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  2. Fragile X syndrome and fragile X-associated disorders (FXTAS, FXPOI)

Fragile X syndrome and fragile X-associated disorders (FXTAS, FXPOI)

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Full name:
Fragile X syndrome and fragile X-associated disorders (FXTAS, FXPOI)
Description:

Identification of the number of cytosine-guanine-guanine (CGG) repeats in the fragile X mental retardation-1 (FMR1) gene by polymerase chain reaction and capillary electrophoresis.

Detremination of of methylation status in the FMR1 gene by mPCR.
Test type:
Clinical
Test specialty:
Molecular Genetics
Test purpose:
Carrier diagnosis,
Post-natal Diagnosis,
Prenatal diagnosis
Specimen:
Peripheral (whole) blood on EDTA,
Chorionic villi,
Amniotic fluid
Method category:
Targeted variant analysis
Method technique:
PCR based technique
Southern blot
Laboratory:
Centre de Génétique Humaine - CHU Sart-Tilman
RIZIV code:
565375-565386
EQA:
  • 2015 Fragile X Syndrome EMQN
  • 2017 Fragile X Syndrome EMQN
  • 2019 Fragile X Syndrome EMQN
  • 2020 Fragile X Syndrome EMQN
  • 2021 Fragile X Syndrome EMQN
  • 2022 Fragile X Syndrome EMQN
  • 2023 Fragile X Syndrome EMQN
Accreditation (ISO 15189):
2022-02-24 / 2026-02-23
Turnaround time (maximum):
15 days
Document(s):
Created:
19 Jul 2019 - 10:55
Changed:
16 Jan 2024 - 13:31
URL:
https://www.chuliege.be/jcms/c_525440/fr/syndrome-de-l-x-fragile