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Oculopharyngeal muscular dystrophy - PABPN1 gene GCN trinucleotide repeats

Genetic test Export to PDF
Full name:
Oculopharyngeal muscular dystrophy - PABPN1 gene GCN trinucleotide repeats
Test type:
Clinical
Test specialty:
Molecular Genetics
Test purpose:
Carrier diagnosis,
Mutation confirmation,
Post-natal Diagnosis,
Pre-implantation genetic diagnosis,
Prenatal diagnosis
Specimen:
Peripheral (whole) blood on EDTA,
Amniotic fluid,
Chorionic villi,
Cell culture
Method category:
Targeted variant analysis
Method technique:
PCR based technique
Laboratory:
Centrum Medische Genetica - UZ Brussel VUB
RIZIV code:
565456-565460
Turnaround time (maximum):
3 months (10 working days for prenatal diagnosis)
Document(s):
Created:
27 Aug 2019 - 13:41
Changed:
29 Sep 2022 - 09:57
URL:
https://laboguide.uzbrussel.be/laboguide#Analyses:Oculopharyngale%20musculaire%…