1. Genetic tests
  2. Thanatophoric dysplasia (hot spot mutations - p.Tyr373Cys, p.Arg248Cys, p.Ser249Cys)

Thanatophoric dysplasia (hot spot mutations - p.Tyr373Cys, p.Arg248Cys, p.Ser249Cys)

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Full name:
Thanatophoric dysplasia (hot spot mutations - p.Tyr373Cys, p.Arg248Cys, p.Ser249Cys)
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:
Centrum Medische Genetica - UZ Antwerpen
RIZIV code:
565456-565460
EQA:
  • 2021 Skeletal dysplasis GenQA (Genomics Quality Assessment)
Turnaround time (maximum):
2 months
Document(s):
Created:
21 Aug 2019 - 18:09
Changed:
22 Jun 2022 - 12:26
URL:
https://labogidsmedgen.uza.be/analyses/thanatofore-dysplasie-type-i