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TDP1 Gene Spinocerebellar ataxia with axonal neuropathy, autosomal recessive NGS Genetic Test

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TDP1 Gene Spinocerebellar ataxia with axonal neuropathy, autosomal recessive NGS Genetic Test

Short Name: TDP1 SCAN1 NGS Test

Also known as: SCAN1, Spinocerebellar ataxia with axonal neuropathy type 1

TDP1 Gene Spinocerebellar ataxia with axonal neuropathy, autosomal recessive 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

🩺 Medically Reviewed By

Overview

To diagnose Spinocerebellar ataxia with axonal neuropathy, autosomal recessive (SCAN1) by detecting mutations in the TDP1 gene using Next-Generation Sequencing (NGS) technology.

Test Code
4579
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

Clinical history of the patient and a genetic counselling session to draw a pedigree chart of affected family members.

Step 2

Laboratory Analysis

Your sample is analyzed using NGS Technology in our laboratory.

Step 3

Report Delivery

A certified pathologist reviews and signs your report. You receive it as a secure PDF via email and WhatsApp.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Provide clinical history and undergo genetic counselling. No fasting required.
2
During the Test:Sample collection via blood draw or alternative method.
3
After the Test:Results available in 3 to 4 weeks; follow up with healthcare provider for interpretation.

About This Test

Who Should Get This Test

To diagnose Spinocerebellar ataxia with axonal neuropathy, autosomal recessive (SCAN1) by detecting mutations in the TDP1 gene using Next-Generation Sequencing (NGS) technology.

How to Prepare

  • Sample type: Blood, Extracted DNA, or One drop Blood on FTA Card
  • Collection method: Venipuncture or alternative based on sample type

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Early diagnosis through genetic testing can help in managing symptoms and improving quality of life for patients with SCAN1."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card

Understanding Your Results

Results indicate the presence or absence of mutations in the TDP1 gene associated with SCAN1.
📊

Positive

Pathogenic variant(s) detected in TDP1 gene, confirming diagnosis of SCAN1.

📊

Negative

No pathogenic variants detected; SCAN1 unlikely but clinical correlation recommended.

📊

Variant of uncertain significance

Further testing or clinical evaluation may be needed.

⚠️ When to Consult a Doctor:

If experiencing symptoms such as coordination difficulties, walking problems, numbness, muscle weakness, or other neurological issues, consult a healthcare provider for evaluation and possible genetic testing.

Risks & Considerations

  • Minimal physical risks from blood draw
  • Potential psychological impact of genetic results

Frequently Asked Questions

What is SCAN1?
Spinocerebellar ataxia with axonal neuropathy, autosomal recessive (SCAN1) is a rare genetic disorder affecting the nervous system, caused by mutations in the TDP1 gene.
What causes SCAN1?
SCAN1 is caused by mutations in the TDP1 gene, which impairs DNA repair in nerve cells, leading to neurological symptoms.
What are the symptoms of SCAN1?
Symptoms include coordination difficulties, walking problems, numbness, muscle weakness, speech issues, vision and hearing loss, and swallowing difficulties.
How is SCAN1 diagnosed?
Diagnosis involves clinical evaluation, genetic testing (such as NGS), and imaging studies like MRI or CT scans.
What is the TDP1 gene?
The TDP1 gene provides instructions for making an enzyme that helps repair DNA damage in cells.
What does the NGS Genetic Test involve?
The test uses Next-Generation Sequencing to analyze the TDP1 gene for mutations associated with SCAN1.
How much does the test cost?
The cost is INR 20000.0 in India, with possible variations based on facility and additional testing.
Is home sample collection available?
Yes, free home sample collection is available for online bookings across many cities in India.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
Is the test covered by insurance?
Coverage depends on insurance plans; check with your provider. Government schemes like PMJAY may not cover it.
What should I do before the test?
Provide clinical history and undergo genetic counselling. No fasting is required.
Who should consider this test?
Individuals with symptoms of SCAN1 or a family history of the disorder should consider genetic testing.
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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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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