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ITPR1 Gene Spinocerebellar ataxia type 15 NGS Genetic Test

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ITPR1 Gene Spinocerebellar ataxia type 15 NGS Genetic Test

Short Name: SCA15 NGS Test

Also known as: SCA15 Genetic Test, ITPR1 Mutation Analysis

ITPR1 Gene Spinocerebellar ataxia type 15 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 TestMale and FemaleAdults🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To diagnose spinocerebellar ataxia type 15 (SCA15) by detecting mutations in the ITPR1 gene using Next-Generation Sequencing (NGS) technology.

Test Code
1831
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

No specific preparation required. Provide clinical history and family pedigree information.

Method: Venipuncture or FTA Card

Step 2

Laboratory Analysis

Blood sample drawn via venipuncture or use of FTA card with one drop of blood.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. Store sample as per instructions.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling to discuss test implications and draw family pedigree chart.
2
During the Test:Blood sample collection followed by NGS analysis in the laboratory.
3
After the Test:Report generation in 3-4 weeks; results communicated via chosen method.

About This Test

Who Should Get This Test

To diagnose spinocerebellar ataxia type 15 (SCA15) by detecting mutations in the ITPR1 gene using Next-Generation Sequencing (NGS) technology.

How to Prepare

  • Use sterile technique for blood collection
  • Label sample correctly with patient details
  • Transport sample at ambient room temperature

Doctor's Notes

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

"Early genetic testing for SCA15 is essential for accurate diagnosis, enabling appropriate management and genetic counseling for affected families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Sample Stability

Blood samples: stable at room temperature for 48 hours
Extracted DNA: stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Incorrectly labeled sample

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the ITPR1 gene.
Negative: No pathogenic variants detected; SCA15 unlikely but clinical correlation needed
Positive: Pathogenic variant detected; confirms diagnosis of SCA15
Variant of uncertain significance: Further testing or genetic counseling recommended
⚠️ When to Consult a Doctor:

If symptoms of ataxia are present, or if there is a family history of SCA15, consult a neurologist or geneticist for evaluation.

Limitations

  • ⚠Test only screens for ITPR1 gene mutations; does not detect other genetic causes of ataxia
  • ⚠May not detect all variants due to technical limitations of NGS

Risks & Considerations

  • ●Minimal risks from blood draw: bruising, infection, or discomfort at puncture site

Interfering Factors

  • ●Poor sample quality
  • ●Contamination during sample collection

Frequently Asked Questions

What is the ITPR1 Gene Spinocerebellar Ataxia Type 15 NGS Genetic Test?
It is a genetic test that uses Next-Generation Sequencing (NGS) to detect mutations in the ITPR1 gene, which causes spinocerebellar ataxia type 15 (SCA15).
Why is this test performed?
To diagnose SCA15 in individuals with symptoms like balance problems, muscle stiffness, or a family history of the disorder.
What does a positive result mean?
A positive result confirms the presence of a pathogenic mutation in the ITPR1 gene, indicating SCA15.
How is the test done?
A blood sample is collected and analyzed using NGS technology to identify mutations in the ITPR1 gene.
What is the cost of the test?
The cost is INR 20,000 in India, with home sample collection available.
Is the test covered by insurance?
It may be covered by health insurance if criteria like family history are met; check with your provider.
How long does it take to get results?
Results are typically available in 3 to 4 weeks.
What are the symptoms of SCA15?
Symptoms include balance issues, walking difficulties, muscle stiffness, tremors, speaking problems, swallowing difficulties, and vision problems.
Can this test be done at home?
Yes, free home sample collection is available for online bookings in many cities across India.
What is the accuracy of the test?
NGS technology provides high accuracy for detecting mutations in the ITPR1 gene.
Are there any risks associated with the test?
Risks are minimal, limited to those from blood draw, such as bruising or discomfort.
How should I prepare for the test?
No fasting is required. Provide clinical history and family details during genetic counseling.
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

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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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