ACAD9 Gene Leigh syndrome and mitochondrial encephalopathy NGS Genetic Test
Short Name: ACAD9 NGS Genetic Test
Also known as: ACAD9 Gene Mutation Analysis, Leigh Syndrome NGS Genetic Test, Mitochondrial Encephalopathy Gene Test
ACAD9 Gene Leigh syndrome and mitochondrial encephalopathy NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing 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 this NGS genetic test is to identify pathogenic mutations in the ACAD9 gene associated with Leigh syndrome and mitochondrial encephalopathy. This test provides a definitive molecular diagnosis and supports clinical management, genetic counselling, and reproductive planning.
- Test Code
- 4177
- Price
- ₹20,000
- Sample Type
- Blood
- Result Time
- 3 to 4 Weeks
- Fasting Required
- No
- Method
- Next Generation Sequencing
Sample Collection
No fasting is required. A genetic counselling session prior to testing is recommended to review the risks and benefits. Inform your physician about any medications and supplements you are taking.
Method: Peripheral blood collection
Laboratory Analysis
A phlebotomist will collect a blood sample from a vein in your arm. The procedure takes less than 5 minutes.
Report Delivery
You may resume all normal activities immediately after the blood draw. Keep the pressure bandage on for a few hours.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to identify pathogenic mutations in the ACAD9 gene associated with Leigh syndrome and mitochondrial encephalopathy. This test provides a definitive molecular diagnosis and supports clinical management, genetic counselling, and reproductive planning.
How to Prepare
- Complete the requisition form and patient consent.
- Provide a valid ID and prescription from the referring physician.
- Sample should be collected in an EDTA vacutainer.
- Label the tube with the patient's full name and date of birth.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic diagnosis of ACAD9-related disorders can significantly influence management, allowing for anticipatory care of neurological and cardiac complications. A multidisciplinary approach involving neurology, metabolic medicine, and cardiology is essential."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted sample
- Insufficient quantity of blood
- Incorrect container used (e.g., heparin tube)
- Sample exposed to extreme temperatures
Understanding Your Results
If you or your child have been diagnosed with Leigh syndrome or mitochondrial encephalopathy, or if you have a family history of ACAD9-related conditions, consult a clinical geneticist or neurologist to discuss genetic testing. Additionally, if you experience symptoms such as unexplained seizures, developmental regression, muscle weakness, or respiratory difficulty, seek medical evaluation promptly.
Limitations
- ⚠This test does not evaluate all genes associated with Leigh syndrome or mitochondrial encephalopathy.
- ⚠Variants in non-coding regions may not be detected.
- ⚠Mitochondrial DNA (mtDNA) mutations are not screened with this nuclear gene test.
- ⚠A variant of uncertain significance may be reported; follow-up genetic counselling is advised.
Risks & Considerations
- ●Bruising at the site
- ●Lightheadedness
- ●Infection (rare)
Interfering Factors
- ●Contamination of blood sample
- ●High degree of DNA degradation
- ●Mosaicism may not be detected
- ●Large deletions or duplications may require additional testing
Frequently Asked Questions
What is the ACAD9 gene Leigh syndrome and mitochondrial encephalopathy NGS genetic test?
What conditions does this test detect?
Who should consider this test?
What sample is required?
Is fasting required?
How long do the results take?
Is home sample collection available?
What is the cost of the test?
How will I receive my report?
Are there any risks with the test?
Can this test detect all types of mitochondrial disorders?
Will my insurance cover the test?
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We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.
Your Data Privacy
Your medical data is protected under Indian law.
✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.
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