1. Genetic tests
  2. Gaucher disease diagnostic (GBA gene hot spot mutations - p.Asn409Ser; p.Leu483Pro; c.84dupG; c.115+1G>A; )

Gaucher disease diagnostic (GBA gene hot spot mutations - p.Asn409Ser; p.Leu483Pro; c.84dupG; c.115+1G>A; )

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Full name:
Gaucher disease diagnostic (GBA gene hot spot mutations - p.Asn409Ser; p.Leu483Pro; c.84dupG; c.115+1G>A; )
Test type:
Clinical
Test specialty:
Molecular Genetics
Test purpose:
Carrier diagnosis,
Mutation confirmation,
Post-natal Diagnosis,
Prenatal diagnosis
Specimen:
Peripheral (whole) blood on EDTA,
Amniotic fluid,
Chorionic villi,
Cell culture
Method category:
Targeted variant analysis
Method technique:
Bi-directional Sanger Sequence analysis
Laboratory:
Centrum Medische Genetica - UZ Brussel VUB
RIZIV code:
565456-565460
EQA:
  • 2015 DNA Sequencing - Sanger EMQN
  • 2016 DNA Sequencing - Sanger EMQN
  • 2017 DNA Sequencing - Sanger EMQN
  • 2018 DNA Sequencing - Sanger EMQN
  • 2019 DNA Sequencing - Sanger EMQN
  • 2022 DNA Sequencing - Sanger EMQN
Turnaround time (maximum):
3 months (10 working days for prenatal diagnosis)
Document(s):
Created:
26 Aug 2019 - 09:31
Changed:
09 Mar 2023 - 15:53
URL:
https://laboguide.uzbrussel.be/laboguide#Analyses:Ziekte%20van%20Gaucher&&&&&99…