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DNA Labs India

GBA2 Gene Cerebellar Ataxia with Spasticity NGS Genetic Test

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GBA2 Gene Cerebellar Ataxia with Spasticity NGS Genetic Test

Short Name: GBA2 Gene Test

Also known as: GBA2-related ataxia, Spastic cerebellar ataxia, GBA2 deficiency

GBA2 Gene Cerebellar Ataxia with Spasticity 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 diagnose cerebellar ataxia with spasticity caused by GBA2 gene mutations, enabling informed clinical management, genetic counseling, and family planning.

Test Code
1532
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

Inform the laboratory about any medications or recent medical procedures.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample will be collected by a trained phlebotomist using standard venipuncture techniques.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising and resume normal activities.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:No specific preparation is required, but provide a detailed clinical history.
2
During the Test:Sample collection typically takes 10-15 minutes with minimal discomfort.
3
After the Test:Resume normal activities immediately; no restrictions post-collection.

About This Test

Who Should Get This Test

To diagnose cerebellar ataxia with spasticity caused by GBA2 gene mutations, enabling informed clinical management, genetic counseling, and family planning.

How to Prepare

  • Avoid strenuous activity before sample collection
  • Ensure proper patient identification
  • Label the sample correctly with patient details

Doctor's Notes

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

"This test is crucial for diagnosing rare genetic ataxias and guiding personalized management strategies."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 ml blood
ContainerEDTA tube for blood
Collection MethodVenipuncture

Sample Stability

Sample Rejection Criteria:
  • Insufficient sample volume
  • Hemolyzed sample
  • Improperly labeled or contaminated sample

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the GBA2 gene, which is associated with cerebellar ataxia with spasticity.
📊

Positive

Pathogenic variant detected, confirming a diagnosis of GBA2-related cerebellar ataxia with spasticity.

📊

Negative

No pathogenic variants detected; clinical correlation and further evaluation may be needed.

📊

Variant of Uncertain Significance

A variant with unknown clinical significance; genetic counseling and repeat testing recommended.

⚠️ When to Consult a Doctor:

Consult a neurologist if you experience symptoms of cerebellar ataxia, such as coordination problems, tremors, or spasticity, or if you have a family history of the condition.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Requires clinical correlation
  • ⚠Does not rule out other genetic conditions

Risks & Considerations

  • ●Minor pain or bruising at the puncture site
  • ●Rare risk of infection

Interfering Factors

  • ●Poor sample quality
  • ●Contamination
  • ●Recent blood transfusion

Frequently Asked Questions

What is the GBA2 Gene Cerebellar Ataxia with Spasticity NGS Genetic Test?
It is a Next-Generation Sequencing test that detects mutations in the GBA2 gene, which causes cerebellar ataxia with spasticity.
Who should consider getting this test?
Individuals with symptoms like uncoordinated movement, tremors, spasticity, or a family history of neurological disorders.
How is the test performed?
A blood or DNA sample is collected and analyzed using NGS technology to sequence the GBA2 gene.
What is the cost of this test?
The test costs INR 20,000, with home sample collection available across India.
Is home sample collection available?
Yes, free home collection is offered for online bookings in many cities.
How long does it take to get the results?
Reports are typically delivered in 3 to 4 weeks.
What do the test results indicate?
Results show if pathogenic variants in the GBA2 gene are present, confirming or ruling out the diagnosis.
Are there any risks associated with the test?
Risks are minimal, such as slight pain or bruising from blood draw.
Can this test detect all mutations?
NGS is highly accurate but may not detect every type of mutation; clinical correlation is advised.
What should I do if the test is positive?
Consult a neurologist or genetic counselor for management and family planning guidance.
Is genetic counseling recommended before testing?
Yes, genetic counseling helps understand implications and draw a family pedigree chart.
How accurate is the NGS technology used?
NGS is a state-of-the-art, highly accurate method for detecting genetic variants.
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.

LIMS Integration

Your Data Privacy

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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