1. Genetic tests
  2. Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome (TANGO2 gene)

Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome (TANGO2 gene)

Genetic test Export to PDF
Full name:
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome (TANGO2 gene)
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,
Skin biopsy,
Muscle biopsy,
Liver biopsy,
Amniotic fluid,
Chorionic villi,
Cell culture,
Skin fibroblasts
Method category:
Sequence analysis: entire coding region
Mutation screening and sequence analysis of selected exons
Method technique:
Next Generation Sequencing (NGS)
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
  • 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:
28 Aug 2019 - 14:28
Changed:
09 Mar 2023 - 16:21