C12ORF65 Gene Combined oxidative phosphorylation deficiency type 7 NGS Genetic Test
Short Name: C12ORF65 Gene COXPD7 NGS Test
Also known as: Combined Oxidative Phosphorylation Deficiency Type 7, COXPD7
C12ORF65 Gene Combined oxidative phosphorylation deficiency type 7 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) 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 Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of this test is to diagnose Combined Oxidative Phosphorylation Deficiency Type 7 (COXPD7) by detecting mutations in the C12ORF65 gene using Next-Generation Sequencing technology. It aids in confirming clinical symptoms, guiding treatment decisions, and providing genetic counseling for affected individuals and families.
- Test Code
- 1944
- 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
- Next-Generation Sequencing (NGS)
Sample Collection
Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with COXPD7 are required before sample collection.
Method: Blood Draw
Laboratory Analysis
A blood sample is collected via venipuncture or a drop of blood on an FTA card.
Report Delivery
The sample is processed and analyzed using NGS technology in the laboratory.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to diagnose Combined Oxidative Phosphorylation Deficiency Type 7 (COXPD7) by detecting mutations in the C12ORF65 gene using Next-Generation Sequencing technology. It aids in confirming clinical symptoms, guiding treatment decisions, and providing genetic counseling for affected individuals and families.
How to Prepare
- Provide detailed clinical history
- Attend genetic counseling session
- No fasting required
- Sample can be blood, extracted DNA, or blood on FTA card
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Genetic testing for COXPD7 is essential for confirming diagnosis and guiding treatment. Early detection can help in managing symptoms and providing genetic counseling to families."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Understanding Your Results
Consult a doctor if you or a family member experience symptoms of COXPD7, such as muscle weakness, developmental delays, or seizures, or for genetic counseling after test results.
Risks & Considerations
- ●Minor bruising at the blood draw site
- ●Minimal infection risk
Frequently Asked Questions
What is C12ORF65 Gene COXPD7 NGS Genetic Test?
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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.
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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