PC Gene Pyruvate carboxylase deficiency NGS Genetic Test
Short Name: PC Gene NGS Test
Also known as: PC Deficiency Test, Pyruvate Carboxylase Gene Analysis, PC Gene Sequencing
PC Gene Pyruvate carboxylase deficiency 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 after sample receipt.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 3, 2026
Overview
To diagnose Pyruvate Carboxylase Deficiency by identifying mutations in the PC gene using NGS technology, enabling early intervention and management.
- Test Code
- 2230
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks after sample receipt.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
Genetic counseling recommended. No specific preparation needed.
Method: Venipuncture
Laboratory Analysis
Blood sample will be drawn by a trained phlebotomist.
Report Delivery
Apply pressure to the puncture site to stop bleeding.
Timeline: 3 to 4 weeks after sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
To diagnose Pyruvate Carboxylase Deficiency by identifying mutations in the PC gene using NGS technology, enabling early intervention and management.
How to Prepare
- Ensure patient is hydrated
- Use sterile equipment
- Label sample correctly
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for pyruvate carboxylase deficiency enables early intervention, which is crucial for managing symptoms and improving outcomes."
Last medically reviewed: September 3, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed sample
- Incorrect labeling
- Sample leaked or contaminated
Understanding Your Results
If symptoms of developmental delay, seizures, or metabolic issues are present, or if there is a family history of the disorder.
Limitations
- ⚠May not detect all types of mutations
- ⚠Requires interpretation by a geneticist
- ⚠Does not predict disease severity accurately
Risks & Considerations
- ●Minimal risk from blood draw
- ●Bruising or infection at puncture site (rare)
Interfering Factors
- ●Contaminated or degraded DNA sample
- ●Insufficient sample volume
- ●Technical errors in sequencing
Compare With Similar Tests
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Frequently Asked Questions
What is Pyruvate Carboxylase Deficiency?
What are the symptoms of this condition?
How is the NGS Genetic Test performed?
What is the cost of the test?
Is home sample collection available?
How long does it take to get results?
What does a positive test result mean?
Is genetic counseling required before testing?
Can the test be done on children?
What are the treatment options after diagnosis?
How accurate is the NGS Genetic Test?
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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✓ 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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