1. Genetic tests
  2. Long chain 3-hydroxyl-CoA dehydrogenase deficiency (hot spot mutation - p.Glu510Gln)

Long chain 3-hydroxyl-CoA dehydrogenase deficiency (hot spot mutation - p.Glu510Gln)

Genetic test Export to PDF
Full name:
Long chain 3-hydroxyl-CoA dehydrogenase deficiency (hot spot mutation - p.Glu510Gln)
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:
565390-565401
Turnaround time (maximum):
20 - 60 days
Document(s):
Created:
07 Aug 2019 - 13:29
Changed:
20 Apr 2022 - 14:28