Skip to main content
DNA Labs India

PC Gene Leigh syndrome due to pyruvate carboxylase deficiency NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

PC Gene Leigh syndrome due to pyruvate carboxylase deficiency NGS Genetic Test

Short Name: PC Gene Leigh Syndrome NGS

Also known as: PC gene sequence analysis, Pyruvate carboxylase deficiency NGS panel, Leigh syndrome PC gene test

PC Gene Leigh syndrome due to 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 Reports are generally issued within 3 to 4 weeks after sample receipt. Additional time may be required for parental segregation studies or interpretation of variants of uncertain significance.. Free home collection in 300+ cities across India.

NGS Genetic TestInfants, Children and Adults🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To identify pathogenic variants in the PC gene associated with pyruvate carboxylase deficiency, confirm a molecular diagnosis of Leigh syndrome, guide clinical management, calculate recurrence risk and support informed genetic counselling.

Test Code
4186
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are generally issued within 3 to 4 weeks after sample receipt. Additional time may be required for parental segregation studies or interpretation of variants of uncertain significance.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. Please carry any previous biochemical, neuroimaging, and family history information. A genetic counselling session and written informed consent are recommended before testing.

Method: Peripheral venous blood collection or dried blood spot on FTA card

Step 2

Laboratory Analysis

A simple blood sample is collected from a vein by a trained phlebotomist, or a blood spot may be placed on an FTA card for home or remote collection.

Step 3

Report Delivery

No post-test restrictions are needed. The sample is sent to the laboratory for DNA extraction, targeted NGS, variant analysis, and clinical report generation.

Timeline: Reports are generally issued within 3 to 4 weeks after sample receipt. Additional time may be required for parental segregation studies or interpretation of variants of uncertain significance.

Patient Instructions

1
Before the Test:No fasting is needed. Discuss clinical history and family pedigree with your doctor. Written informed consent is recommended before genetic testing.
2
During the Test:A blood sample will be collected from a vein, or a spot of blood will be placed on an FTA card. The process takes only a few minutes.
3
After the Test:You can resume routine activities immediately. The sample is sent to the laboratory for DNA extraction, enrichment, NGS, and variant interpretation. Reports are available in 3-4 weeks.

About This Test

Who Should Get This Test

To identify pathogenic variants in the PC gene associated with pyruvate carboxylase deficiency, confirm a molecular diagnosis of Leigh syndrome, guide clinical management, calculate recurrence risk and support informed genetic counselling.

How to Prepare

  • For home collection, the phlebotomist will collect blood in an EDTA tube or prepare an FTA card.
  • If submitting extracted DNA, store and transport it in a labelled DNase-free tube.
  • Ensure the sample is labelled with patient name, date of birth, and collection date.

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"In suspected metabolic encephalopathy, early genetic confirmation helps guide management and family counselling. The PC gene NGS test provides a definitive molecular basis for a complex neurological presentation."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
ContainerEDTA tube / FTA card / DNA storage tube
Collection MethodPeripheral venous blood collection or dried blood spot on FTA card

Sample Stability

Sample Rejection Criteria:
  • Unlabelled or mislabelled specimen
  • Sample collected in heparin tube instead of EDTA tube
  • Inadequate or improperly dried FTA blood spot
  • Leaking or improperly packaged sample

Understanding Your Results

The result should be interpreted by a clinical geneticist in the context of clinical, biochemical, and imaging findings. Variants are classified according to ACMG guidelines. A pathogenic or likely pathogenic variant in the PC gene confirms the diagnosis; a negative result does not exclude Leigh syndrome due to other genes.
📊

Pathogenic or likely pathogenic variant identified

Action: Refer to metabolic specialist and provide genetic counselling for the family.

📊

Variant of uncertain significance identified

Action: Consider parental segregation studies, additional testing, and follow-up genetic counselling.

📊

No pathogenic variant detected

Action: Discuss broader Leigh syndrome panel, mitochondrial genome analysis, or whole exome sequencing.

⚠️ When to Consult a Doctor:

Consult a neurologist or clinical geneticist if your child has unexplained hypotonia, seizures, developmental regression, or elevated lactate and pyruvate. Early referral helps in timely diagnosis, management, and family planning.

Limitations

  • ⚠This test is limited to the PC gene and does not assess all genes associated with Leigh syndrome.
  • ⚠It may not detect large structural rearrangements, deep intronic mutations, or epigenetic causes unless a validated complementary method is used.
  • ⚠A negative result does not exclude Leigh syndrome due to other genetic or non-genetic causes.
  • ⚠Variants of uncertain significance may require additional family testing and functional evidence.
  • ⚠Clinical correlation by a geneticist or neurologist is required for accurate interpretation.

Risks & Considerations

  • ●Minimal pain or bruising at the venepuncture site
  • ●Rare possibility of dizziness during blood collection
  • ●Very low risk of infection with sterile collection technique

Interfering Factors

  • ●DNA from allogeneic stem cell transplant recipients may reflect the donor profile.
  • ●Insufficient DNA quantity or poor DNA quality can compromise test results.
  • ●Extremely degraded samples or samples with contamination may fail quality metrics.
  • ●Heparin anticoagulant should not be used; EDTA is preferred for DNA studies.

Compare With Similar Tests

TestPC Gene Leigh syndrome due to pyruvate carboxylase deficiency NGS Genetic Test
ComparisonPC Gene Leigh syndrome due to pyruvate carboxylase deficiency NGS Genetic Test

Frequently Asked Questions

What is the PC gene Leigh syndrome NGS genetic test?
It is a targeted next-generation sequencing test that analyses the PC gene to identify mutations associated with pyruvate carboxylase deficiency, a metabolic cause of Leigh syndrome. The test is used to confirm a clinical suspicion and guide family counselling.
Who should undergo this test?
Children or adults with suspected Leigh syndrome or pyruvate carboxylase deficiency, especially those with hypotonia, seizures, developmental regression, lactic acidosis, or abnormal brain MRI. It may also be appropriate for family members when a PC gene variant has already been identified in a relative.
What does pyruvate carboxylase deficiency cause?
Pyruvate carboxylase is important for gluconeogenesis and energy metabolism. Deficiency leads to elevated lactate and pyruvate, altered energy production, and toxic metabolic accumulations that affect the brain and liver, causing the neurological features seen in Leigh syndrome.
Do I need fasting for this genetic test?
No. The test is performed on DNA extracted from blood, FTA card, or saliva; fasting is not required. However, biochemical tests such as lactate or pyruvate may require specific collection conditions. The genetic test itself does not need fasting.
What is the cost and procedure at DNA Labs India?
The test cost is Rs 20000.0, and free home sample collection is available in many cities. After blood sample collection, the sample is sent to the laboratory for NGS analysis. Reports are generally issued in 3 to 4 weeks.
Will I receive the raw data with the report?
DNA Labs India is transparent about genetic data and provides raw files such as FASTQ and VCF along with the conclusive clinical report for this test. This allows patients and treating physicians to access primary sequence data if needed.
What does a negative result mean?
A negative result means no pathogenic or likely pathogenic variant was identified in the PC gene. It does not completely rule out Leigh syndrome because other nuclear or mitochondrial genes can also cause the condition. Your doctor may recommend a broader genetic panel.
What is a variant of uncertain significance?
A VUS is a genetic change whose effect on health is not yet known. It is not interpreted as a diagnostic finding. Additional family testing or functional studies may be needed to clarify its significance. Genetic counselling is recommended.
Can this test be used for prenatal diagnosis?
Prenatal diagnosis is a separate process. If a familial PC gene mutation is known, targeted testing on fetal samples may be possible after genetic counselling and specialist discussion. A direct prenatal indication cannot be inferred from this standard clinical test.
What sample types are accepted?
Accepted sample types include peripheral blood, extracted DNA, or one drop of blood on an FTA card. The laboratory will accept samples collected according to the instructions provided at the time of booking.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings of this test in several cities. The service covers major metropolitan areas and many tier-2 and tier-3 cities across India.
How long do results take?
The turnaround time is 3 to 4 weeks because NGS sequencing, data analysis, variant classification, and clinical report preparation require quality checks. The report will be sent through the online portal, email, and WhatsApp as requested.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

Related Tests

Angelman Syndrome Test

₹10,000

Duchenne / Becker Muscular Dystrophy (DMD / BMD) Gene Mutation Test

₹14,000

Episodic Ataxia Type 1 Hotspot Test

₹11,500

Episodic Ataxia Comprehensive Profile Hotspot Test

₹16,000

Megalencephalic Leukoencephalopathy with Subcortical Cysts Van Der Knaap and Nalband MLC Gene Hotspot Mutation Test

₹7,500

Analyzer 18 SMA 18 Test Panel

₹1,755
For Hospitals & Clinics

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.

LIMS Integration

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.

Book Your Test

Enter your details and we'll connect you within 15 minutes.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.