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  2. Achondroplasia (hot spot mutation - p.Gly380)

Achondroplasia (hot spot mutation - p.Gly380)

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Full name:
Achondroplasia (hot spot mutation - p.Gly380)
Test type:
Clinical
Test specialty:
Molecular Genetics
Test purpose:
Post-natal Diagnosis,
Prenatal diagnosis
Specimen:
Peripheral (whole) blood on EDTA,
Amniotic fluid,
Chorionic villi
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
Turnaround time (maximum):
20 - 60 days
Document(s):
Created:
26 Jul 2019 - 12:45
Changed:
15 Dec 2022 - 15:43