1. Genetic tests
  2. FMR1-premutation instability

FMR1-premutation instability

This test requires filling out a specific Application Form available in the "document" field

Genetic test Export to PDF
Full name:
FMR1-premutation instability
Description:

Detection of AGG interruptions in the FMR1 CGG repeat for the assessment of expansion risk of a permutation in the next generation
Test type:
Clinical
Test specialty:
Molecular Genetics
Test purpose:
Carrier diagnosis
Specimen:
Peripheral (whole) blood on EDTA
Method category:
Targeted variant analysis
Method technique:
Long read sequencing
Laboratory:
Centrum Menselijke Erfelijkheid - KUL
RIZIV code:
565471-565482
Turnaround time (maximum):
6 weeks
Document(s):
Created:
05 Oct 2021 - 11:08
Changed:
22 May 2023 - 18:58