Fragile X (FMR1) Carrier Test
Short Name: FMR1 Carrier Test
Also known as: FMR1 Mutation Test, Fragile X DNA Test
Fragile X (FMR1) Carrier Test test available at DNA Labs India for ₹12,000. Uses Sanger Sequencing on Blood samples. Results in 12-15 days. 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 Fragile X Carrier Test is to identify individuals who carry mutations in the FMR1 gene, which can lead to Fragile X Syndrome or related disorders. This test aids in genetic counseling, family planning, and early intervention for affected individuals.
- Test Code
- 620
- Price
- ₹12,000
- Sample Type
- Blood
- Result Time
- 12-15 days
- Fasting Required
- No
- Method
- Sanger Sequencing
Sample Collection
A duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory prior to sample collection.
Method: Venipuncture
Laboratory Analysis
A blood sample is collected via venipuncture from a vein in the arm.
Report Delivery
Apply pressure to the puncture site with a cotton ball to prevent bruising. Avoid heavy lifting for a few hours.
Timeline: 12-15 days
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the Fragile X Carrier Test is to identify individuals who carry mutations in the FMR1 gene, which can lead to Fragile X Syndrome or related disorders. This test aids in genetic counseling, family planning, and early intervention for affected individuals.
How to Prepare
- Complete Form 20 with accurate medical and family history
- Ensure the patient is comfortable and relaxed during blood draw
- Label the sample correctly with patient details
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Carrier testing for Fragile X is essential for informed family planning and early intervention in affected individuals."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Incorrectly labeled or unlabeled sample
- Sample not stored properly
Understanding Your Results
Normal result, no Fragile X mutation detected
Range: <45 repeats
Intermediate result, low risk but may be at risk for expansion in future generations
Range: 45-54 repeats
Premutation carrier, risk for Fragile X-associated conditions and potential transmission to offspring
Range: 55-200 repeats
Full mutation, affected with Fragile X Syndrome
Range: >200 repeats
Consult a doctor if results indicate premutation or full mutation, or if symptoms of Fragile X Syndrome are present. Genetic counseling is recommended for carriers and families.
Limitations
- ⚠Cannot detect all possible FMR1 gene mutations
- ⚠Does not predict the severity of symptoms in affected individuals
- ⚠May require confirmation with additional genetic testing
Risks & Considerations
- ●Minor bruising or pain at the puncture site
- ●Rare risk of infection
- ●Light-headedness or dizziness during blood draw
Interfering Factors
- ●Contaminated or degraded blood sample
- ●Improper sample storage or handling
- ●Hemolyzed sample
Compare With Similar Tests
| Test | Fragile X (FMR1) Carrier Test | Fragile X Full Gene Analysis | Genetic Carrier Screening Panel |
|---|---|---|---|
| Comparison | Fragile X (FMR1) Carrier Test | More comprehensive analysis of the entire FMR1 gene for detailed mutation detection. | Includes multiple genes for various hereditary conditions, not specific to Fragile X. |
Frequently Asked Questions
What is Fragile X Syndrome?
Who should consider getting the Fragile X Carrier Test?
How is the Fragile X Carrier Test performed?
What does a positive result for premutation mean?
Is the test covered by insurance?
How long does it take to get the test results?
What is the cost of the Fragile X Carrier Test?
Is home sample collection available?
Can this test be done during pregnancy?
What is the difference between premutation and full mutation?
How accurate is the Fragile X Carrier Test?
What should I do if I am a carrier of Fragile X?
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