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  2. Thanatophoric dysplasia types 1 and 2 (hot spot mutation - p.Lys650Glu)

Thanatophoric dysplasia types 1 and 2 (hot spot mutation - p.Lys650Glu)

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Full name:
Thanatophoric dysplasia types 1 and 2 (hot spot mutation - p.Lys650Glu)
Test type:
Clinical
Test specialty:
Molecular Genetics
Test purpose:
Post-natal 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:
565456-565460
Accreditation (ISO 15189):
2022-10-07 / 2027-10-06
Turnaround time (maximum):
20 - 60 days
Document(s):
Created:
08 Aug 2019 - 12:07
Changed:
15 Dec 2022 - 16:17