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DNA Labs India

SCO1 Gene Hepatic failure, early onset, and neurologic disorder NGS Genetic Test

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SCO1 Gene Hepatic failure, early onset, and neurologic disorder NGS Genetic Test

Short Name: SCO1 Gene NGS Test

Also known as: SCO1 Gene Mutation Test, Cytochrome c Oxidase Deficiency Test

SCO1 Gene Hepatic failure, early onset, and neurologic disorder 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. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

🩺 Medically Reviewed By

Overview

To detect mutations in the SCO1 gene for definitive diagnosis of hepatic failure and neurologic disorders, enabling personalized treatment strategies.

Test Code
5419
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Provide clinical history and undergo genetic counseling session to draw a pedigree chart.

Method: Venipuncture or finger-prick

Step 2

Laboratory Analysis

Standard blood draw or finger-prick procedure under aseptic conditions.

Step 3

Report Delivery

Sample is labeled and sent to the laboratory for NGS analysis.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and informed consent are required. Provide detailed clinical history.
2
During the Test:Blood sample collection via venipuncture or finger-prick.
3
After the Test:Wait for report delivery in 3-4 weeks and follow up with physician for interpretation.

About This Test

Who Should Get This Test

To detect mutations in the SCO1 gene for definitive diagnosis of hepatic failure and neurologic disorders, enabling personalized treatment strategies.

How to Prepare

  • Ensure proper sample labeling with patient details
  • Follow aseptic techniques to avoid contamination
  • Use appropriate collection tubes as specified

Doctor's Notes

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

"Early diagnosis through NGS can guide personalized treatment for SCO1-related disorders, improving patient outcomes."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs per lab requirements
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger-prick

Sample Stability

Blood: 24 hours at room temperature
Extracted DNA: stable for up to 1 week at 4°C
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient sample volume
  • Improper labeling

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the SCO1 gene, aiding in diagnosis.
Positive: Pathogenic variant detected, confirming SCO1-related disorder.
Negative: No pathogenic variants detected, but clinical correlation is advised.
Variant of Uncertain Significance: Further testing or family studies may be needed.
⚠️ When to Consult a Doctor:

If symptoms persist, test result is positive, or for family planning advice, consult a geneticist or hepatologist.

Limitations

  • May not detect all types of mutations
  • Requires genetic counseling for interpretation
  • Results may have variants of uncertain significance

Risks & Considerations

  • Minimal risk from blood draw (bruising, infection)
  • Psychological impact of genetic results

Interfering Factors

  • Degraded DNA sample
  • Contamination during collection
  • Hemolyzed blood sample

Frequently Asked Questions

What is the SCO1 Gene NGS Genetic Test?
It is a Next-Generation Sequencing test to detect mutations in the SCO1 gene, which can cause hepatic failure and neurologic disorders.
What disorders are associated with SCO1 gene mutations?
Mutations can lead to early-onset hepatic failure, neurologic dysfunction, and related symptoms like seizures and developmental delay.
What are the symptoms of SCO1-related disorders?
Common symptoms include jaundice, enlarged liver, fatigue, seizures, developmental delay, and cognitive impairment.
How is the test performed?
A blood or DNA sample is collected and analyzed using NGS technology to identify gene mutations.
What is the cost of the test?
The test costs INR 20,000 in India, with free home sample collection available.
Is home sample collection available?
Yes, free home sample collection is offered across many cities in India for online bookings.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
What should I do before the test?
Provide clinical history and undergo genetic counseling to understand the test implications.
How accurate is the NGS test?
NGS is highly accurate for detecting multiple gene mutations, providing a definitive diagnosis.
Can this test be used for prenatal diagnosis?
Consult a geneticist for prenatal testing options, as this test may not be standard for prenatal use.
What if the test result is positive?
A positive result indicates a pathogenic variant; consult a healthcare professional for management and treatment plans.
Is genetic counseling recommended?
Yes, genetic counseling is strongly recommended before and after testing to interpret results and discuss implications.
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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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.

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