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LIPT1 Gene Leigh syndrome due to pyruvate and alpha-ketoglutarate dehydrogenase deficiencies, LIPT1 related NGS Genetic Test

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LIPT1 Gene Leigh syndrome due to pyruvate and alpha-ketoglutarate dehydrogenase deficiencies, LIPT1 related NGS Genetic Test

Short Name: LIPT1 Gene NGS Test

Also known as: LIPT1 Gene Leigh Syndrome NGS Panel, LIPT1-related Pyruvate Dehydrogenase Deficiency Genetic Test, LIPT1-related Alpha-ketoglutarate Dehydrogenase Deficiency Genetic Test

LIPT1 Gene Leigh syndrome due to pyruvate and alpha-ketoglutarate dehydrogenase deficiencies, LIPT1 related 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 from sample receipt.. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 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 confirm a clinical suspicion of LIPT1-related Leigh syndrome by identifying disease-causing variants in the LIPT1 gene, thereby enabling early intervention, prognosis, and genetic counselling.

Test Code
4188
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.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

A genetic counselling session is recommended to draw a pedigree chart of family members affected with LIPT1 gene Leigh syndrome. The treating doctor or genetic counsellor should document the clinical history. No fasting is required.

Method: Venipuncture or Finger-prick blood spot

Step 2

Laboratory Analysis

A small sample of blood or one drop of blood on an FTA card will be collected. The procedure is quick and safe.

Step 3

Report Delivery

The sample is sent to the laboratory for NGS analysis. Reports will be shared after 3 to 4 weeks. The patient or family may contact the genetic specialist for result interpretation.

Timeline: 3 to 4 weeks from sample receipt.

Patient Instructions

1
Before the Test:A genetic counselling session is required to document clinical history and family pedigree.
2
During the Test:A blood or FTA card sample will be collected and sent to the laboratory for NGS analysis.
3
After the Test:The report will be shared after 3 to 4 weeks. Genetic counselling is advised for result interpretation.

About This Test

Who Should Get This Test

To confirm a clinical suspicion of LIPT1-related Leigh syndrome by identifying disease-causing variants in the LIPT1 gene, thereby enabling early intervention, prognosis, and genetic counselling.

How to Prepare

  • No fasting required
  • Sample can be collected at ambient room temperature
  • FTA card blood spot is acceptable
  • Provide clinical history and family pedigree
  • Genetic counselling session before testing

Doctor's Notes

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

"A molecular confirmation of LIPT1-related Leigh syndrome is essential for accurate recurrence risk counselling and family planning decisions. Early genetic diagnosis also helps the treating neurologist plan appropriate symptomatic management and surveillance."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeNot specified
ContainerEDTA tube / FTA Card / DNA vial
Collection MethodVenipuncture or Finger-prick blood spot

Sample Stability

Ambient room temperature acceptable for transport
FTA card stable without cold chain
Sample Rejection Criteria:
  • Inadequate quantity of blood or DNA
  • Leaking or broken sample container
  • Incorrectly labeled sample
  • Wrong sample container or anticoagulant
  • Expired FTA card

Understanding Your Results

This is a molecular genetic test and the result is intended to be interpreted by a clinical geneticist or physician experienced in mitochondrial disorders.
Positive for pathogenic/likely pathogenic variant in LIPT1: Confirms the molecular diagnosis of LIPT1-related Leigh syndrome.
Negative result: Reduces but does not completely exclude LIPT1-related disease; other genetic causes may be considered.
Uncertain variant (VUS): Needs family segregation studies and clinical correlation before concluding the diagnosis.
Benign/likely benign variant: No clinical correlation with LIPT1-related Leigh syndrome.
⚠️ When to Consult a Doctor:

If symptoms such as developmental delay, seizures, hypotonia, unexplained metabolic acidosis, or respiratory distress appear in infancy or childhood, or if there is a family history of Leigh syndrome, consult a clinical geneticist or pediatric neurologist.

Limitations

  • ⚠NGS may not detect large deletions, deep intronic variants, or mitochondrial DNA variants if only the LIPT1 nuclear gene is analyzed.
  • ⚠A negative result does not exclude other genetic causes of Leigh syndrome.
  • ⚠Variants of uncertain significance may require additional family studies and clinical correlation.
  • ⚠This test is not intended for prenatal diagnosis unless specifically arranged with the clinical genetics team.

Risks & Considerations

  • ●Blood collection may cause mild pain, bruising, or bleeding at the puncture site.
  • ●FTA card finger-prick blood spot has minimal risk.

Interfering Factors

  • ●Insufficient or degraded DNA
  • ●Sample mix-up or mislabeling
  • ●Poor quality blood sample
  • ●Variant interpretation limitations
  • ●Maternal cell contamination in whole blood sample

Compare With Similar Tests

TestLIPT1 Gene Leigh syndrome due to pyruvate and alpha-ketoglutarate dehydrogenase deficiencies, LIPT1 related NGS Genetic TestTargeted LIPT1 Gene NGSLeigh Syndrome NGS Panel
ComparisonLIPT1 Gene Leigh syndrome due to pyruvate and alpha-ketoglutarate dehydrogenase deficiencies, LIPT1 related NGS Genetic Test

Frequently Asked Questions

What is the price of the LIPT1 gene Leigh syndrome NGS genetic test?
The test cost is INR 20,000 (Rs 20000.0) at DNA Labs India. The price includes the NGS genetic test, clinical report, raw data files, and free home sample collection in select cities.
What is LIPT1 gene Leigh syndrome?
It is a subtype of Leigh syndrome caused by mutations in the LIPT1 gene that lead to deficiencies of pyruvate and alpha-ketoglutarate dehydrogenase enzymes. This affects mitochondrial energy production and causes progressive neurological damage.
What are the common symptoms of LIPT1 gene Leigh syndrome?
Common symptoms include developmental delays, weakness, muscle stiffness, poor coordination and balance, seizures, vision and hearing loss, and respiratory problems. These symptoms usually appear in the first year of life and worsen over time.
How is LIPT1 gene Leigh syndrome diagnosed?
Diagnosis is confirmed through genetic testing to identify LIPT1 mutations, blood and urine tests to measure pyruvate and alpha-ketoglutarate dehydrogenase enzyme levels, and MRI to detect characteristic brain abnormalities.
What sample is required for this NGS genetic test?
The sample can be blood, extracted DNA, or one drop of blood on an FTA card. The laboratory will perform NGS analysis on the provided sample.
Is fasting required before giving the sample?
No, fasting is not required for this genetic test. You should follow the collection instructions provided by the laboratory or the ordering doctor.
How long will the LIPT1 gene NGS test reports take?
Reports are usually available within 3 to 4 weeks after the sample is received by the laboratory.
Does DNA Labs India provide raw data files with the clinical report?
Yes. DNA Labs India provides Raw Data, FASTQ, and VCF files along with the conclusive clinical report. This transparency supports independent or secondary interpretation by clinicians and researchers.
Who should request this LIPT1 gene NGS test?
The test should be ordered by a doctor or genetic counselor who specializes in genetic disorders, particularly a neurologist, pediatrician, or clinical geneticist.
How will I receive the test report?
The report will be delivered through the online portal, email, or WhatsApp, depending on your preferred communication mode.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings across many cities in India, including Mumbai, Delhi, Bangalore, Hyderabad, Chennai, Kolkata, and others.
What does a positive LIPT1 gene mutation result mean?
A positive result means a pathogenic or likely pathogenic variant has been identified in the LIPT1 gene, confirming the molecular diagnosis of LIPT1-related Leigh syndrome. You should discuss the result with a clinical geneticist for management and family counselling.
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.

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