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CA8 Gene Cerebellar Ataxia and Mental Retardation with or without Quadrupedal Locomotion Type 3 NGS Genetic Test

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CA8 Gene Cerebellar Ataxia and Mental Retardation with or without Quadrupedal Locomotion Type 3 NGS Genetic Test

Short Name: CA8 Gene Cerebellar Ataxia Type 3 NGS Test

CA8 Gene Cerebellar Ataxia and Mental Retardation with or without Quadrupedal Locomotion Type 3 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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

✍️ 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 CA8 gene for diagnosis of cerebellar ataxia and mental retardation with or without quadrupedal locomotion type 3.

Test Code
1543
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
NGS Technology
Step 1

Sample Collection

Provide detailed clinical history and undergo genetic counseling to draw a pedigree chart of affected family members.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample will be collected using sterile technique.

Step 3

Report Delivery

Sample will be processed for DNA extraction and NGS analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history assessment.
2
During the Test:Blood sample collection and DNA extraction for NGS analysis.
3
After the Test:Laboratory analysis and report generation.

About This Test

Who Should Get This Test

To identify mutations in the CA8 gene for diagnosis of cerebellar ataxia and mental retardation with or without quadrupedal locomotion type 3.

How to Prepare

  • Use sterile needles and tubes for blood collection
  • For FTA card, follow manufacturer instructions
  • Label samples with patient details

Doctor's Notes

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

"Genetic testing is essential for confirming diagnosis of CA8-related cerebellar ataxia and mental retardation, enabling appropriate management and genetic counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3 ml of blood or equivalent DNA
ContainerEDTA tube or FTA Card
Collection MethodVenipuncture

Sample Stability

Blood sample stable at room temperature for 24 hours
DNA extract stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient volume
  • Incorrect sample type
  • Improper labeling

Understanding Your Results

Results of genetic testing for CA8 gene mutations should be interpreted by a qualified geneticist in the context of clinical symptoms and family history.
Positive: Pathogenic mutation in CA8 gene detected
Negative: No pathogenic mutation detected
Variant of uncertain significance: May require further evaluation
⚠️ When to Consult a Doctor:

If symptoms of ataxia, intellectual disability, or seizures are present, or if there is a family history of similar conditions, consult a neurologist or geneticist.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Requires clinical correlation for diagnosis

Risks & Considerations

  • ●Minimal risk from blood draw
  • ●Potential psychological impact of test results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Recent blood transfusion

Frequently Asked Questions

What is the CA8 Gene Cerebellar Ataxia and Mental Retardation Type 3 NGS Genetic Test?
It is a genetic test that uses next-generation sequencing to identify mutations in the CA8 gene, which can cause cerebellar ataxia, intellectual disability, and quadrupedal locomotion.
What are the symptoms of this disorder?
Symptoms include ataxia, intellectual disability, delayed speech, seizures, abnormal gait, unsteady movements, and behavioral problems.
Why is this test recommended?
This test is recommended for individuals with symptoms of cerebellar ataxia or intellectual disability, especially if there is a family history, to confirm diagnosis through genetic analysis.
How is the test performed?
The test involves collecting a blood sample, extracting DNA, and analyzing the CA8 gene using NGS technology.
What is the cost of the test?
The cost is INR 20000.
Is home sample collection available?
Yes, free home sample collection is available across many cities in India.
How long does it take to get results?
Results are typically available in 3 to 4 weeks.
What sample type is required?
Blood, extracted DNA, or one drop of blood on an FTA card can be used.
Who should undergo this test?
Individuals with symptoms of cerebellar ataxia, intellectual disability, or neurological disorders of unknown cause, and those with a family history of similar conditions.
What does a positive result mean?
A positive result indicates the presence of a pathogenic mutation in the CA8 gene, confirming diagnosis of the disorder.
Are there any risks associated with the test?
The risks are minimal, primarily related to blood collection, such as slight pain or bruising. There may be emotional impact from results.
Can this test be done for children?
Yes, the test can be performed on individuals of all ages, including children, when medically indicated.
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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