FMR1 Gene Fragile X tremor/ataxia syndrome NGS Genetic Test
Short Name: FMR1 FXTAS NGS Test
Also known as: FXTAS Genetic Test, FMR1 Gene Analysis, Fragile X Associated Tremor/Ataxia Syndrome Test
FMR1 Gene Fragile X tremor/ataxia syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next-Generation Sequencing) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 weeks 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 this test is to diagnose Fragile X tremor/ataxia syndrome (FXTAS) by detecting mutations in the FMR1 gene using next-generation sequencing (NGS) technology, facilitating early intervention, accurate genetic counseling, and differentiation from other neurological disorders.
- Test Code
- 1625
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks from sample receipt
- Fasting Required
- No
- Method
- NGS (Next-Generation Sequencing)
Sample Collection
Provide detailed clinical history and undergo genetic counseling to understand the implications of testing.
Method: Venipuncture or FTA card application
Laboratory Analysis
A blood sample will be drawn by a trained phlebotomist or a blood spot collected on an FTA card.
Report Delivery
The sample will be processed, and DNA extracted for next-generation sequencing analysis.
Timeline: 3 to 4 weeks from sample receipt
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to diagnose Fragile X tremor/ataxia syndrome (FXTAS) by detecting mutations in the FMR1 gene using next-generation sequencing (NGS) technology, facilitating early intervention, accurate genetic counseling, and differentiation from other neurological disorders.
How to Prepare
- Ensure proper labeling of the sample with patient details
- Avoid hemolysis in blood samples by gentle handling
- Use sterile collection tubes or FTA cards as specified
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic testing for FXTAS can aid in symptom management and family planning, especially for those with a family history of Fragile X disorders."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample with insufficient volume or quantity
- Contaminated or hemolyzed sample
- Incorrect sample type or improper container
Understanding Your Results
Normal
No pathogenic mutations detected in the FMR1 gene. Low risk for FXTAS.
Premutation carrier
CGG repeats in the premutation range (55-200). Increased risk for FXTAS and potential for transmission.
Full mutation
CGG repeats >200, typically associated with Fragile X syndrome. Not directly linked to FXTAS but may have other implications.
Consult a neurologist or genetic counselor if symptoms such as tremors, ataxia, or cognitive decline persist, or if there is a family history of FXTAS or Fragile X disorders.
Limitations
- ⚠May not detect all rare mutations in the FMR1 gene
- ⚠Cannot predict the severity or onset of symptoms
- ⚠Results require clinical correlation for diagnosis
Risks & Considerations
- ●Minimal risk from blood draw, such as slight pain or bruising at the injection site
- ●No significant risks associated with genetic testing itself
Interfering Factors
- ●Contaminated or degraded DNA sample
- ●Improper sample collection or handling
- ●Technical errors during NGS sequencing
Compare With Similar Tests
| Test | FMR1 Gene Fragile X tremor/ataxia syndrome NGS Genetic Test | |||
|---|---|---|---|---|
| Comparison | FMR1 Gene Fragile X tremor/ataxia syndrome NGS Genetic Test |
Frequently Asked Questions
What is Fragile X tremor/ataxia syndrome (FXTAS)?
Who should consider this genetic test?
How is the test performed?
What does the test cost?
Is home sample collection available?
How long does it take to get results?
What do the results mean?
Is the test covered by insurance?
Can FXTAS be prevented?
What is the difference between FXTAS and Fragile X syndrome?
How accurate is the NGS genetic test?
Do I need genetic counseling before testing?
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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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