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Craniosynostosis syndrome (hot spot mutation - p.Pro252Arg)

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Full name:
Craniosynostosis syndrome (hot spot mutation - p.Pro252Arg)
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 Antwerpen
RIZIV code:
565390-565401
Turnaround time (maximum):
2 months
Document(s):
Created:
20 Aug 2019 - 11:57
Changed:
25 Jan 2023 - 11:38
URL:
https://labogidsmedgen.uza.be/analyses/pfeiffer-syndroom