ELAC2 Gene Combined oxidative phosphorylation deficiency type 17 NGS Genetic Test
Short Name: ELAC2 Gene NGS Test
Also known as: ELAC2-related combined oxidative phosphorylation deficiency, COXPD17
ELAC2 Gene Combined oxidative phosphorylation deficiency type 17 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 mutations in the ELAC2 gene associated with combined oxidative phosphorylation deficiency type 17, enabling early intervention and personalized management.
- Test Code
- 4662
- 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 specific preparation required. Provide clinical history and family pedigree chart.
Laboratory Analysis
Blood sample collected via venipuncture or use of FTA card for one drop blood.
Report Delivery
Apply pressure to the puncture site to prevent bruising. Resume normal activities.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
To diagnose mutations in the ELAC2 gene associated with combined oxidative phosphorylation deficiency type 17, enabling early intervention and personalized management.
How to Prepare
- Ensure proper identification of the patient
- Use sterile collection equipment
- Label samples correctly with patient details
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This test is crucial for diagnosing rare metabolic disorders and guiding personalized treatment plans for affected individuals."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Incorrectly labeled samples
- Insufficient sample volume
Understanding Your Results
Positive for pathogenic mutation
Confirms diagnosis of combined oxidative phosphorylation deficiency type 17. Genetic counseling and management recommended.
Negative for pathogenic mutation
No mutations detected in the ELAC2 gene. Consider other genetic or metabolic disorders if symptoms persist.
Variant of uncertain significance
Further testing or family studies may be needed for clarification.
Consult a geneticist or specialist if you experience symptoms such as unexplained fatigue, developmental delays, seizures, or have a family history of metabolic disorders.
Limitations
- ⚠May not detect all possible mutations in the ELAC2 gene
- ⚠Requires genetic counseling for interpretation
- ⚠Results should be correlated with clinical symptoms
Risks & Considerations
- ●Minor pain or bruising at the blood draw site
- ●Very low risk of infection
Interfering Factors
- ●Poor sample quality or contamination
- ●Insufficient DNA quantity
- ●Recent blood transfusions
Frequently Asked Questions
What is ELAC2 Gene Combined Oxidative Phosphorylation Deficiency Type 17?
What are the symptoms of this disorder?
How is the ELAC2 Gene NGS Genetic Test performed?
What is the cost of the test?
Is home sample collection available?
How long does it take to get results?
Do I need to fast before the test?
What does a positive result mean?
Is genetic counseling recommended?
Can this test be done for children?
Is the test covered by insurance?
What should I do if I have a family history of this disorder?
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Reference Laboratory Services
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.
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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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