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CWF19L1 Gene Spinocerebellar ataxia type 17, autosomal recessive NGS Genetic Test

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CWF19L1 Gene Spinocerebellar ataxia type 17, autosomal recessive NGS Genetic Test

Short Name: SCA17 CWF19L1 NGS Test

Also known as: Spinocerebellar ataxia type 17, SCA17, CWF19L1-related ataxia

CWF19L1 Gene Spinocerebellar ataxia type 17, autosomal recessive 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 TestAdults🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

To diagnose Spinocerebellar ataxia type 17 (SCA17) by identifying mutations in the CWF19L1 gene using advanced NGS technology, aiding in clinical management and genetic counseling.

Test Code
4569
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

No specific preparation required. Provide detailed clinical history and family pedigree during genetic counseling.

Method: Venipuncture or saliva collection

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or saliva sample as per standard protocols. Ensure proper labeling.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Store sample as directed for stability.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Consult with a genetic counselor to discuss test implications. Provide comprehensive medical and family history.
2
During the Test:Sample collection is a standard procedure with minimal discomfort. Follow technician instructions.
3
After the Test:Wait for report delivery within 3-4 weeks. Discuss results with a healthcare provider for next steps.

About This Test

Who Should Get This Test

To diagnose Spinocerebellar ataxia type 17 (SCA17) by identifying mutations in the CWF19L1 gene using advanced NGS technology, aiding in clinical management and genetic counseling.

How to Prepare

  • Avoid contamination of the sample
  • Follow instructions for saliva collection if applicable
  • Ensure sample is correctly labeled with patient details

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"This NGS genetic test is essential for confirming SCA17 diagnosis and understanding inheritance patterns for family planning and management."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required for NGS analysis
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or saliva collection

Sample Stability

Blood sample stable for 48 hours at room temperature
FTA card sample stable for extended periods when stored properly
Sample Rejection Criteria:
  • Insufficient sample volume
  • Contaminated or degraded sample
  • Incorrect labeling or documentation

Understanding Your Results

Results indicate the presence or absence of mutations in the CWF19L1 gene associated with spinocerebellar ataxia type 17.
Positive result: Pathogenic mutation detected, confirming SCA17 diagnosis
Negative result: No pathogenic variants found, but clinical correlation is needed
Variant of uncertain significance: Requires further testing and genetic counseling
⚠️ When to Consult a Doctor:

If symptoms of ataxia, tremors, or cognitive decline are present, or if there is a family history of SCA17, consult a neurologist or geneticist promptly.

Limitations

  • ⚠May not detect all types of genetic mutations
  • ⚠Results require interpretation by a qualified geneticist
  • ⚠Does not rule out other genetic or neurological conditions

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Psychological impact of genetic results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality
  • ●Technical errors in sequencing process

Frequently Asked Questions

What is the CWF19L1 Gene SCA17 NGS Genetic Test?
This test uses Next Generation Sequencing to analyze the CWF19L1 gene for mutations causing spinocerebellar ataxia type 17, a rare neurological disorder.
How is the test performed?
A blood or saliva sample is collected and analyzed using NGS technology to detect genetic variants in the CWF19L1 gene.
What are the symptoms of SCA17?
Symptoms include unsteady gait, tremors, speech difficulties, eye movement problems, and cognitive impairment, typically starting in mid-adulthood.
How accurate is the NGS genetic test?
NGS provides high accuracy in detecting mutations, but results should be interpreted by a geneticist in clinical context.
What is the cost of the test?
The test costs INR 20000 in India, with home sample collection available at no extra charge.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings across numerous cities in India.
How long does it take to get results?
Reports are delivered within 3 to 4 weeks via online portal, email, or WhatsApp.
What does a positive result mean?
A positive result confirms the presence of a pathogenic mutation in the CWF19L1 gene, diagnosing SCA17.
What does a negative result mean?
A negative result indicates no pathogenic variants were found, but clinical evaluation may still be needed.
Is genetic counseling included?
Yes, a genetic counseling session is included to discuss results, inheritance patterns, and management options.
Can this test be used for prenatal diagnosis?
Consult a geneticist for prenatal testing options, as this test is primarily for diagnostic purposes.
What are the treatment options for SCA17?
There is no cure, but management includes physical therapy, medications for symptoms, and supportive care. Genetic counseling aids in family planning.
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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