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Ataxia Repeat Expansion Panel NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

Ataxia Repeat Expansion Panel NGS Genetic Test

Short Name: Ataxia Repeat Expansion Panel

Also known as: Ataxia Repeat Expansion NGS Panel, SCA Repeat Expansion Panel, Cerebellar Ataxia Genetic Panel, Hereditary Ataxia Repeat Expansion Test

Ataxia Repeat Expansion Panel NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS) on Whole Blood, Extracted DNA, or One Drop Blood on FTA Card samples. Results in Reports are generally issued in 3 to 4 weeks after the sample reaches the laboratory.. 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 detect repeat expansions in genes associated with hereditary ataxia and aid in confirming a genetic diagnosis, informing prognosis, and guiding family counselling and management.

Test Code
3847
Price
₹20,000
Sample Type
Whole Blood, Extracted DNA, or One Drop Blood on FTA Card
Result Time
Reports are generally issued in 3 to 4 weeks after the sample reaches the laboratory.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. A pre-test genetic counselling session is advised. Please carry any previous neurological reports, imaging reports, and family history details.

Method: Peripheral blood draw / dried blood spot on FTA card

Step 2

Laboratory Analysis

A peripheral blood sample is collected in an EDTA tube or a single drop of blood is collected on an FTA card by a trained phlebotomist.

Step 3

Report Delivery

There are no dietary or activity restrictions after sample collection. The sample is transported to the laboratory for analysis.

Timeline: Reports are generally issued in 3 to 4 weeks after the sample reaches the laboratory.

Patient Instructions

1
Before the Test:No special preparation is needed. A genetic counselling session may be arranged to review the family tree and discuss expectations from the test.
2
During the Test:The blood sample is collected by a trained phlebotomist. The procedure is quick and usually takes only a few minutes.
3
After the Test:You can resume normal activities immediately. The laboratory will process the sample and the report will be shared on the requested communication channel.

About This Test

Who Should Get This Test

To detect repeat expansions in genes associated with hereditary ataxia and aid in confirming a genetic diagnosis, informing prognosis, and guiding family counselling and management.

How to Prepare

  • No fasting needed
  • Use EDTA vacutainer for whole blood collection
  • FTA card spot must be labelled with patient name and collection date
  • Complete the requisition form with clinical history and physician details

Doctor's Notes

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

"The clinical team should correlate genetic findings with neurological examination, family history, and imaging findings before making a final diagnosis."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeWhole Blood, Extracted DNA, or One Drop Blood on FTA Card
ContainerEDTA vacutainer or FTA card
Collection MethodPeripheral blood draw / dried blood spot on FTA card

Sample Stability

EDTA whole blood: refer to DNA Labs India collection kit transport instructions
FTA card: stable at room temperature; avoid extreme heat and humidity
Extracted DNA: transport under appropriate temperature as per laboratory guidelines
Sample Rejection Criteria:
  • Clotted or haemolysed blood sample
  • Unlabelled or mislabelled sample
  • Wrong collection tube
  • Incomplete consent or clinical information form

Understanding Your Results

Interpretation should be carried out by a clinical geneticist or neurologist in the context of the patient's clinical presentation, family history, neurological examination, and imaging findings.
📊

No pathogenic repeat expansion detected

No pathogenic repeat expansion was identified in the tested genes. Clinical correlation is required, and further genetic testing may be considered if suspicion remains high.

📊

Pathogenic repeat expansion detected

A pathogenic repeat expansion was identified in a tested gene, supporting a molecular diagnosis of hereditary ataxia. Genetic counselling and family testing are recommended.

📊

Inconclusive or VUS

A repeat expansion of uncertain significance or an intermediate allele was identified. Specialist interpretation and family segregation studies may be needed.

⚠️ When to Consult a Doctor:

If you or a family member are experiencing symptoms of ataxia or if a pathogenic repeat expansion is detected, consult a neurologist and clinical geneticist for personalised management and family counselling.

Limitations

  • ⚠The panel includes a defined set of known ataxia-related genes and does not assess all genetic causes
  • ⚠Certain repeat patterns or very large expansions may require additional repeat-primed PCR or Southern blot confirmation
  • ⚠A negative result does not exclude acquired ataxia or a rare genetic cause not covered by this panel
  • ⚠Intermediate alleles or variants of uncertain significance may require further family studies and specialist interpretation

Risks & Considerations

  • ●Minor bruising or discomfort at the blood collection site
  • ●Rare bleeding, infection, or haematoma
  • ●Psychological impact of receiving genetic test results

Interfering Factors

  • ●Poor quality or quantity of DNA from the sample
  • ●Sample degradation due to improper transport or storage
  • ●Contamination of the sample
  • ●Incomplete or inaccurate clinical and family history

Compare With Similar Tests

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Frequently Asked Questions

What is the cost of Ataxia Repeat Expansion Panel NGS Genetic Test?
The test costs INR 20000 at DNA Labs India. Free home sample collection is available for online bookings in many major cities across India.
What sample is needed for this test?
The test can be done on whole blood collected in an EDTA tube, on extracted DNA, or on one drop of blood spotted on an FTA card.
Do I need to fast before the test?
No, this is a genetic test and does not require fasting.
How long does it take to get reports?
Reports are generally available in 3 to 4 weeks after sample collection.
Which genes are covered in this panel?
The panel covers genes commonly associated with ataxia repeat expansions, including ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, TBP, ATN1, FXN, and C9orf72.
What is NGS technology?
NGS stands for Next-Generation Sequencing, a high-throughput molecular method that allows targeted analysis of multiple genes in a single test.
Can this test diagnose all types of ataxia?
No. It detects repeat expansions in a specific panel of genes. Other genetic and non-genetic causes of ataxia may need further testing.
What does a positive result mean?
A positive result means a pathogenic repeat expansion was identified in a tested gene, which can support a hereditary ataxia diagnosis. This should be discussed with a specialist.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings in many cities across India.
Will this test detect ALS or frontotemporal dementia associated with C9orf72?
The C9orf72 gene is included in the panel because repeat expansions in this gene can present with ataxia in some patients; however, this is not a replacement for dedicated ALS/FTD genetic testing.
Who should order this test?
This test is usually ordered by a neurologist, clinical geneticist, or genetic counsellor for patients with unexplained ataxia or a family history of hereditary ataxia.
Is genetic counselling part of the test?
Pre-test genetic counselling is recommended and is included as part of the testing process at DNA Labs India, especially to document family history and provide appropriate interpretation.
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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✓ 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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