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ACO2 Gene Cerebellar-Retinal Degeneration, Infantile NGS Genetic Test

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ACO2 Gene Cerebellar-Retinal Degeneration, Infantile NGS Genetic Test

Short Name: ACO2 Gene NGS Test

Also known as: ACO2 Gene Cerebellar-Retinal Degeneration, Infantile, Infantile Cerebellar-Retinal Degeneration

ACO2 Gene Cerebellar-Retinal Degeneration, Infantile NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology (Next-Generation Sequencing) on Blood samples. Results in Turnaround time is 3 to 4 weeks from sample receipt.. Free home collection in 300+ cities across India.

NGS Genetic TestInfants🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

The purpose of this NGS genetic test is to identify disease-causing mutations in the ACO2 gene, confirming the clinical diagnosis of ACO2 gene cerebellar-retinal degeneration, infantile. It also helps in genetic counseling, family planning, and early management of symptoms.

Test Code
3800
Price
₹20,000
Sample Type
Blood
Result Time
Turnaround time is 3 to 4 weeks from sample receipt.
Fasting Required
No
Method
NGS Technology (Next-Generation Sequencing)
Step 1

Sample Collection

Informed consent is required. A genetic counseling session to draw a family pedigree should be completed before sample collection. No fasting needed.

Method: Blood Draw

Step 2

Laboratory Analysis

Blood sample is collected by a trained phlebotomist from a vein in the arm using a sterile needle.

Step 3

Report Delivery

The sample is sent to the laboratory for NGS analysis. You can track the status online. Reports are typically available in 3 to 4 weeks.

Timeline: Turnaround time is 3 to 4 weeks from sample receipt.

Patient Instructions

1
Before the Test:No fasting required. Genetic counseling is recommended before the test.
2
During the Test:A simple blood draw takes around 5-10 minutes. No anesthesia needed.
3
After the Test:You may resume normal activities immediately. Report will be shared via portal/email/WhatsApp in 3-4 weeks.

About This Test

Who Should Get This Test

The purpose of this NGS genetic test is to identify disease-causing mutations in the ACO2 gene, confirming the clinical diagnosis of ACO2 gene cerebellar-retinal degeneration, infantile. It also helps in genetic counseling, family planning, and early management of symptoms.

How to Prepare

  • Please carry the doctor's prescription and previous test reports if available.
  • Ensure informed consent is signed.
  • A genetic counseling session will be conducted before sample collection.
  • Wear comfortable clothing to allow easy blood draw.

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"Early genetic diagnosis in families with a history of infantile cerebellar-retinal degeneration allows for prompt medical and developmental support. Referral for genetic counseling is essential."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood
Collection MethodBlood Draw

Sample Stability

Blood sample: Stable for 7 days at 2-8°C if transported properly.
Extracted DNA: Stable for 6 months at -20°C.
Sample Rejection Criteria:
  • Clotted blood sample
  • Hemolysed sample
  • Incorrectly labeled sample
  • Sample received in an improper collection container

Understanding Your Results

Interpretation of the ACO2 gene NGS test should be done by a clinical geneticist. A negative result reduces the likelihood of ACO2-related disorder but does not exclude other genetic causes. A positive result confirms the diagnosis. Variants of uncertain significance require further investigation.
📊

Negative (No pathogenic variant detected)

No disease-causing changes found in the ACO2 gene. Clinical symptoms may be due to other genetic or non-genetic causes.

📊

Positive (Pathogenic variant detected)

Confirms the clinical diagnosis of ACO2 gene cerebellar-retinal degeneration, infantile. Genetic counseling is recommended.

📊

Variant of Uncertain Significance (VUS)

A DNA change was found, but its clinical significance is not known. Additional testing in family members may help reclassify the variant.

⚠️ When to Consult a Doctor:

If you notice symptoms like poor vision, difficulty with balance, weak muscle tone, intellectual disability, or seizures in your child, consult a pediatrician or clinical geneticist for evaluation and possible genetic testing.

Limitations

  • ⚠NGS may not detect all types of mutations such as trinucleotide repeat expansions, large deletions, or structural rearrangements.
  • ⚠Variants of uncertain significance may not provide a definitive diagnosis.
  • ⚠Test should be interpreted by a genetics specialist in the context of clinical findings.

Risks & Considerations

  • ●Minimal risk of bleeding, bruising, or infection at the needle site

Interfering Factors

  • ●Insufficient DNA quantity
  • ●Sample degradation
  • ●Presence of PCR inhibitors
  • ●Patient recently received a blood transfusion

Compare With Similar Tests

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Frequently Asked Questions

What is ACO2 Gene Cerebellar-Retinal Degeneration, Infantile?
It is a rare genetic disorder caused by mutations in the ACO2 gene that affects the brain and eyes, leading to death of cells in the cerebellum and retina.
What causes ACO2 Gene Cerebellar-Retinal Degeneration, Infantile?
Mutations in the ACO2 gene affect the production of aconitase 2 enzyme, causing energy deficiency and toxic byproduct buildup, leading to cell death.
What are the symptoms of this condition?
Symptoms include progressive vision loss, balance and coordination problems, weak muscle tone, intellectual disability, and seizures.
How is ACO2 Gene Cerebellar-Retinal Degeneration, Infantile diagnosed?
Diagnosis involves clinical evaluation, imaging studies, and genetic testing using NGS technology to detect ACO2 gene mutations.
What is NGS technology?
NGS (Next-Generation Sequencing) is a high-throughput method that can analyze large amounts of DNA sequence data quickly and accurately.
What is the cost of the ACO2 gene NGS genetic test?
The cost is approximately INR 20,000 in India, but may vary depending on the laboratory or clinic.
What sample is required for this test?
A blood sample is required for the ACO2 gene NGS genetic test.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings for this test across many cities in India.
How long do the test reports take?
Reports are usually available within 3 to 4 weeks after the sample reaches the laboratory.
What is the role of genetic counseling in this test?
A genetic counseling session is conducted to draw a pedigree chart of family members and explain the benefits, risks, and implications of genetic testing.
What does a positive ACO2 gene mutation result mean?
A positive result confirms the clinical diagnosis of ACO2 gene cerebellar-retinal degeneration, infantile, and indicates that the condition has a genetic cause.
Can ACO2 Gene Cerebellar-Retinal Degeneration, Infantile be treated?
Early diagnosis and treatment can help manage symptoms and improve quality of life. A healthcare provider or genetic counselor can guide on treatment options.
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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