Skip to main content
DNA Labs India

ITPR1 Gene Spinocerebellar ataxia type 29, congenital nonprogressive NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

ITPR1 Gene Spinocerebellar ataxia type 29, congenital nonprogressive NGS Genetic Test

Short Name: SCA29 Genetic Test

Also known as: SCA29, Spinocerebellar Ataxia Type 29, ITPR1-related ataxia

ITPR1 Gene Spinocerebellar ataxia type 29, congenital nonprogressive 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 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

The purpose of this test is to diagnose Spinocerebellar Ataxia Type 29 by detecting mutations in the ITPR1 gene using NGS technology, aiding in clinical confirmation, family planning, and management strategies.

Test Code
1837
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

Genetic counseling session recommended to discuss test implications and draw a family pedigree chart.

Method: Venipuncture or blood spot on FTA card

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or blood drop on FTA card at room temperature.

Step 3

Report Delivery

Sample processed in the lab; wait for 3-4 weeks for reports.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Schedule a genetic counseling session to discuss test rationale, implications, and draw a pedigree chart of affected family members.
2
During the Test:Sample collection as per instructions, typically a blood draw or blood spot on FTA card.
3
After the Test:Wait for 3-4 weeks for results; genetic counselor will explain findings and next steps.

About This Test

Who Should Get This Test

The purpose of this test is to diagnose Spinocerebellar Ataxia Type 29 by detecting mutations in the ITPR1 gene using NGS technology, aiding in clinical confirmation, family planning, and management strategies.

How to Prepare

  • Use sterile collection equipment
  • Label sample correctly with patient details
  • For FTA card, allow blood to dry completely

Doctor's Notes

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

"Early genetic testing for SCA29 is crucial for accurate diagnosis, family planning, and personalized management, especially in cases with childhood-onset ataxia symptoms."

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 (if applicable)
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or blood spot on FTA card

Sample Stability

Blood in EDTA tube: stable at room temperature for 24 hours
FTA card sample: stable at ambient temperature for extended periods
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Incorrect sample type or insufficient volume
  • Unlabeled or mislabeled samples

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the ITPR1 gene associated with SCA29.
📊

Positive for ITPR1 mutation

Confirms diagnosis of SCA29; genetic counseling recommended for family planning

📊

Negative for ITPR1 mutation

No SCA29-causing mutations detected; consider other etiologies for symptoms

📊

Variant of uncertain significance

Further testing or family studies may be needed for clarification

⚠️ When to Consult a Doctor:

If you experience symptoms of ataxia such as unsteady gait, tremors, or have a family history of SCA29, consult a neurologist or geneticist for evaluation.

Limitations

  • ⚠Only analyzes the ITPR1 gene, not other genes associated with ataxia
  • ⚠May not detect all types of genetic variations, such as large deletions
  • ⚠Results require clinical correlation and genetic counseling

Risks & Considerations

  • ●Minor discomfort or bruising at blood draw site
  • ●Psychological impact of genetic diagnosis
  • ●Potential for inconclusive results requiring further testing

Interfering Factors

  • ●Sample contamination
  • ●Hemolyzed blood sample
  • ●Insufficient DNA quantity or quality

Compare With Similar Tests

TestITPR1 Gene Spinocerebellar ataxia type 29, congenital nonprogressive NGS Genetic TestSCA1 Genetic TestSCA2 Genetic TestSCA3 Genetic TestFriedreich Ataxia Test
ComparisonITPR1 Gene Spinocerebellar ataxia type 29, congenital nonprogressive NGS Genetic Test

Frequently Asked Questions

What is Spinocerebellar Ataxia Type 29 (SCA29)?
SCA29 is a rare genetic disorder caused by mutations in the ITPR1 gene, leading to nonprogressive cerebellar ataxia affecting coordination and balance, with symptoms usually beginning in childhood.
How is SCA29 diagnosed?
SCA29 is diagnosed through genetic testing, specifically next-generation sequencing (NGS) of the ITPR1 gene, to detect pathogenic mutations.
What are the symptoms of SCA29?
Symptoms include difficulty with coordination and balance, unsteady gait, tremors, slurred speech, fine motor skill challenges, and abnormal eye movements, which are nonprogressive.
What is the cost of the ITPR1 Gene SCA29 NGS test at DNA Labs India?
The test costs INR 20,000, which includes genetic counseling and report interpretation.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection across India for online bookings.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks after sample collection.
What sample type is required for the test?
The test can be performed on blood, extracted DNA, or one drop of blood on an FTA card.
Is genetic counseling necessary before testing?
Yes, genetic counseling is recommended to draw a family pedigree chart and discuss the implications of testing and results.
Are there any risks associated with this genetic test?
Risks are minimal and include minor discomfort from blood draw, psychological impact of results, and potential for inconclusive findings.
Does insurance cover the cost of this genetic test?
Insurance coverage may vary; it is advised to check with your provider if the test is deemed medically necessary.
Can this test be used for carrier testing?
Yes, the test can identify carriers of ITPR1 mutations, useful for family planning in affected families.
What should I do after receiving the test results?
Consult with your genetic counselor or healthcare provider to interpret results and plan management or next steps.
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.

Related Tests

Angelman Syndrome Test

₹10,000

Duchenne / Becker Muscular Dystrophy (DMD / BMD) Gene Mutation Test

₹14,000

Episodic Ataxia Type 1 Hotspot Test

₹11,500

Episodic Ataxia Comprehensive Profile Hotspot Test

₹16,000

Megalencephalic Leukoencephalopathy with Subcortical Cysts Van Der Knaap and Nalband MLC Gene Hotspot Mutation Test

₹7,500

Analyzer 18 SMA 18 Test Panel

₹1,755
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.

Book Your Test

Enter your details and we'll connect you within 15 minutes.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.