FRAGILE-X, CHROMO ANALYSIS
A chromosomal analysis test that identifies the presence of the Fragile X mutation, which leads to developmental disabilities. It helps in diagnosing Fragile X syndrome.
FRAGILE-X, CHROMO ANALYSIS Test in Bengaluru Overview
No special preparations needed
- Specimen
- Indications
- Cells Counted & Analysed
- Cells Karyotyped
- Karyotype
This genetic test detects mutations in the FMR1 gene, which cause Fragile X syndrome—a leading cause of intellectual disability and autism spectrum disorders.
Individuals with developmental delays, learning disabilities, autism, or a family history of Fragile X syndrome may need this test. It is also recommended for carrier screening in women planning pregnancy.
A blood sample is taken, and DNA is analyzed using PCR or Southern blot techniques to detect CGG repeat expansions in the FMR1 gene.
A normal result shows fewer than 45 CGG repeats. A premutation (55–200 repeats) indicates carrier status, while a full mutation (over 200 repeats) confirms Fragile X syndrome.
While there is no cure, early intervention, speech and behavioral therapy, and supportive care can improve quality of life.
Test code
5364B
Specimen vol. and vacutainer information
| Specimen | Vacutainer | Volume |
|---|---|---|
| Bone Marrow | Others | 1 |
| Heparin Whole Blood | Green Vacutainer | 3 |
Specimen stability information
Bone Marrow, Heparin Whole Blood
Collection instructions
Specimen To Reach Us Within 24-48 Hrs + Clinical History In Specified Format
Specimen rejection criteria
Test run frequency
Every Day TIME - 07:00
Turn around time
15 Working Days
Performing locations
Department
- Cytogenetics
CPT and Loinc codes
Package price
₹7500
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₹7500