Fragile X (FMR1) Mutation Screen
Overview of Fragile X (FMR1) Mutation Screen in Amritsar
What is the 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.
Why is the test performed?
It is used for developmental delay evaluations, family planning, or to confirm a suspected diagnosis of Fragile X syndrome.
What sample is needed, and how is it collected?
A blood sample is drawn and tested using PCR and Southern blot analysis.
How are the results interpreted?
Results categorize individuals as normal, premutation carriers, or full mutation, which determines risk and clinical outcome.
Is any special preparation needed before the test?
No special preparation is necessary.
Test included
- Preliminary Report
- Fragile X (fmr1) Mutation Screen
Doctor information
Test code
RD1325
CPT and Loinc codes
Department
- Advanced Molecular Diagnostics R&d
Turn around time
8 Working Days
Test run frequency
Every Day TIME - 09:30
Performing locations
1 labs across India
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
Package price
₹7250
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₹7250