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IFRD1 Gene Spinocerebellar ataxia type 18, autosomal dominant NGS Genetic Test

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IFRD1 Gene Spinocerebellar ataxia type 18, autosomal dominant NGS Genetic Test

Short Name: SCA18 Genetic Test

Also known as: Spinocerebellar ataxia type 18, SCA18, IFRD1-related ataxia

IFRD1 Gene Spinocerebellar ataxia type 18, 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.

Next-Generation Sequencing (NGS)🏠 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 18 by detecting mutations in the IFRD1 gene using Next-Generation Sequencing (NGS), enabling accurate identification, family risk assessment, and informed clinical management.

Test Code
4568
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 SCA18.

Step 2

Laboratory Analysis

Your sample is analyzed using NGS Technology in our laboratory.

Step 3

Report Delivery

A certified pathologist reviews and signs your report. You receive it as a secure PDF via email and WhatsApp.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Provide clinical history and undergo genetic counseling to assess family history and draw a pedigree chart.
2
During the Test:Sample collection via blood draw or alternative methods as specified.
3
After the Test:Results are delivered in 3 to 4 weeks; genetic counseling is available to discuss implications.

About This Test

Who Should Get This Test

To diagnose Spinocerebellar ataxia type 18 by detecting mutations in the IFRD1 gene using Next-Generation Sequencing (NGS), enabling accurate identification, family risk assessment, and informed clinical management.

How to Prepare

  • Sample can be blood, extracted DNA, or one drop of blood on FTA card
  • Ensure proper labeling and handling

Doctor's Notes

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

"Genetic testing for SCA18 is crucial for accurate diagnosis, family risk assessment, and informed management decisions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the IFRD1 gene associated with SCA18.
📊

Positive for pathogenic variant

Confirms diagnosis of SCA18; genetic counseling recommended for family risk assessment

📊

Negative for pathogenic variant

No mutations detected; clinical correlation advised if symptoms persist

📊

Variant of uncertain significance

Further testing or family studies may be needed; consult geneticist

⚠️ When to Consult a Doctor:

Consult a neurologist or geneticist if experiencing symptoms of SCA18, after receiving test results, or for family risk evaluation.

Limitations

  • ⚠May not detect all genetic variants or mosaicism
  • ⚠Results require clinical correlation and genetic counseling

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection

Frequently Asked Questions

What is Spinocerebellar ataxia type 18 (SCA18)?
SCA18 is a rare autosomal dominant genetic disorder caused by mutations in the IFRD1 gene, leading to progressive issues with movement and coordination.
What causes SCA18?
SCA18 is caused by mutations in the IFRD1 gene, which is inherited in an autosomal dominant pattern, meaning one copy of the mutated gene can cause the condition.
What are the symptoms of SCA18?
Symptoms include difficulty with coordination, unsteady gait, tremors, impaired fine motor skills, slurred speech, double vision, and muscle weakness or stiffness.
How is SCA18 diagnosed?
Diagnosis involves clinical evaluation, neurological exams, imaging tests like MRI, and definitive genetic testing using Next-Generation Sequencing (NGS) to detect IFRD1 gene mutations.
What is the cost of the IFRD1 gene test at DNA Labs India?
The cost is INR 20000, with free home sample collection available across India.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings in numerous cities across India.
How long does it take to get results?
Results are typically delivered within 3 to 4 weeks after sample collection.
What does a positive test result mean?
A positive result confirms the presence of a pathogenic IFRD1 gene mutation, indicating a diagnosis of SCA18. Genetic counseling is recommended for family risk assessment.
Can SCA18 be treated?
There is no cure for SCA18, but management focuses on symptom relief, physical therapy, and supportive care. Early diagnosis can help in planning treatment.
Is genetic testing necessary for family members?
Yes, genetic testing can help identify at-risk family members due to the autosomal dominant inheritance pattern, allowing for early monitoring and management.
What is NGS technology used in this test?
Next-Generation Sequencing (NGS) is a advanced genetic testing method that allows for comprehensive analysis of the IFRD1 gene to detect mutations accurately.
How accurate is the IFRD1 gene test?
The test uses state-of-the-art NGS technology for high accuracy, but results should be interpreted in clinical context with 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.

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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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