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Craniosynostosis, Muenke syndrome (hot spot mutation - p.Pro250 in FGFR3 gene )

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Full name:
Craniosynostosis, Muenke syndrome (hot spot mutation - p.Pro250 in FGFR3 gene )
Test type:
Clinical
Test specialty:
Molecular Genetics
Test purpose:
Post-natal Diagnosis
Specimen:
Peripheral (whole) blood on EDTA
Method category:
Targeted variant analysis
Method technique:
Bi-directional Sanger Sequence analysis
Laboratory:
Centrum Medische Genetica - UZ Gent
RIZIV code:
565390-565401
Turnaround time (maximum):
6 weeks
Document(s):
Created:
29 Jul 2019 - 14:29
Changed:
16 May 2022 - 09:38