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SNX14 Gene Cerebellar Ataxia, SNX14 Related NGS Genetic Test

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SNX14 Gene Cerebellar Ataxia, SNX14 Related NGS Genetic Test

Short Name: SNX14 Cerebellar Ataxia NGS Test

Also known as: SNX14-related cerebellar ataxia, SNX14-associated ataxia

SNX14 Gene Cerebellar Ataxia, SNX14 Related 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

🩺 Medically Reviewed By

Overview

The purpose of the SNX14 Gene Cerebellar Ataxia NGS Genetic Test is to detect mutations in the SNX14 gene for confirming diagnosis of SNX14-related cerebellar ataxia. This aids in differentiating from other ataxias, guiding treatment options, facilitating genetic counseling for family members, and supporting informed reproductive decisions.

Test Code
1535
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 to discuss test implications and draw a family pedigree chart. Ensure patient clinical history is documented.

Method: Venipuncture for blood; FTA card for single drop

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or single drop on FTA card under sterile conditions.

Step 3

Report Delivery

Sample labeled properly and transported to the laboratory at ambient room temperature. Follow up for report availability in 3-4 weeks.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling to assess risk, discuss benefits and implications, and obtain informed consent.
2
During the Test:Blood sample or DNA extraction; no special precautions during collection other than standard phlebotomy.
3
After the Test:Monitor for minor bruising at puncture site; await results in 3-4 weeks and schedule follow-up consultation.

About This Test

Who Should Get This Test

The purpose of the SNX14 Gene Cerebellar Ataxia NGS Genetic Test is to detect mutations in the SNX14 gene for confirming diagnosis of SNX14-related cerebellar ataxia. This aids in differentiating from other ataxias, guiding treatment options, facilitating genetic counseling for family members, and supporting informed reproductive decisions.

How to Prepare

  • Obtain informed consent after genetic counseling
  • Use EDTA tube for blood or FTA card for single drop
  • Label sample with patient details and test information
  • Store and transport at ambient temperature (15-25°C)

Doctor's Notes

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

"Genetic testing for SNX14-related ataxia is essential for precise diagnosis, informing family planning, and guiding management strategies for affected individuals."

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
ContainerEDTA tube or FTA card
Collection MethodVenipuncture for blood; FTA card for single drop

Sample Stability

Blood in EDTA tube: stable for 7 days at 2-8°C
FTA card: stable for years at room temperature if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Improper labeling or missing clinical information
  • Sample contaminated or degraded

Understanding Your Results

Results of the SNX14 Gene Cerebellar Ataxia NGS Genetic Test indicate the presence or absence of pathogenic mutations in the SNX14 gene. Interpretation should be done in conjunction with clinical symptoms and family history.
📊

Pathogenic variant detected

Confirms diagnosis of SNX14-related cerebellar ataxia; autosomal recessive inheritance likely. Recommend genetic counseling and family screening.

📊

No pathogenic variant detected

SNX14 mutations not found; symptoms may be due to other causes. Consider additional genetic tests or clinical evaluation.

📊

Variant of uncertain significance (VUS)

Further research or family studies needed for classification. Clinical management based on symptoms.

⚠️ When to Consult a Doctor:

Consult a neurologist or genetic counselor immediately after receiving test results to understand implications, discuss management options, and plan family screening.

Limitations

  • May not detect all possible variants in the SNX14 gene
  • Does not assess other genes associated with cerebellar ataxia
  • Results require clinical correlation and genetic counseling
  • Limited to coding regions and nearby intronic sequences

Risks & Considerations

  • Minor pain or bruising at blood draw site
  • Psychological impact from genetic results
  • Potential for variants of uncertain significance causing anxiety

Interfering Factors

  • Sample contamination or degradation
  • Low DNA yield from blood or FTA card
  • Recent blood transfusion affecting DNA purity
  • Improper sample storage or handling

Compare With Similar Tests

TestSNX14 Gene Cerebellar Ataxia, SNX14 Related NGS Genetic TestWhole Exome SequencingAtaxia Gene PanelSanger Sequencing
ComparisonSNX14 Gene Cerebellar Ataxia, SNX14 Related NGS Genetic TestBroader genetic analysis but higher cost; SNX14 test is targeted and cost-effective for suspected cases.Covers multiple ataxia-related genes; SNX14 test is specific for SNX14 mutations with faster turnaround.Traditional method for single genes; NGS offers higher throughput and sensitivity for SNX14 analysis.

Frequently Asked Questions

What is SNX14 gene cerebellar ataxia?
It is a rare genetic disorder caused by mutations in the SNX14 gene, leading to cerebellar degeneration and movement problems like coordination difficulties and speech issues.
How is the SNX14 genetic test performed?
The test uses Next-Generation Sequencing (NGS) to analyze DNA from a blood sample or FTA card for mutations in the SNX14 gene.
What are the symptoms of SNX14-related ataxia?
Symptoms include trouble with balance and walking, uncontrolled eye movements, speech difficulties, and impaired fine motor skills such as writing.
Who should consider this genetic test?
Individuals with symptoms of cerebellar ataxia, a family history of the condition, or those undergoing neurological evaluation for genetic causes.
What is the cost of the test in India?
The cost is INR 20000, which includes home sample collection and a clinical report.
Is genetic counseling required before the test?
Yes, a genetic counseling session is recommended to discuss implications, draw a family pedigree, and obtain informed consent.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What sample types are accepted?
Blood, extracted DNA, or a single drop of blood on an FTA card are accepted samples.
Are there any risks associated with the test?
Risks are minimal, such as slight bruising from blood draw, but genetic results may have psychological impacts, hence counseling is advised.
What does a positive result mean?
A positive result confirms SNX14 mutations, indicating SNX14-related cerebellar ataxia, which may require management and family screening.
Is the test covered by insurance?
Coverage varies; check with your insurance provider. Government schemes like PMJAY may not cover it, but private insurance might.
Can the test be done at home?
Yes, DNA Labs India offers free home sample collection for this test across many cities in India.
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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