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SCO2 Gene Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency NGS Genetic Test

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SCO2 Gene Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency NGS Genetic Test

Short Name: SCO2 Gene Test

Also known as: Cytochrome c oxidase deficiency genetic test, SCO2 mutation analysis

SCO2 Gene Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase 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 3 to 4 Weeks. Free home collection in 300+ cities across India.

NGS Genetic TestInfants and young children🏠 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 mutations in the SCO2 gene responsible for cardioencephalomyopathy, aiding in diagnosis, prognosis, and family genetic counseling.

Test Code
2513
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

No specific preparation required. Provide clinical history and family pedigree.

Method: Venipuncture or finger-prick for FTA card

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or FTA card.

Step 3

Report Delivery

Apply pressure to the puncture site. Resume normal activities.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session recommended. Provide detailed medical history.
2
During the Test:Sample collection and processing in the lab.
3
After the Test:Results delivered in 3-4 weeks. Follow-up with healthcare provider.

About This Test

Who Should Get This Test

To identify mutations in the SCO2 gene responsible for cardioencephalomyopathy, aiding in diagnosis, prognosis, and family genetic counseling.

How to Prepare

  • Fast for 4 hours if specified, but not required
  • Bring identification and prescription
  • Inform about any medications

Doctor's Notes

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

"Early genetic testing for SCO2 gene mutations is crucial for diagnosis, management, and family planning in affected infants."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 ml blood or equivalent DNA
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger-prick for FTA card

Sample Stability

Blood samples stable for 48 hours at 2-8°C
FTA cards stable at room temperature
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Unlabeled samples

Understanding Your Results

Results indicate the presence or absence of mutations in the SCO2 gene. Positive results confirm diagnosis, while negative results may require further testing.
Pathogenic variant detected: Diagnosis confirmed
Variant of uncertain significance: Further evaluation needed
No variant detected: Consider other causes
⚠️ When to Consult a Doctor:

Consult a geneticist or cardiologist immediately if symptoms are present or for family planning advice.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Requires clinical correlation
  • ⚠Genetic counseling recommended for interpretation

Risks & Considerations

  • ●Minimal risk from blood draw: bruising, infection
  • ●Psychological impact of genetic results

Interfering Factors

  • ●Contaminated DNA sample
  • ●Improper sample storage
  • ●Recent blood transfusion

Compare With Similar Tests

TestSCO2 Gene Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency NGS Genetic TestMuscle BiopsyBlood Lactic Acid Test
ComparisonSCO2 Gene Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency NGS Genetic Test

Frequently Asked Questions

What is SCO2 gene cardioencephalomyopathy?
It is a rare genetic disorder caused by mutations in the SCO2 gene, leading to cytochrome c oxidase deficiency and affecting the heart, muscles, and nervous system.
What are the symptoms of this disorder?
Symptoms include muscle weakness, developmental delays, seizures, respiratory problems, heart failure, and lactic acidosis.
How is SCO2 gene cardioencephalomyopathy diagnosed?
Diagnosis involves genetic testing (NGS), blood tests for lactic acid, ECG, echocardiogram, and sometimes muscle biopsy.
What is the NGS genetic test for SCO2 gene?
It is a Next-Generation Sequencing test that analyzes the SCO2 gene to detect mutations responsible for the disorder.
How much does the SCO2 gene test cost in India?
The cost at DNA Labs India is INR 20000, with free home sample collection available.
Is home sample collection available for this test?
Yes, free home sample collection is offered across many cities in India for online bookings.
How long does it take to receive the test results?
Results are typically available in 3 to 4 weeks after sample collection.
What does a positive test result indicate?
A positive result confirms the presence of pathogenic mutations in the SCO2 gene, aiding in diagnosis and management.
Can this test be used for carrier testing or prenatal diagnosis?
It can be used for carrier testing in families, and prenatal diagnosis may be possible with genetic counseling.
Are there any risks or side effects of the test?
Risks are minimal, such as bruising from blood draw, but genetic results may have psychological implications.
How accurate is the NGS genetic test for SCO2 gene mutations?
NGS is highly accurate for detecting known mutations, but may not identify all variants; clinical correlation is advised.
What should I do after receiving the test results?
Consult a geneticist or healthcare provider for interpretation, management options, and genetic counseling.
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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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.

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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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