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SURF1 Gene Leigh syndrome due to COX deficiency NGS Genetic Test

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SURF1 Gene Leigh syndrome due to COX deficiency NGS Genetic Test

Short Name: SURF1 NGS Genetic Test

Also known as: SURF1-Related Leigh Syndrome, COX Deficiency Leigh Syndrome, SURF1 Gene Sequencing, NGS Test for SURF1 Gene

SURF1 Gene Leigh syndrome due to COX deficiency NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS) on Blood (EDTA), Extracted DNA, One drop of blood on FTA Card samples. Results in 3 to 4 weeks from sample receipt. Free home collection in 300+ cities across India.

NGS Genetic TestPaediatric🏠 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 SURF1 gene, enabling confirmation of Leigh syndrome due to COX deficiency and supporting clinical management and genetic counseling.

Test Code
4182
ICD Code
G31.81
Price
₹20,000
Sample Type
Blood (EDTA), Extracted DNA, One drop of 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

No special preparation is required. It is recommended to provide detailed clinical history and any previous test results. A genetic counselling session may be scheduled to draw a pedigree chart of family members affected with Leigh syndrome.

Method: Peripheral blood draw or FTA card blood spot

Step 2

Laboratory Analysis

A blood sample is collected by a trained phlebotomist. For home collection, the coordinator will visit your location. For FTA card, a drop of blood is placed on the card and allowed to dry.

Step 3

Report Delivery

No restrictions. The sample is transported to the laboratory for analysis. You will be notified when the report is ready, typically within 3 to 4 weeks.

Timeline: 3 to 4 weeks from sample receipt

Patient Instructions

1
Before the Test:No special preparation is required. It is recommended to provide detailed clinical history and any previous test results. A genetic counselling session may be scheduled to draw a pedigree chart of family members affected with Leigh syndrome.
2
During the Test:A blood sample is collected by a trained phlebotomist. For home collection, the coordinator will visit your location. For FTA card, a drop of blood is placed on the card and allowed to dry.
3
After the Test:No restrictions. The sample is transported to the laboratory for analysis. You will be notified when the report is ready, typically within 3 to 4 weeks.

About This Test

Who Should Get This Test

To identify pathogenic variants in the SURF1 gene, enabling confirmation of Leigh syndrome due to COX deficiency and supporting clinical management and genetic counseling.

How to Prepare

  • Using an EDTA (purple top) tube for blood collection
  • Fill the FTA card according to the instructions
  • Lab labelling with patient name, date, and clinical details
  • Maintain sample at room temperature until pickup
  • Avoid haemolysis by gentle mixing

Doctor's Notes

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

"Genetic testing is essential for families with suspected mitochondrial disorders. The SURF1 gene test provides a definitive molecular diagnosis and enables accurate recurrence risk counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood (EDTA), Extracted DNA, One drop of blood on FTA Card
Sample Volume2-3 ml blood or 1 blood spot on FTA card
ContainerEDTA tube / DNA elution tube / FTA Card
Collection MethodPeripheral blood draw or FTA card blood spot

Sample Stability

EDTA blood: 72 hours at room temperature
Extracted DNA: 1 year at -20°C
FTA card: several months at room temperature
Sample Rejection Criteria:
  • Haemolysed blood samples
  • Clotted blood samples
  • Insufficient quantity
  • Incorrectly labelled or unlabelled samples
  • Samples without proper clinical history

Understanding Your Results

The test report will indicate whether any pathogenic variant is detected in the SURF1 gene. If a variant is found, the report will include the variant's pathogenicity classification, zygosity, and known clinical significance.
No pathogenic variant detected: Negative result, does not rule out Leigh syndrome caused by other genes.
One pathogenic variant in autosomal recessive pattern (with another variant): Confirms the diagnosis when biallelic.
Variant of uncertain significance: Further analysis and family segregation studies may be required.
Two pathogenic variants in compound heterozygosity or homozygosity: Confirms the molecular diagnosis of Leigh syndrome due to SURF1 mutations.
⚠️ When to Consult a Doctor:

If the result is positive, consult a clinical geneticist and pediatric neurologist for further management and recurrence risk counseling. If the result is negative but clinical suspicion remains, a broader mitochondrial gene panel or whole exome sequencing may be considered.

Limitations

  • ⚠This test only detects pathogenic variants in the SURF1 gene.
  • ⚠Variants in other nuclear or mitochondrial genes associated with Leigh syndrome are not evaluated.
  • ⚠In rare cases, deep intronic variants or regulatory region variants may not be identified by standard NGS.
  • ⚠Test results should be interpreted by a qualified clinical geneticist.

Risks & Considerations

  • ●No significant risks. Mild discomfort or bruising at the venepuncture site may occur.

Interfering Factors

  • ●Improper sample handling or delayed processing
  • ●Insufficient DNA quantity or quality
  • ●Contamination during sample collection

Compare With Similar Tests

TestSURF1 Gene Leigh syndrome due to COX deficiency NGS Genetic Test
ComparisonSURF1 Gene Leigh syndrome due to COX deficiency NGS Genetic Test

Frequently Asked Questions

What is the cost of the SURF1 gene NGS test at DNA Labs India?
The test is priced at INR 20000. DNA Labs India provides free home sample collection for online bookings at this special price across India.
What is the purpose of this genetic test?
This test identifies pathogenic variants in the SURF1 gene, which are responsible for Leigh syndrome due to cytochrome c oxidase (COX) deficiency. It confirms the molecular diagnosis and supports clinical management.
Which sample is needed for the test?
The test requires 2-3 ml of peripheral blood in an EDTA tube, or extracted DNA, or one drop of blood on an FTA card. If you choose home collection, the free sample coordinator will visit you.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings across all major Indian cities including Mumbai, Delhi, Bangalore, Hyderabad, Ahmedabad, Chennai, Kolkata, and many more.
Does this test require fasting?
No, fasting is not required for this genetic test. You can eat and drink normally before sample collection.
How long does it take to get the report?
The turnaround time for this NGS genetic test is typically 3 to 4 weeks from the date the sample is received at the laboratory.
What does a positive result mean?
A positive result indicates the presence of a pathogenic variant in the SURF1 gene, which confirms the diagnosis of Leigh syndrome due to COX deficiency. The report will include variant details and clinical interpretation.
Will I receive raw data files along with the report?
Yes, DNA Labs India is transparent and will provide the raw data (FASTQ and VCF files) along with the conclusive clinical test report. You should ask for these when booking.
Is prenatal testing possible for SURF1-related Leigh syndrome?
Prenatal genetic testing is possible if the pathogenic variant in the family is known. A genetic counselling session is recommended before considering prenatal testing.
Are there any risks or side effects of the test?
No, the test only requires a blood sample. The sample collection is safe, and there are no significant risks or side effects.
Can this test help in family planning?
Yes, identifying the specific genetic cause enables accurate genetic counselling for family members and provides options for reproductive planning, such as prenatal diagnosis or preimplantation genetic testing.
Does insurance cover the cost of this test?
Coverage depends on your insurance policy. Some private insurers may cover genetic testing when recommended by a clinician. It is advisable to check directly with your insurance provider.
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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