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ATP8A2 Gene Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome Type 4 NGS Genetic Test

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ATP8A2 Gene Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome Type 4 NGS Genetic Test

Short Name: ATP8A2 NGS Genetic Test

Also known as: CAMRQ4, ATP8A2-related disorder, Cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 4

ATP8A2 Gene Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome Type 4 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.

Next-Generation Sequencing (NGS)All ages, typically diagnosed in childhood🏠 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 diagnose Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome Type 4 by detecting mutations in the ATP8A2 gene, aiding in clinical management and genetic counseling.

Test Code
1540
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 detailed clinical history and family pedigree during genetic counseling.

Method: Venipuncture or finger-prick

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or finger-prick. For FTA card, one drop of blood is applied.

Step 3

Report Delivery

Apply pressure to the puncture site. Sample is sent to the laboratory for analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Undergo genetic counseling to discuss test implications, provide family history, and understand the process.
2
During the Test:Sample collection procedure as described; minimal discomfort from blood draw.
3
After the Test:Rest briefly after sample collection. Await results and schedule follow-up consultation.

About This Test

Who Should Get This Test

To diagnose Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome Type 4 by detecting mutations in the ATP8A2 gene, aiding in clinical management and genetic counseling.

How to Prepare

  • Ensure proper patient identification
  • Use sterile collection equipment
  • Follow standard phlebotomy procedures
  • Label samples correctly

Doctor's Notes

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

"Genetic testing for ATP8A2 gene disorders is vital for accurate diagnosis, treatment planning, and genetic counseling. It helps identify carriers and informs family planning decisions."

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 for blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger-prick

Sample Stability

Blood samples stable at 2-8°C for up to 48 hours
FTA cards stable at room temperature for extended periods
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Improperly labeled or contaminated samples

Understanding Your Results

Genetic test results indicate the presence or absence of pathogenic variants in the ATP8A2 gene, which is associated with Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome Type 4.
📊

Pathogenic variant detected

Confirms diagnosis of CAMRQ4. Genetic counseling and personalized treatment planning recommended.

📊

No pathogenic variant detected

Does not rule out other genetic or non-genetic causes. Clinical correlation and further evaluation advised.

📊

Variant of uncertain significance (VUS)

May require additional testing, family studies, or clinical follow-up for clarification.

⚠️ When to Consult a Doctor:

If symptoms of cerebellar ataxia, intellectual disability, or balance problems are present, or after receiving test results for interpretation and management.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Not suitable for prenatal diagnosis without validation
  • ⚠Results should be interpreted in clinical context

Risks & Considerations

  • ●Minimal risk from blood draw: bruising, infection, or discomfort at puncture site
  • ●No significant physical risks associated with genetic testing itself

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Improper sample collection

Compare With Similar Tests

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ComparisonATP8A2 Gene Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome Type 4 NGS Genetic Test

Frequently Asked Questions

What is ATP8A2 Gene Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome Type 4?
It is a rare genetic disorder caused by mutations in the ATP8A2 gene, affecting brain and nervous system development, leading to coordination problems, intellectual disability, and balance issues.
What are the common symptoms of this disorder?
Symptoms include cerebellar ataxia (poor coordination), mental retardation, delayed development, muscle stiffness, difficulty walking, and abnormal eye movements.
How is the ATP8A2 gene test performed?
The test uses Next-Generation Sequencing (NGS) to analyze the ATP8A2 gene from a blood or DNA sample. Samples can be collected at home or in a lab.
What is the cost of the ATP8A2 Gene NGS Genetic Test at DNA Labs India?
The cost is INR 20,000, with home sample collection available across India.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings in numerous cities across India.
How long does it take to receive the test results?
Results are typically available within 3 to 4 weeks after sample collection.
What do the test results mean if a pathogenic variant is detected?
Detection of a pathogenic variant confirms the diagnosis of CAMRQ4, enabling personalized treatment and genetic counseling for family planning.
Can this test be used for carrier testing in family members?
Yes, it can identify carriers of the ATP8A2 mutation, but genetic counseling is recommended to interpret results and assess risk.
Are there any risks associated with the genetic test?
The test involves minimal risks from blood draw, such as bruising or infection. Genetic testing itself poses no significant physical risks.
Who should consider getting this ATP8A2 gene test?
Individuals with symptoms of cerebellar ataxia, intellectual disability, or a family history of similar neurological disorders should consider testing.
Why is genetic counseling important before and after the test?
Genetic counseling helps understand test implications, interpret results, and provides support for treatment planning and family decisions.
How can I book the ATP8A2 Gene Test with DNA Labs India?
You can book the test online through DNA Labs India's website or by contacting their customer service for assistance and home collection scheduling.
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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