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SPTBN2 Gene Spinocerebellar ataxia type 5, autosomal dominant NGS Genetic Test

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SPTBN2 Gene Spinocerebellar ataxia type 5, autosomal dominant NGS Genetic Test

Short Name: SPTBN2 Gene SCA5 NGS Test

Also known as: Spinocerebellar ataxia type 5, SCA5, SPTBN2-related ataxia

SPTBN2 Gene Spinocerebellar ataxia type 5, autosomal dominant 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 TestAdults🏠 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 diagnose Spinocerebellar ataxia type 5 by detecting pathogenic mutations in the SPTBN2 gene using NGS technology, aiding in clinical management and genetic counseling.

Test Code
4575
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 special preparation required. Ensure proper identification and consent.

Method: Venipuncture or DNA extraction

Step 2

Laboratory Analysis

A trained phlebotomist will collect a blood sample via venipuncture or use an FTA card for one drop of blood.

Step 3

Report Delivery

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

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Consult with a genetic counselor to discuss test implications, family history, and consent.
2
During the Test:The test involves sequencing the SPTBN2 gene using NGS technology to identify mutations.
3
After the Test:Results will be available in 3-4 weeks. Genetic counseling is recommended for result interpretation and next steps.

About This Test

Who Should Get This Test

To diagnose Spinocerebellar ataxia type 5 by detecting pathogenic mutations in the SPTBN2 gene using NGS technology, aiding in clinical management and genetic counseling.

How to Prepare

  • Verify patient identity
  • Use aseptic techniques
  • Label sample correctly
  • Transport at ambient temperature

Doctor's Notes

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

"Early genetic testing for SCA5 can aid in accurate diagnosis, family planning, and management of symptoms. Consult a genetic counselor for personalized advice."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or DNA extraction

Sample Stability

Blood sample stable for 48 hours at 2-8°C
DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient sample volume
  • Improper labeling or storage

Understanding Your Results

Results indicate the presence or absence of mutations in the SPTBN2 gene associated with Spinocerebellar ataxia type 5.
Positive: Pathogenic variant detected, consistent with SCA5 diagnosis
Negative: No pathogenic variant detected, SCA5 unlikely but clinical correlation needed
Variant of uncertain significance (VUS): Further testing or family studies recommended
⚠️ When to Consult a Doctor:

If you experience symptoms of ataxia, have a family history of SCA5, or receive a positive test result, consult a neurologist or geneticist for comprehensive evaluation and management.

Limitations

  • ⚠May not detect all genetic variants or deep intronic mutations
  • ⚠Requires genetic counseling for accurate interpretation
  • ⚠Not suitable for prenatal diagnosis without additional validation

Risks & Considerations

  • ●Minor bruising or discomfort at the blood draw site
  • ●Rare risk of infection
  • ●Psychological impact of genetic results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Hemolyzed blood sample

Compare With Similar Tests

TestSPTBN2 Gene Spinocerebellar ataxia type 5, autosomal dominant NGS Genetic TestMRI BrainOther Ataxia Gene Panels
ComparisonSPTBN2 Gene Spinocerebellar ataxia type 5, autosomal dominant NGS Genetic TestImaging vs genetic diagnosis for structural abnormalitiesSingle gene vs multi-gene testing for broader coverage

Frequently Asked Questions

What is Spinocerebellar ataxia type 5 (SCA5)?
SCA5 is a rare genetic disorder caused by mutations in the SPTBN2 gene, leading to progressive problems with coordination, balance, and speech.
What causes SCA5?
SCA5 is caused by mutations in the SPTBN2 gene and is inherited in an autosomal dominant pattern, meaning one mutated copy from a parent can cause the disorder.
What are the common symptoms of SCA5?
Symptoms include difficulty with coordination and balance, speech and swallowing problems, limb weakness, tremors, and impaired fine motor skills, typically starting in adulthood.
How is SCA5 diagnosed?
Diagnosis involves clinical evaluation and genetic testing, such as the NGS Genetic Test for the SPTBN2 gene, to confirm mutations.
What is the cost of the SPTBN2 Gene SCA5 NGS Test at DNA Labs India?
The test costs INR 20,000, which includes sample collection and report generation.
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 in 3 to 4 weeks after sample collection.
Is the NGS Genetic Test accurate for SCA5?
Yes, the test uses advanced NGS technology for high accuracy in detecting SPTBN2 gene mutations.
Can this test be used for prenatal diagnosis?
This test is primarily for diagnostic purposes; prenatal testing may require additional validation and genetic counseling.
What should I do if the test result is positive?
A positive result indicates a diagnosis of SCA5. Consult a neurologist or geneticist for management and family counseling.
Is genetic counseling recommended before testing?
Yes, genetic counseling is advised to understand the test implications, family history, and potential outcomes.
How can I book the SPTBN2 Gene SCA5 NGS Test?
You can book the test online through DNA Labs India's website or contact 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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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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