FMR1 - fragile-X syndrome ¹
This test is available for the following conditions:
- Conditions > Intellectual Disability > Fragile X syndrome (FraX)
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Analysis of the number of repeats using fragment length analysis of (triple primed) PCR product and if necessary followed by Southern blot analysis
OMIM:
309550
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane