PC Gene Pyruvate carboxylase deficiency NGS Genetic Test
Short Name: PC Gene NGS Test
Also known as: PC Gene Mutation Test, Pyruvate Carboxylase Deficiency DNA Test, PC Enzyme Deficiency Genetic Test, PC Gene Sequencing Test
PC Gene Pyruvate carboxylase deficiency NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Confirmation of Variants on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 Weeks from sample receipt at laboratory. 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 test is to identify pathogenic or likely pathogenic mutations in the PC gene that cause pyruvate carboxylase deficiency. It is used to confirm a clinical diagnosis, guide treatment decisions, enable carrier testing for family members, support prenatal or preimplantation genetic diagnosis in at-risk families, and provide information for genetic counselling regarding recurrence risk.
- Test Code
- 1801
- CPT Code
- 81479
- ICD Code
- E74.4
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 Weeks from sample receipt at laboratory
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Sanger Confirmation of Variants
Sample Collection
No special preparation is required. Ensure that a clinical history form and informed consent are completed. If the patient has had a recent blood transfusion, inform the laboratory. Genetic counselling is recommended prior to testing.
Method: Venipuncture / Finger-prick (FTA Card)
Laboratory Analysis
A trained phlebotomist will collect 3-5 mL of venous blood in an EDTA (lavender-top) tube via standard venipuncture technique. Alternatively, one drop of blood on an FTA card may be used. The sample will be labeled with patient identifiers and stored at ambient temperature for transport.
Report Delivery
The blood sample is transported to the DNA Labs India facility under controlled ambient conditions. DNA extraction, library preparation, and NGS sequencing are performed in a CLIA/NABL-accredited molecular genetics laboratory. Reports are delivered within 3 to 4 weeks.
Timeline: 3 to 4 Weeks from sample receipt at laboratory
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify pathogenic or likely pathogenic mutations in the PC gene that cause pyruvate carboxylase deficiency. It is used to confirm a clinical diagnosis, guide treatment decisions, enable carrier testing for family members, support prenatal or preimplantation genetic diagnosis in at-risk families, and provide information for genetic counselling regarding recurrence risk.
How to Prepare
- Collect 3-5 mL venous blood in an EDTA (lavender-top) tube
- Alternatively, apply one drop of blood onto the provided FTA card
- Do NOT use heparin (green-top) tubes as heparin inhibits PCR
- Label the sample clearly with patient name, date of birth, and sample ID
- Store and transport at ambient room temperature (15-30°C)
- Ship to laboratory within 48 hours of collection
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Pyruvate carboxylase deficiency is a serious inborn error of metabolism presenting with severe lactic acidosis, developmental delay, and neurological impairment in infancy. Early genetic confirmation through NGS testing of the PC gene allows timely initiation of supportive therapies, metabolic management, and accurate genetic counselling for affected families. I recommend this test for any infant or child presenting with unexplained metabolic acidosis, failure to thrive, and neurological regression."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample collected in heparin anticoagulant tube
- Clotted or hemolyzed blood sample
- Insufficient sample volume (less than 2 mL)
- Unlabeled or mislabeled specimen
- Sample older than 7 days at ambient temperature
Understanding Your Results
Pathogenic or Likely Pathogenic variant(s) detected (biallelic)
Confirms diagnosis of pyruvate carboxylase deficiency. Counselling and metabolic management should be initiated.
Pathogenic or Likely Pathogenic variant detected (single heterozygous)
Patient is a carrier. Additional testing (MLPA, parental studies) may be needed to identify a second variant.
Variant of Uncertain Significance (VUS) detected
The clinical significance is unknown at this time. Correlation with clinical findings, family studies, and functional data is recommended.
No pathogenic variants detected
PC gene mutations were not identified by this sequencing method. Does not entirely exclude PC deficiency if caused by deep intronic, regulatory, or CNV changes. Further clinical evaluation is advised.
Carrier status identified (for family screening)
Heterozygous carrier of a pathogenic variant. Risk to offspring should be discussed during genetic counselling.
Consult your physician or a clinical geneticist if your child presents with unexplained metabolic acidosis, developmental delay, poor feeding, seizures, or failure to thrive. If a family member has been diagnosed with pyruvate carboxylase deficiency, genetic counselling and carrier testing should be discussed. If test results return a VUS or unexpected finding, a genetic counsellor can help interpret the significance and guide next steps.
Limitations
- ⚠This test does not detect large deletions or duplications; MLPA or array CGH may be needed for CNV analysis
- ⚠Deep intronic variants, regulatory region mutations, and mitochondrial DNA variants are not covered
- ⚠Variants of uncertain significance (VUS) may be identified and may require further family studies or functional assays
- ⚠Negative result does not completely exclude pyruvate carboxylase deficiency if caused by variants in other regulatory genes
- ⚠Pseudogene interference or regions of high homology may result in gaps in coverage
Risks & Considerations
- ●Minor bruising or discomfort at the venipuncture site
- ●Risk of anxiety related to genetic test results (genetic counselling recommended pre- and post-test)
- ●Possibility of identifying variants of uncertain significance (VUS) which may cause confusion without proper counselling
- ●Potential psychosocial impact of carrier status or presymptomatic findings on the family
Interfering Factors
- ●Degraded or insufficient DNA quality may affect sequencing results
- ●Recent blood transfusion (within 4 weeks) may dilute patient's own DNA
- ●Contamination of sample during collection or transport
- ●Heparin anticoagulant (use EDTA instead, as heparin can inhibit PCR-based library preparation)
Compare With Similar Tests
| Test | PC Gene Pyruvate carboxylase deficiency NGS Genetic Test | |||
|---|---|---|---|---|
| Comparison | PC Gene Pyruvate carboxylase deficiency NGS Genetic Test |
Frequently Asked Questions
What is pyruvate carboxylase deficiency?
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Can this test be used for prenatal diagnosis?
What if the test result shows a Variant of Uncertain Significance (VUS)?
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