ACADM Gene Acyl-CoA medium-chain dehydrogenase deficiency NGS Genetic Test
Short Name: ACADM Gene NGS Test
Also known as: MCADD, Medium-Chain Acyl-CoA Dehydrogenase Deficiency, ACADM Deficiency
ACADM Gene Acyl-CoA medium-chain dehydrogenase deficiency NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood samples. Results in 3-4 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 the ACADM Gene NGS Genetic Test is to diagnose Acyl-CoA Medium-Chain Dehydrogenase Deficiency (MCADD) by identifying mutations in the ACADM gene. This test confirms suspected cases based on symptoms or family history, guides treatment strategies such as dietary adjustments, enables family screening and carrier testing, and supports research into metabolic disorders. It is essential for preventing life-threatening metabolic episodes through early intervention.
- Test Code
- 1875
- Price
- ₹20,000
- Sample Type
- Blood
- Result Time
- 3-4 Weeks
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No specific preparation is required. Inform your healthcare provider about any medications, health conditions, or prior genetic tests. Genetic counseling is advised before testing.
Method: Venipuncture
Laboratory Analysis
A trained phlebotomist will collect a blood sample via venipuncture from a vein in the arm. The process 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 avoid heavy lifting for a few hours.
Timeline: 3-4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the ACADM Gene NGS Genetic Test is to diagnose Acyl-CoA Medium-Chain Dehydrogenase Deficiency (MCADD) by identifying mutations in the ACADM gene. This test confirms suspected cases based on symptoms or family history, guides treatment strategies such as dietary adjustments, enables family screening and carrier testing, and supports research into metabolic disorders. It is essential for preventing life-threatening metabolic episodes through early intervention.
How to Prepare
- Wear comfortable clothing with easy access to the arm
- Stay hydrated before the test
- Avoid strenuous physical activity immediately after collection
- Follow any specific instructions from the testing facility
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Early diagnosis through genetic testing is key to managing ACMD and preventing life-threatening episodes. This test helps in timely intervention and family counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted sample
- Insufficient sample volume
- Improperly labeled or contaminated container
Understanding Your Results
Consult a doctor immediately if you or a family member experience symptoms such as persistent hypoglycemia, unexplained fatigue, vomiting, seizures, or muscle weakness, especially during fasting or illness. Early consultation can prevent complications.
Limitations
- ⚠May not detect all genetic variants, including deep intronic mutations
- ⚠Results require clinical correlation and are not standalone diagnostic
- ⚠Not recommended for population screening without clinical indication
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising, pain, or infection at the puncture site
- ●Rare allergic reaction to antiseptic used
Interfering Factors
- ●Sample contamination
- ●Degraded DNA due to improper handling
- ●Technical errors in sequencing or data analysis
Compare With Similar Tests
| Test | ACADM Gene Acyl-CoA medium-chain dehydrogenase deficiency NGS Genetic Test | VLCAD Gene Test | LCHAD Gene Test | Newborn Screening Panel | Organic Acids Test |
|---|---|---|---|---|---|
| Comparison | ACADM Gene Acyl-CoA medium-chain dehydrogenase deficiency NGS Genetic Test | Diagnoses Very Long-Chain Acyl-CoA Dehydrogenase Deficiency, a different fatty acid oxidation disorder. | Targets Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency, another related metabolic condition. | Includes MCADD screening but may not provide genetic confirmation; this test offers detailed mutation analysis. | Detects metabolic byproducts in urine; complementary to genetic testing for metabolic disorders. |
Frequently Asked Questions
What is the ACADM Gene NGS Genetic Test?
Who should get this test done?
How is the test performed?
What are the common symptoms of MCADD?
What is the cost of the ACADM Gene Test in India?
Is home sample collection available for this test?
How long does it take to get the test results?
What does a positive test result mean?
Can MCADD be treated after diagnosis?
Is the test covered by insurance in India?
How accurate is the NGS-based genetic test?
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