PCK2 Gene Phosphoenolpyruvate carboxykinase deficiency, mitochondrial NGS Genetic Test
Short Name: PCK2 Gene Test
Also known as: PEPCK deficiency, Mitochondrial PEPCK deficiency
PCK2 Gene Phosphoenolpyruvate carboxykinase deficiency, mitochondrial 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 Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of this test is to identify mutations in the PCK2 gene using next-generation sequencing (NGS) to confirm a diagnosis of phosphoenolpyruvate carboxykinase deficiency. It helps in understanding the genetic basis of symptoms, guiding treatment, and informing family planning through carrier testing.
- Test Code
- 2208
- 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
Provide clinical history of the patient and undergo genetic counseling to draw a pedigree chart of family members affected with phosphoenolpyruvate carboxykinase deficiency. No specific dietary restrictions.
Method: Venipuncture or DNA extraction from blood
Laboratory Analysis
Blood sample is collected via standard venipuncture procedure. For FTA card, a single drop of blood is applied.
Report Delivery
Sample is labeled, stored at ambient temperature, and transported to the lab for DNA extraction and sequencing.
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 PCK2 gene using next-generation sequencing (NGS) to confirm a diagnosis of phosphoenolpyruvate carboxykinase deficiency. It helps in understanding the genetic basis of symptoms, guiding treatment, and informing family planning through carrier testing.
How to Prepare
- Ensure proper identification of the patient.
- Use sterile collection tubes or FTA cards.
- Store samples at room temperature and avoid hemolysis.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"This test is essential for diagnosing rare mitochondrial disorders, guiding management in patients with symptoms like hypoglycemia or developmental delays."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Incorrect labeling or missing patient information
Understanding Your Results
Consult a doctor if the test results are positive, if symptoms persist despite negative results, or for genetic counseling regarding family risk.
Limitations
- ⚠May not detect all types of genetic variants, such as large deletions or duplications
- ⚠Variants of uncertain significance (VUS) may be identified, requiring further evaluation
- ⚠Does not assess other genes or conditions not included in the panel
Risks & Considerations
- ●Minimal risk from blood draw (e.g., bruising, infection)
- ●Psychological impact of genetic results, requiring counseling support
Interfering Factors
- ●Poor sample quality (e.g., degraded DNA)
- ●Contamination during sample collection or processing
- ●Recent blood transfusion may affect DNA analysis
Frequently Asked Questions
What is the PCK2 Gene Phosphoenolpyruvate carboxykinase deficiency test?
What are the symptoms of PCK2 deficiency?
How is the test performed?
What is the cost of this test?
Is fasting required for this test?
How long does it take to get results?
What sample type is needed?
Is home sample collection available?
What does a positive result mean?
Can this test detect other genetic conditions?
Do I need genetic counseling before testing?
Is the test covered by insurance?
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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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