Karyotyping for Detection of Fragile X Syndrome Test
Short Name: Fragile X Karyotyping
Also known as: Fragile X Syndrome genetic test, FMR1 gene karyotype
Karyotyping for Detection of Fragile X Syndrome Test test available at DNA Labs India for ₹7,500. Uses Cell culture, Chromosomal analysis on Peripheral blood samples. Results in 7-10 days. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
To detect the presence of the fragile X site on the X chromosome, aiding in the diagnosis of Fragile X Syndrome and other related genetic disorders.
- Test Code
- 3066
- Price
- ₹7,500
- Sample Type
- Peripheral blood
- Result Time
- 7-10 days
- Fasting Required
- No
- Method
- Cell culture, Chromosomal analysis
Sample Collection
Ensure a doctor's prescription is available. No specific fasting required unless advised.
Method: Venipuncture
Laboratory Analysis
A blood sample will be drawn from a vein in your arm using standard venipuncture technique.
Report Delivery
Apply pressure to the puncture site to stop bleeding. A bandage will be applied.
Timeline: 7-10 days
Patient Instructions
About This Test
Who Should Get This Test
To detect the presence of the fragile X site on the X chromosome, aiding in the diagnosis of Fragile X Syndrome and other related genetic disorders.
How to Prepare
- Bring a valid doctor's prescription
- No fasting required
- Wear loose clothing for easy access to arm
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Early detection through karyotyping is vital for managing Fragile X Syndrome and informing family planning decisions."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed sample
- Insufficient sample volume
- Incorrect container or anticoagulant
Understanding Your Results
Normal karyotype
No fragile X site detected, suggesting absence of Fragile X Syndrome mutation
Abnormal karyotype with fragile X site
Presence of fragile X site, indicating Fragile X Syndrome mutation
If you or your child exhibits symptoms of Fragile X Syndrome, or if there is a family history, consult a geneticist or gynecologist for evaluation and testing.
Limitations
- ⚠May not detect all FMR1 mutations
- ⚠Molecular tests like PCR are more specific for CGG repeat expansion
- ⚠Requires specialized laboratory equipment and expertise
Risks & Considerations
- ●Minor bruising at puncture site
- ●Rare risk of infection
- ●Fainting or dizziness during blood draw
Interfering Factors
- ●Poor sample quality
- ●Contamination
- ●Cell culture failure
Compare With Similar Tests
| Test | Karyotyping for Detection of Fragile X Syndrome | FMR1 DNA Test | Chromosomal Microarray |
|---|---|---|---|
| Comparison | Karyotyping for Detection of Fragile X Syndrome |
Frequently Asked Questions
What is Fragile X Syndrome?
How is karyotyping performed for Fragile X detection?
What is the cost of karyotyping for Fragile X Syndrome in India?
Is home sample collection available for this test?
How long does it take to get the test results?
Do I need a doctor's prescription for this test?
What are the common symptoms of Fragile X Syndrome?
Can karyotyping detect other genetic disorders besides Fragile X?
Is the karyotyping test painful?
What if the test results are abnormal?
Is genetic counseling recommended after testing?
How accurate is karyotyping for detecting Fragile X Syndrome?
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