1. Genetic tests
  2. Thanatophoric dysplasia (hot spot mutations - p.Arg248 / p.Gly370 / p.Ser371 / p.Tyr373 / p.Lys650 / p.X806 in FGFR3 gene)

Thanatophoric dysplasia (hot spot mutations - p.Arg248 / p.Gly370 / p.Ser371 / p.Tyr373 / p.Lys650 / p.X806 in FGFR3 gene)

Genetic test Export to PDF
Full name:
Thanatophoric dysplasia (hot spot mutations - p.Arg248 / p.Gly370 / p.Ser371 / p.Tyr373 / p.Lys650 / p.X806 in FGFR3 gene)
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 Gent
RIZIV code:
565456-565460
Turnaround time (maximum):
6 weeks
Document(s):
Created:
02 Aug 2019 - 08:42
Changed:
20 May 2022 - 11:07