Fragile X Syndrome (FMR1) Detection by PCR Test
Short Name: Fragile X PCR Test
Also known as: FXS, Martin-Bell Syndrome
Fragile X Syndrome (FMR1) Detection by PCR Test test available at DNA Labs India for ₹8,000. Uses Polymerase Chain Reaction (PCR) on Peripheral Blood samples. Results in Results are typically available within 3-4 business 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 this test is to diagnose Fragile X Syndrome by detecting mutations or expansions in the FMR1 gene, which is responsible for the condition.
- Test Code
- 3017
- Price
- ₹8,000
- Sample Type
- Peripheral Blood
- Result Time
- Results are typically available within 3-4 business days.
- Fasting Required
- No
- Method
- Polymerase Chain Reaction (PCR)
Sample Collection
No special preparation is required. Inform the healthcare provider about any medications or recent medical procedures.
Method: Venipuncture
Laboratory Analysis
A blood sample will be collected from a vein in your arm using a needle and syringe.
Report Delivery
Apply pressure to the puncture site with a cotton ball to prevent bleeding. You may experience slight bruising.
Timeline: Results are typically available within 3-4 business days.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to diagnose Fragile X Syndrome by detecting mutations or expansions in the FMR1 gene, which is responsible for the condition.
How to Prepare
- Ensure patient identification is correct
- Use aseptic technique
- Label the sample properly
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for Fragile X Syndrome is essential for early intervention and informed family planning, especially in cases with a history of developmental delays."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or lipemic sample
- Insufficient sample volume
- Improperly labeled sample
Understanding Your Results
Normal
CGG repeats within normal range (5-44), no Fragile X mutation detected.
Intermediate
CGG repeats 45-54, may be at risk for expansion in future generations.
Premutation
CGG repeats 55-200, carrier status, may lead to Fragile X-associated disorders.
Full mutation
CGG repeats >200, diagnosis of Fragile X Syndrome.
If you have a family history of Fragile X Syndrome, intellectual disability, or if your child shows symptoms such as delayed development or behavioral issues.
Limitations
- ⚠May not detect all rare mutations in FMR1
- ⚠Cannot determine the severity of symptoms
- ⚠Carrier status in females may require additional testing
Risks & Considerations
- ●Minor pain or bruising at the blood draw site
- ●Rare risk of infection or fainting
Interfering Factors
- ●Sample contamination
- ●Improper sample storage
- ●Recent blood transfusion affecting DNA quality
Compare With Similar Tests
| Test | Fragile X Syndrome (FMR1) Detection by PCR | FISH for Fragile X | Southern Blot Analysis |
|---|---|---|---|
| Comparison | Fragile X Syndrome (FMR1) Detection by PCR | FISH detects full mutations but may miss premutations; PCR is more sensitive for repeat sizing. | Southern blot can detect large expansions but is more time-consuming and less precise for repeat counts. |
Frequently Asked Questions
What is Fragile X Syndrome?
What causes Fragile X Syndrome?
How is Fragile X Syndrome diagnosed?
What is the PCR test for Fragile X?
How accurate is the PCR test for Fragile X?
What sample is required for the test?
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Is home sample collection available?
Who should get tested for Fragile X Syndrome?
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