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DNA Labs India

COX20 Gene Ataxia and Muscle Hypotonia NGS Genetic Test

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COX20 Gene Ataxia and Muscle Hypotonia NGS Genetic Test

Short Name: COX20 Gene Ataxia NGS Test

Also known as: COX20 Deficiency, Ataxia with COX20 Mutation, Mitochondrial Disorder due to COX20

COX20 Gene Ataxia and Muscle Hypotonia 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 TestAll Ages🏠 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 mutations in the COX20 gene for the diagnosis of COX20-related ataxia and muscle hypotonia, enabling early intervention, genetic counseling, and family planning.

Test Code
1514
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 of the patient and undergo a genetic counseling session to draw a pedigree chart of affected family members. No fasting required.

Method: Venipuncture or FTA Card

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or using an FTA card for drop blood. Ensure proper labeling and handling.

Step 3

Report Delivery

Sample is processed for DNA extraction and NGS analysis. Maintain ambient room temperature during transport.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are recommended before testing.
2
During the Test:Blood sample collection via standard venipuncture or FTA card.
3
After the Test:Results are analyzed and reported online; genetic counseling provided for interpretation.

About This Test

Who Should Get This Test

To identify pathogenic mutations in the COX20 gene for the diagnosis of COX20-related ataxia and muscle hypotonia, enabling early intervention, genetic counseling, and family planning.

How to Prepare

  • Fasting is not required
  • Bring valid ID and doctor's prescription
  • Inform about any medications or recent transfusions
  • Wear comfortable clothing for blood draw

Doctor's Notes

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

"As an obstetrician-gynecologist, I recommend genetic testing for couples with a family history of neurological disorders. The COX20 gene test aids in prenatal planning, early diagnosis, and genetic counseling to manage risks and improve outcomes."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture or FTA Card

Sample Stability

24 hours for whole blood; longer for extracted DNA
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Inadequate sample volume
  • Improper labeling or container

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the COX20 gene. Positive findings confirm a diagnosis of COX20-related disorders.
A negative result suggests no detected mutations, but does not rule out all genetic causes
Positive result requires consultation with a genetic counselor for management and family testing
Variants of uncertain significance may need further analysis
⚠️ When to Consult a Doctor:

Consult a neurologist or geneticist if symptoms like ataxia, muscle weakness, or developmental delays are present, or if there is a family history of similar disorders.

Limitations

  • ⚠Cannot detect all possible genetic variations
  • ⚠Results require interpretation by a genetic specialist
  • ⚠May not identify variants of uncertain significance

Risks & Considerations

  • ●Minor bruising at blood draw site
  • ●Rare risk of infection
  • ●Fainting in sensitive individuals

Interfering Factors

  • ●Contaminated or degraded DNA sample
  • ●Insufficient sample volume
  • ●Recent blood transfusions

Compare With Similar Tests

TestCOX20 Gene Ataxia and Muscle Hypotonia NGS Genetic TestATXN1 Gene Spinocerebellar Ataxia NGS TestDMD Gene Muscular Dystrophy NGS Test
ComparisonCOX20 Gene Ataxia and Muscle Hypotonia NGS Genetic Test

Frequently Asked Questions

What is the COX20 Gene Ataxia and Muscle Hypotonia NGS Genetic Test?
It is a next-generation sequencing test that detects mutations in the COX20 gene to diagnose rare genetic disorders causing ataxia and muscle hypotonia.
What are the symptoms of COX20 gene disorders?
Symptoms include delayed motor milestones, muscle weakness, difficulty walking, tremors, speech issues, seizures, and vision or hearing problems.
How is the test performed?
A blood sample or extracted DNA is collected and analyzed using NGS technology to identify COX20 gene mutations.
What is the cost of the test in India?
The test costs INR 20,000, which includes home sample collection in many cities across India.
Is fasting required for the test?
No, fasting is not required for this genetic test.
How long does it take to get the results?
Results are typically available in 3 to 4 weeks after sample collection.
Can the test be done at home?
Yes, DNA Labs India offers free home sample collection for online bookings in numerous cities.
What does a positive result mean?
A positive result confirms mutations in the COX20 gene, indicating a diagnosis of COX20-related ataxia and muscle hypotonia.
Is genetic counseling required before the test?
Yes, a genetic counseling session is recommended to draw a family pedigree and discuss implications.
What are the risks of the test?
Risks are minimal and may include bruising, fainting, or rare infection at the blood draw site.
Is the test covered by insurance?
Coverage depends on your insurance plan; it is often not covered, so check with your provider.
How can I book the test?
You can book online through DNA Labs India's website or contact them via phone for home collection.
What is the inheritance pattern of COX20 gene disorders?
COX20 gene disorders are typically inherited in an autosomal recessive pattern, meaning two copies of the mutated gene are needed for the condition to manifest.
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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