FRAGILE X (FMR1) MUTATION SCREEN, EDTA BLOOD
This genetic test screens for mutations in the FMR1 gene, which causes Fragile X syndrome. It is important for diagnosing intellectual disabilities and developmental delays.
FRAGILE X (FMR1) MUTATION SCREEN, EDTA BLOOD Test in Bengaluru Overview
No special preparations needed
- Preliminary Report
- Fragile X (fmr1) Mutation Screen
This test screens for mutations in the FMR1 gene, which can cause Fragile X syndrome, a genetic condition leading to intellectual disability.
It is used for developmental delay evaluations, family planning, or to confirm a suspected diagnosis of Fragile X syndrome.
A blood sample is drawn and tested using PCR and Southern blot analysis.
Results categorize individuals as normal, premutation carriers, or full mutation, which determines risk and clinical outcome.
No special preparation is necessary.
Test code
RD1325
Specimen vol. and vacutainer information
| Specimen | Vacutainer | Volume |
|---|---|---|
| Edta Whole Blood | Lavender Vacutainer | 3 ml |
Specimen stability information
Edta Whole Blood
Collection instructions
Clinical History
Specimen rejection criteria
Test run frequency
Every Day TIME - 09:30
Turn around time
8 Working Days
Performing locations
Department
- Advanced Molecular Diagnostics R&d
CPT and Loinc codes
Package price
₹7250
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₹7250