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TPP1 Gene Spinocerebellar ataxia type 7, autosomal recessive NGS Genetic Test

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TPP1 Gene Spinocerebellar ataxia type 7, autosomal recessive NGS Genetic Test

Also known as: SCA7 NGS Test, TPP1 Gene Test, Spinocerebellar ataxia type 7 genetic test

TPP1 Gene Spinocerebellar ataxia type 7, 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

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

The purpose of this test is to diagnose Spinocerebellar ataxia type 7 by detecting pathogenic mutations in the TPP1 gene using next-generation sequencing (NGS) technology. It helps in confirming clinical suspicion, guiding treatment decisions, and facilitating genetic counseling for affected individuals and their families.

Test Code
4582
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 family pedigree. Genetic counseling is recommended before testing.

Step 2

Laboratory Analysis

Blood sample will be collected by a trained phlebotomist.

Step 3

Report Delivery

Sample will be processed in the laboratory for NGS analysis.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are recommended.
2
During the Test:Blood sample collection via venipuncture.
3
After the Test:Wait for laboratory analysis and report generation.

About This Test

Who Should Get This Test

The purpose of this test is to diagnose Spinocerebellar ataxia type 7 by detecting pathogenic mutations in the TPP1 gene using next-generation sequencing (NGS) technology. It helps in confirming clinical suspicion, guiding treatment decisions, and facilitating genetic counseling for affected individuals and their families.

How to Prepare

  • Ensure proper identification of the patient.
  • Use sterile collection techniques.
  • Label samples correctly.

Doctor's Notes

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

"Genetic testing for SCA7 is recommended for individuals with a family history or symptoms suggestive of the disorder. Early diagnosis can aid in 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 Stability

Blood samples should be stored at 2-8°C and transported within 24 hours.
Sample Rejection Criteria:
  • Hemolyzed or insufficient sample.
  • Incorrect labeling or documentation.

Understanding Your Results

Results of the TPP1 gene NGS test will indicate the presence or absence of pathogenic mutations associated with SCA7.
Positive result: Pathogenic mutation detected, confirming diagnosis of SCA7.
Negative result: No pathogenic mutations detected, but clinical correlation is advised.
Variant of uncertain significance: Further testing or family studies may be required.
⚠️ When to Consult a Doctor:

If you experience symptoms of ataxia, vision loss, or have a family history of SCA7, consult a neurologist or geneticist for evaluation and testing.

Limitations

  • ⚠This test may not detect all types of mutations in the TPP1 gene.
  • ⚠Results should be interpreted in conjunction with clinical findings.

Risks & Considerations

  • ●Minimal physical risk from blood draw.
  • ●Potential psychological impact of genetic results; genetic counseling recommended.

Frequently Asked Questions

What is Spinocerebellar ataxia type 7 (SCA7)?
SCA7 is a rare genetic disorder affecting the nervous system, causing progressive ataxia, vision loss, and other neurological symptoms due to TPP1 gene mutations.
What causes SCA7?
SCA7 is caused by mutations in the TPP1 gene, which leads to enzyme deficiency and accumulation of cellular waste in nerve cells.
What are the symptoms of SCA7?
Symptoms include balance and coordination problems, vision loss, speech difficulties, limb weakness, tremors, and psychological issues like depression.
How is SCA7 diagnosed?
Diagnosis involves clinical evaluation and genetic testing, such as NGS analysis of the TPP1 gene, to detect mutations.
What is the TPP1 gene NGS test?
It is a next-generation sequencing test that analyzes the TPP1 gene for mutations associated with SCA7, providing detailed genetic information.
How much does the test cost?
The cost at DNA Labs India is INR 20,000, with potential discounts for online bookings.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test across many cities in India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What do the test results mean?
Results indicate the presence or absence of pathogenic TPP1 gene mutations. A positive result confirms SCA7, while negative or uncertain results require clinical correlation.
Is genetic counseling necessary?
Yes, genetic counseling is recommended before and after testing to understand implications, risks, and family planning.
Can SCA7 be treated?
There is no cure for SCA7, but management focuses on symptom relief, physical therapy, and supportive care. Early diagnosis aids in planning.
How can I book the test?
You can book the test online through DNA Labs India's website or by contacting their customer service for assistance.
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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✓ 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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