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NUBPL Gene Leigh syndrome NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

NUBPL Gene Leigh syndrome NGS Genetic Test

Short Name: NUBPL Gene NGS

Also known as: NUBPL Gene Sequencing, Leigh Syndrome NGS Panel, NUBPL Mutation Analysis

NUBPL Gene Leigh syndrome 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 Results are typically available within 3 to 4 weeks after the laboratory receives the sample.. Free home collection in 300+ cities across India.

NGS Genetic TestAll Age Groups🏠 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

This test is used to detect mutations in the NUBPL gene to confirm a diagnosis of Leigh syndrome or identify carriers in at-risk families.

Test Code
4173
ICD Code
G31.81
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Results are typically available within 3 to 4 weeks after the laboratory receives the sample.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation or fasting is required. However, a genetic counselling session is recommended before testing to draw a family pedigree and discuss implications.

Method: Blood draw or FTA card spot

Step 2

Laboratory Analysis

A blood sample is drawn by a trained phlebotomist. If using an FTA card, a few drops of blood are spotted on the card and allowed to dry.

Step 3

Report Delivery

The sample is labeled and transported to the laboratory at ambient temperature. The laboratory processes the sample for DNA extraction and NGS analysis.

Timeline: Results are typically available within 3 to 4 weeks after the laboratory receives the sample.

Patient Instructions

1
Before the Test:No specific preparation. Genetic counselling is strongly advised.
2
During the Test:The test involves either a simple blood draw or a finger-prick sample on an FTA card. For children, a phlebotomist with pediatric expertise will collect the sample.
3
After the Test:You will receive the clinical report and raw data files via the chosen delivery mode. Please discuss the results with your referring doctor or genetic counsellor.

About This Test

Who Should Get This Test

This test is used to detect mutations in the NUBPL gene to confirm a diagnosis of Leigh syndrome or identify carriers in at-risk families.

How to Prepare

  • No fasting required.
  • Ensure the patient's full name and date of birth are correctly mentioned on the sample.
  • For FTA card, allow the blood spot to air dry completely before packaging.
  • Do not send the sample in direct sunlight or with wet ice.

Doctor's Notes

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

"Leigh syndrome often presents in infancy; early genetic diagnosis is essential for appropriate counselling and management."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2-3 ml blood or 1 spot on FTA card
ContainerEDTA vial or FTA card
Collection MethodBlood draw or FTA card spot

Sample Stability

Blood (EDTA): 7 days at room temperature; 14 days at 2-8°C.
Extracted DNA: 30 days at -20°C.
FTA card: 6 months at room temperature (stored in a dry, sealed pouch).
Sample Rejection Criteria:
  • Hemolyzed or clotted samples (unless indicated)
  • Incorrectly labeled samples
  • Samples with insufficient volume
  • Contaminated samples (e.g., microbial growth)

Understanding Your Results

Results are evaluated in the context of clinical findings and classification by ACMG guidelines. A negative result does not exclude Leigh syndrome due to mutations in other genes.
Positive (Pathogenic/Likely Pathogenic): Confirms molecular diagnosis of NUBPL-related Leigh syndrome; allows targeted management and genetic counseling.
Negative: No disease-causing variants identified in the NUBPL gene; other genetic causes should be explored.
Variant of Uncertain Significance (VUS): Variant(s) found but clinical significance is unclear; further family studies and functional assays may be needed.
⚠️ When to Consult a Doctor:

Consult a neurologist or medical geneticist if symptoms such as developmental regression, hypotonia, seizures, or breathing difficulties are present. Also, consult if a pathogenic NUBPL variant has been identified in a family member.

Limitations

  • ⚠NGS may not detect deep intronic variants, large deletions/duplications, promoter variants, or repeat expansions.
  • ⚠This test only analyzes the NUBPL gene and does not rule out mutations in other genes associated with Leigh syndrome.

Risks & Considerations

  • ●Minimal bleeding or bruising at the blood collection site
  • ●Slight pain or discomfort during blood draw
  • ●Fainting or dizziness (rare)

Interfering Factors

  • ●Recent bone marrow transplantation or blood transfusion may affect DNA analysis if sample is not from the correct source.
  • ●Maternal cell contamination in cord blood samples.

Frequently Asked Questions

What is Leigh syndrome?
Leigh syndrome is a rare, progressive neurological disorder that usually appears in infancy or early childhood. It affects the central nervous system and can cause developmental delay, muscle weakness, seizures, and breathing difficulties.
What is the NUBPL gene?
The NUBPL gene provides instructions for making a protein involved in mitochondrial complex I assembly. Mutations in this gene may lead to mitochondrial dysfunction and cause Leigh syndrome.
How is the NUBPL gene Leigh syndrome NGS Genetic Test performed?
The test uses Next Generation Sequencing (NGS) to analyze the coding regions and splice sites of the NUBPL gene for mutations. It is performed on a blood or FTA card sample.
What sample do I need to provide for this test?
The preferred samples are 2-3 ml of blood in an EDTA vial, or one drop of blood spotted on an FTA card. Extracted DNA from another source can also be submitted.
Do I need to fast before the test?
No, fasting is not required for this genetic test. You can eat and drink normally before sample collection.
How long will my test results take?
The turnaround time for this test is 3 to 4 weeks. You will receive your report and raw data via email, WhatsApp, or the online portal.
What is the cost of the NUBPL gene Leigh syndrome NGS Genetic Test?
The test costs INR 20,000. This includes free home sample collection and the clinical report along with raw data files.
Is this test covered by health insurance?
Genetic testing is often not covered by standard insurance policies. You may check with your insurance provider or our billing team for details.
What does a positive result mean?
A positive result indicates the presence of a pathogenic or likely pathogenic variant in the NUBPL gene, confirming the genetic diagnosis of Leigh syndrome.
What does a negative result mean?
A negative result means no disease-causing variants were found in the NUBPL gene. This does not completely exclude Leigh syndrome, as other genes may be responsible.
Can I get raw data and VCF files along with the report?
Yes, DNA Labs India is one of the only laboratories that provides the raw data (FASTQ, BAM) and VCF files along with the conclusive clinical report.
Who should undergo this genetic test?
Individuals with clinical signs of Leigh syndrome, unexplained developmental delay, mitochondrial disorders, or a family history of NUBPL-related disease should consider this test. Genetic counselling before testing is recommended.
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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