ACSF3 Gene Combined malonic and methylmalonic aciduria NGS Genetic Test
Short Name: ACSF3 Genetic Test
Also known as: ACSF3 deficiency, Combined malonic and methylmalonic aciduria type 2
ACSF3 Gene Combined malonic and methylmalonic aciduria 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 Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of this test is to identify mutations in the ACSF3 gene to diagnose Combined Malonic and Methylmalonic Aciduria, guide treatment decisions, and facilitate genetic counseling for affected families.
- Test Code
- 4655
- Price
- ₹20,000
- Sample Type
- Blood
- Result Time
- 3 to 4 Weeks
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
A genetic counseling session is recommended to discuss family history and test implications.
Method: Venipuncture
Laboratory Analysis
Blood sample is collected via venipuncture from a vein in the arm.
Report Delivery
The sample is labeled and sent to the laboratory for NGS analysis.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify mutations in the ACSF3 gene to diagnose Combined Malonic and Methylmalonic Aciduria, guide treatment decisions, and facilitate genetic counseling for affected families.
How to Prepare
- No fasting required prior to sample collection
- Bring valid ID and doctor's prescription
- Inform the phlebotomist about any medications or recent transfusions
- Ensure the sample is collected in a sterile EDTA tube
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"This genetic test is vital for early diagnosis and management of combined aciduria, aiding in family planning and targeted therapy."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted sample
- Insufficient sample volume
- Incorrectly labeled or unlabeled sample
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of ACSF3-related Combined Malonic and Methylmalonic Aciduria. Genetic counseling and metabolic management are advised.
No pathogenic variant detected
Unlikely to have ACSF3-related disorder, but clinical correlation is necessary. Consider other genetic or metabolic causes.
Variant of uncertain significance (VUS)
Further testing or family studies may be required. Consult a genetic counselor for guidance.
Consult a doctor if symptoms such as developmental delays, seizures, or metabolic acidosis persist, or if there is a family history of similar disorders.
Limitations
- ⚠May not detect all types of genetic variants (e.g., large deletions/duplications)
- ⚠Requires correlation with clinical symptoms and biochemical tests
- ⚠Genetic counseling is recommended for interpretation
Risks & Considerations
- ●Minimal risk from blood draw (bruising, infection)
- ●Psychological impact of genetic results on patient and family
Interfering Factors
- ●Sample contamination or degradation
- ●Inadequate DNA quality or quantity
- ●Recent blood transfusion may affect results
Compare With Similar Tests
| Test | ACSF3 Gene Combined malonic and methylmalonic aciduria NGS Genetic Test | Methylmalonic Acid Test | Organic Acids Test | Whole Exome Sequencing |
|---|---|---|---|---|
| Comparison | ACSF3 Gene Combined malonic and methylmalonic aciduria NGS Genetic Test |
Frequently Asked Questions
What is ACSF3 Gene Combined Malonic and Methylmalonic Aciduria?
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