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Craniosynostosis / Muenke syndrome (hot spot mutation - p.Pro250Arg)

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Full name:
Craniosynostosis / Muenke syndrome (hot spot mutation - p.Pro250Arg)
Test type:
Clinical
Test specialty:
Molecular Genetics
Test purpose:
Post-natal Diagnosis,
Prenatal diagnosis
Specimen:
Peripheral (whole) blood on EDTA,
Chorionic villi,
Amniotic fluid,
DNA
Method category:
Targeted variant analysis
Method technique:
Bi-directional Sanger Sequence analysis
Laboratory:
Centre de Génétique Humaine - CHU Sart-Tilman
RIZIV code:
565390-565401
Turnaround time (maximum):
21 days
Document(s):
Created:
21 Aug 2019 - 07:45
Changed:
09 Dec 2022 - 15:00
URL:
https://www.chuliege.be/jcms/c_525327/fr/craniostenose