PCK1 Gene Phosphoenolpyruvate carboxykinase deficiency, cytosolic NGS Genetic Test
Short Name: PCK1 Gene NGS Test
Also known as: PEPCK Deficiency, Cytosolic PEPCK Deficiency, PCK1 Deficiency, Phosphoenolpyruvate Carboxykinase 1 Deficiency, PEPCK-C Deficiency
PCK1 Gene Phosphoenolpyruvate carboxykinase deficiency, cytosolic NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Confirmation (if required) on Blood or Extracted DNA or One Drop Blood on FTA Card samples. Results in Results are available within 3 to 4 weeks from the date of sample receipt at the DNA Labs India 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 PCK1 Gene NGS Genetic Test is performed to identify pathogenic mutations in the PCK1 gene that cause cytosolic phosphoenolpyruvate carboxykinase deficiency. This test serves the following purposes: confirm a suspected clinical diagnosis of PEPCK deficiency in symptomatic individuals; identify carriers of PCK1 mutations in families with a known history of the disorder; enable informed genetic counseling and family planning for at-risk couples; support prenatal or preimplantation genetic diagnosis in confirmed carrier families; and contribute to the differential diagnosis of unexplained hypoglycemia and lactic acidosis in neonates and infants.
- Test Code
- 2220
- ICD Code
- E74.4
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One Drop Blood on FTA Card
- Result Time
- Results are available within 3 to 4 weeks from the date of sample receipt at the DNA Labs India laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Sanger Confirmation (if required)
Sample Collection
No special preparation such as fasting is required. Provide complete clinical history and family pedigree information to the laboratory or genetic counselor. A genetic counseling session is recommended before testing to understand the implications of the results. Inform the laboratory of any recent blood transfusions or bone marrow transplants.
Method: Venipuncture / Finger Prick (FTA Card)
Laboratory Analysis
A venous blood sample (3-5 mL) will be collected in an EDTA vacutainer by a trained phlebotomist. Alternatively, a single drop of blood on an FTA card may be used. The procedure is similar to a routine blood draw and typically takes less than 5 minutes.
Report Delivery
Apply gentle pressure to the puncture site with a cotton ball or bandage for 2-3 minutes. The sample will be transported under controlled conditions to the DNA Labs India laboratory for processing. Results will be available in 3 to 4 weeks via online portal, email, or WhatsApp.
Timeline: Results are available within 3 to 4 weeks from the date of sample receipt at the DNA Labs India laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The PCK1 Gene NGS Genetic Test is performed to identify pathogenic mutations in the PCK1 gene that cause cytosolic phosphoenolpyruvate carboxykinase deficiency. This test serves the following purposes: confirm a suspected clinical diagnosis of PEPCK deficiency in symptomatic individuals; identify carriers of PCK1 mutations in families with a known history of the disorder; enable informed genetic counseling and family planning for at-risk couples; support prenatal or preimplantation genetic diagnosis in confirmed carrier families; and contribute to the differential diagnosis of unexplained hypoglycemia and lactic acidosis in neonates and infants.
How to Prepare
- Ensure the sample is collected in an EDTA (lavender top) vacutainer or onto an FTA card.
- Label the sample clearly with the patient's full name, date of birth, and unique identification number.
- Store the whole blood sample at 2-8°C if not processed immediately.
- Do not freeze whole blood samples.
- If using an FTA card, allow the blood spot to air dry completely before packaging.
- Include a completed test requisition form with clinical history and family pedigree information.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Phosphoenolpyruvate carboxykinase deficiency is a rare inborn error of metabolism that can present with severe hypoglycemia and lactic acidosis in neonates and infants. In families with a history of metabolic disorders or consanguinity, I recommend genetic counseling and PCK1 gene testing as part of preconception or prenatal planning. Early identification of carriers allows informed family planning decisions and enables timely neonatal intervention if an affected child is born."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed, clotted, or severely lipemic samples
- Samples collected in incorrect anticoagulant such as heparin or citrate
- Insufficient sample volume (less than 1 mL of whole blood)
- Samples without proper labeling or patient identification
- Samples received after the stability period has expired
- Samples submitted without a completed test requisition form
Understanding Your Results
No Pathogenic Variant Detected
No disease-causing variants were identified in the coding region and intron-exon boundaries of the PCK1 gene. This result significantly reduces the likelihood of PCK1-related PEPCK deficiency but does not completely exclude it if mutations lie outside the tested region or in other genes.
Action: Correlate with clinical findings and biochemical markers. Consider expanded metabolic gene panels or whole exome sequencing if clinical suspicion remains high.
Pathogenic or Likely Pathogenic Variant(s) Detected
One or more disease-causing variants were identified. Homozygous or compound heterozygous pathogenic variants confirm the diagnosis of PCK1-related PEPCK deficiency. A single heterozygous pathogenic variant indicates carrier status for the condition.
Action: Confirm diagnosis with biochemical testing including lactate, glucose, and a full metabolic panel. Initiate or continue genetic counseling. Consider cascade genetic testing for at-risk family members.
Variant of Uncertain Significance (VUS) Detected
A variant was identified in the PCK1 gene whose clinical significance is currently unknown based on available evidence. This variant may or may not be responsible for the disease phenotype.
Action: Do not use this result alone for clinical decision-making. Recommend parental testing to assess segregation, request functional studies if available, or plan for periodic variant reanalysis as new data emerges. Continue clinical and biochemical monitoring of the patient.
Consult a doctor immediately if your child or family member shows symptoms such as persistent low blood sugar (hypoglycemia), unexplained lactic acidosis, seizures, developmental delay, hepatomegaly, failure to thrive, jaundice, or low blood pressure. If there is a known family history of PEPCK deficiency or related metabolic disorders, consult a genetic counselor or metabolic specialist for carrier screening, family planning guidance, and potential prenatal genetic testing options.
Limitations
- ⚠This test does not detect deep intronic variants, regulatory region mutations, or mitochondrial DNA variants.
- ⚠Novel variants may be classified as Variants of Uncertain Significance (VUS) and may require further family studies or functional assays for definitive classification.
- ⚠Large structural rearrangements or complex genomic events may not be fully characterized by NGS alone.
- ⚠A negative result does not completely exclude PEPCK deficiency if caused by mutations in other genes (such as PCK2) or non-genetic mechanisms.
- ⚠Genotype-phenotype correlation may not always be straightforward due to variable expressivity and incomplete penetrance in some cases.
Risks & Considerations
- ●Psychological and emotional impact, Receiving genetic test results, particularly a positive or uncertain diagnosis, may cause emotional distress, anxiety, or guilt. Genetic counseling before and after testing helps mitigate these concerns.
- ●Implications for family members, Genetic results may reveal carrier status or genetic risk in other family members, which has implications for reproductive planning and may cause familial stress.
- ●Identification of Variants of Uncertain Significance (VUS), A VUS result may create uncertainty without providing a clear diagnosis, potentially requiring further investigation and periodic reanalysis over time.
- ●Minimal physical risk from blood draw, The venipuncture procedure carries minimal physical risks such as slight bruising, mild discomfort at the puncture site, or very rarely, fainting.
Interfering Factors
- ●Degraded or insufficient DNA quality from the sample, May compromise sequencing results and require repeat sample collection
- ●Contamination of the sample during collection, transport, or processing, May produce inconclusive or inaccurate results
- ●Recent blood transfusion within 7 days prior to sample collection, May interfere with detection of the patient's own DNA variants
Compare With Similar Tests
| Test | PCK1 Gene Phosphoenolpyruvate carboxykinase deficiency, cytosolic NGS Genetic Test | Sanger Sequencing of PCK1 Gene | Whole Exome Sequencing (WES) | Newborn Metabolic Screening |
|---|---|---|---|---|
| Comparison | PCK1 Gene Phosphoenolpyruvate carboxykinase deficiency, cytosolic NGS Genetic Test | Sanger sequencing targets specific known exons and is suitable for confirming a known familial variant. NGS provides comprehensive coverage of the entire gene including all exons and flanking regions, and is more cost-effective for full gene analysis when the causative variant is unknown. | WES analyzes all approximately 20,000 protein-coding genes simultaneously and is useful when the genetic cause of a condition is unknown. The PCK1-targeted NGS test is more focused, provides faster turnaround, and is more affordable when PEPCK deficiency is clinically suspected. | Newborn metabolic screening uses biochemical markers such as blood glucose and lactate to detect metabolic disorders. It does not identify the specific genetic cause. The PCK1 NGS test provides definitive molecular confirmation and is important for precise diagnosis and family planning. |
Frequently Asked Questions
What is PCK1 gene phosphoenolpyruvate carboxykinase deficiency?
What are the symptoms of PCK1 gene PEPCK deficiency?
How is PCK1 deficiency diagnosed?
What sample is required for the PCK1 NGS Genetic Test?
How long does it take to get the results of the PCK1 NGS Genetic Test?
What is the cost of the PCK1 Gene NGS Genetic Test?
Is genetic counseling required before taking the PCK1 NGS Genetic Test?
Can the PCK1 NGS Genetic Test detect carrier status?
Is the PCK1 NGS Genetic Test available for prenatal diagnosis?
Is free home sample collection available for the PCK1 Gene NGS Genetic Test?
What should I do if the PCK1 NGS Genetic Test results are positive?
Does DNA Labs India provide raw data files along with the test report?
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