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DNA Labs India

TWNK Gene Spinocerebellar ataxia, infantile-onset NGS Genetic Test

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TWNK Gene Spinocerebellar ataxia, infantile-onset NGS Genetic Test

Short Name: TWNK Gene SCA Test

Also known as: TWNK-related ataxia, Infantile-onset SCA, TWNK gene disorder

TWNK Gene Spinocerebellar ataxia, infantile-onset 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.

Neurological Genetic TestInfants and Pediatric🏠 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 detect pathogenic mutations in the TWNK gene that cause infantile-onset spinocerebellar ataxia, aiding in diagnosis, prognosis, and genetic counseling.

Test Code
4585
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 clinical history of the patient and undergo a genetic counseling session to draw a pedigree chart of family members affected with TWNK gene spinocerebellar ataxia.

Method: Venipuncture or saliva collection

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or saliva sample, stored at ambient room temperature.

Step 3

Report Delivery

Sample is labeled, stored appropriately, and shipped to the specialized laboratory for analysis.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history assessment.
2
During the Test:Sample collection and preparation for NGS analysis.
3
After the Test:Report generation and genetic counseling for result interpretation.

About This Test

Who Should Get This Test

The purpose of this test is to detect pathogenic mutations in the TWNK gene that cause infantile-onset spinocerebellar ataxia, aiding in diagnosis, prognosis, and genetic counseling.

How to Prepare

  • No fasting required
  • Sample should be collected in a sterile environment
  • Use EDTA tube or FTA card for blood samples
  • Maintain ambient room temperature during transport

Doctor's Notes

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

"Early genetic testing for TWNK gene mutations can aid in timely management, family planning, and personalized care for infantile-onset spinocerebellar ataxia."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 mL blood or equivalent
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or saliva collection

Sample Stability

Blood sample stable at room temperature for 24 hours
Extracted DNA stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Insufficient sample volume
  • Hemolyzed or clotted sample
  • Improperly labeled or contaminated sample

Understanding Your Results

Results are interpreted by a genetic counselor or medical geneticist to identify pathogenic variants in the TWNK gene, guiding diagnosis and management.
Positive: Pathogenic variant detected, indicating increased risk for infantile-onset spinocerebellar ataxia.
Negative: No pathogenic variants detected, but clinical correlation is advised.
Variant of uncertain significance: Further testing or family studies may be required for clarification.
⚠️ When to Consult a Doctor:

If symptoms of spinocerebellar ataxia are present, such as delayed motor development or unsteady gait, or if there is a family history of the disorder.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Results require genetic counseling
  • ⚠Not a diagnostic tool for all ataxias
  • ⚠Variant of uncertain significance may require further testing

Risks & Considerations

  • ●Minimal physical risks from blood draw
  • ●Potential psychological impact of genetic results
  • ●Risk of incidental findings

Interfering Factors

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

Frequently Asked Questions

What is TWNK Gene Spinocerebellar Ataxia?
It is a rare genetic disorder caused by mutations in the TWNK gene, leading to infantile-onset spinocerebellar ataxia affecting the nervous system.
What are the symptoms of infantile-onset SCA?
Symptoms include delayed motor development, muscle weakness, unsteady gait, tremors, nystagmus, seizures, and intellectual disability.
How is the NGS genetic test performed?
The test uses Next-Generation Sequencing to analyze the TWNK gene from a blood or saliva sample, detecting mutations associated with SCA.
What is the cost of the test in India?
The cost is INR 20,000, which includes sample collection, analysis, and genetic counseling.
Is the test covered by insurance?
Genetic testing may not be covered by health insurance in India and often requires out-of-pocket expenses.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What sample is required for the test?
A blood sample, extracted DNA, or one drop of blood on an FTA card can be used.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across India.
What does a positive result mean?
A positive result indicates the presence of a pathogenic variant in the TWNK gene, suggesting increased risk for infantile-onset SCA.
What should I do if I have a family history of SCA?
Consult a genetic counselor for risk assessment and consider genetic testing for early diagnosis.
Are there any risks associated with genetic testing?
Risks are minimal, but may include psychological impact or incidental findings; genetic counseling is provided.
How accurate is the NGS genetic test?
NGS is highly accurate for detecting mutations, but results should be interpreted in clinical context by a specialist.
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

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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