FMR1 - fragile-X associated tremor ataxia syndrome ¹

This test is available for the following conditions:

• Conditions > Neurological > Fragile-X associated tremor ataxia syndrome

This product is also part of the following panels:

• Intellectual disability panel with genome wide CNV analysis
• Mendelian inherited disorders panel with genome wide CNV analysis

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

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