1. Genetic tests
  2. Medium chain acyl-CoA dehydrogenase deficiency (MCAD hot spot mutation - p.Lys329Glu)

Medium chain acyl-CoA dehydrogenase deficiency (MCAD hot spot mutation - p.Lys329Glu)

Genetic test Export to PDF
Full name:
Medium chain acyl-CoA dehydrogenase deficiency (MCAD hot spot mutation - p.Lys329Glu)
Test type:
Clinical
Test specialty:
Molecular Genetics
Test purpose:
Carrier diagnosis,
Post-natal Diagnosis,
Prenatal diagnosis
Specimen:
Peripheral (whole) blood on EDTA,
Amniotic fluid,
Chorionic villi
Method category:
Targeted variant analysis
Method technique:
PCR based technique
Laboratory:
Centre de Génétique Humaine - CHU Sart-Tilman
RIZIV code:
565390-565401
Turnaround time (maximum):
10 days
Document(s):
Created:
02 Sep 2019 - 07:55
Changed:
11 Dec 2023 - 15:13
URL:
https://www.chuliege.be/jcms/c_525401/fr/deficit-en-medium-chain-coa-dehydrogen…