Fragile X Tremor / Ataxia Syndrome (FXTAS) Test
Short Name: FXTAS Test
Also known as: FMR1 Gene Test for FXTAS, Fragile X Premutation Carrier Test, FXTAS Genetic Analysis
Fragile X Tremor / Ataxia Syndrome (FXTAS) Test test available at DNA Labs India for ₹8,000. Uses PCR, Fragment Analysis on Whole blood samples. Results in Results are typically available within 5 business days from sample receipt.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of the FXTAS test is to identify the FMR1 gene premutation that causes Fragile X Tremor/Ataxia Syndrome. This test aids in diagnosing FXTAS, differentiating it from other neurological disorders, enabling early intervention, carrier testing for family members, and genetic counseling to understand risks and management options.
- Test Code
- 623
- Price
- ₹8,000
- Sample Type
- Whole blood
- Result Time
- Results are typically available within 5 business days from sample receipt.
- Fasting Required
- No
- Method
- PCR, Fragment Analysis
Sample Collection
Ensure the Genomics Clinical Information Requisition Form (Form 20) is duly filled and signed.
Method: Venipuncture
Laboratory Analysis
A blood sample will be collected via venipuncture into an EDTA tube by a trained phlebotomist.
Report Delivery
The sample will be shipped refrigerated; do not freeze. Label the tube properly with patient details.
Timeline: Results are typically available within 5 business days from sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the FXTAS test is to identify the FMR1 gene premutation that causes Fragile X Tremor/Ataxia Syndrome. This test aids in diagnosing FXTAS, differentiating it from other neurological disorders, enabling early intervention, carrier testing for family members, and genetic counseling to understand risks and management options.
How to Prepare
- Fill out Genomics Clinical Information Requisition Form (Form 20) completely
- Collect 4 mL whole blood in a lavender top EDTA tube
- Ship refrigerated at 2-8°C; do not freeze
- Ensure sample is labeled with patient name and date
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic testing for FXTAS can guide management, family counseling, and differentiate it from other neurological conditions."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Incorrect sample container (not EDTA tube)
- Insufficient sample volume (<2 mL)
- Hemolyzed, clotted, or contaminated sample
- Unlabeled or mismatched sample
Understanding Your Results
Normal (5-44 repeats)
No premutation detected; low risk for FXTAS, but clinical evaluation recommended if symptoms persist.
Premutation (55-200 repeats)
Increased risk for FXTAS and Fragile X-associated conditions; genetic counseling advised.
Full Mutation (>200 repeats)
Associated with Fragile X Syndrome; not typically linked to FXTAS, but requires further assessment.
Gray Zone (45-54 repeats)
Uncertain significance; may require monitoring or family testing.
Consult a neurologist or geneticist if you experience symptoms like tremors, ataxia, balance issues, memory loss, or have a family history of FXTAS or Fragile X disorders for appropriate testing and management.
Limitations
- ⚠Does not detect point mutations in the FMR1 gene
- ⚠May not identify all premutation carriers due to repeat size variations
- ⚠Results require correlation with clinical symptoms and family history
Risks & Considerations
- ●Minimal risks from blood draw: bruising, soreness, or rarely, infection at the puncture site
Interfering Factors
- ●Hemolyzed or insufficient blood sample
- ●Contaminated or incorrectly stored sample
- ●Recent blood transfusion or stem cell transplant
Compare With Similar Tests
| Test | Fragile X Tremor / Ataxia Syndrome (FXTAS) Test | Fragile X Syndrome Test | Spinocerebellar Ataxia Panel | Parkinson’s Disease Genetic Test |
|---|---|---|---|---|
| Comparison | Fragile X Tremor / Ataxia Syndrome (FXTAS) Test |
Frequently Asked Questions
What is FXTAS?
What are the symptoms of FXTAS?
How is FXTAS diagnosed?
What does the FXTAS test involve?
How much does the FXTAS test cost at DNA Labs India?
Is home sample collection available for this test?
What is the turnaround time for results?
Who should get tested for FXTAS?
What is the FMR1 gene?
Can FXTAS be treated?
What is the difference between FXTAS and Fragile X Syndrome?
How do I prepare for the FXTAS test?
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₹20,000Reference Laboratory Services
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