ACACA Gene Acetyl-CoA carboxylase deficiency NGS Genetic Test |
Frequently Asked Questions
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