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  2. Achondroplasia (FGFR3 hot spot mutation - p.Gly380)

Achondroplasia (FGFR3 hot spot mutation - p.Gly380)

Genetic test Export to PDF
Full name:
Achondroplasia (FGFR3 hot spot mutation - p.Gly380)
Description:

Alias: ACH

 
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:
Bi-directional Sanger Sequence analysis
Laboratory:
Centrum Medische Genetica - UZ Brussel VUB
RIZIV code:
565390-565401
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
  • 2020 DNA Sequencing - Sanger EMQN
  • 2021 DNA Sequencing - Sanger EMQN
  • 2022 DNA Sequencing - Sanger EMQN
Turnaround time (maximum):
3 months (10 working days for prenatal diagnosis)
Document(s):
Created:
26 Jul 2019 - 12:45
Changed:
01 Mar 2023 - 16:26
URL:
https://laboguide.uzbrussel.be/laboguide#Analyses:Achondroplasie&&&&&1039&COLLE…