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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:
Newborn screening,
Post-natal Diagnosis,
Prenatal diagnosis
Specimen:
Peripheral (whole) blood on EDTA
Method category:
Mutation screening and sequence analysis of selected exons
Method technique:
Bi-directional Sanger Sequence analysis
Laboratory:
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
RIZIV code:
565390-565401
Accreditation (ISO 15189):
2022-10-07 / 2027-10-06
Turnaround time (maximum):
20 - 60 days
Document(s):
Created:
29 Jul 2019 - 14:29
Changed:
23 Jan 2023 - 16:06