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Treacher Collins (gene panel)

Genetic test Export to PDF
Full name:
Treacher Collins (gene panel)
Test type:
Clinical
Test specialty:
Molecular Genetics
Test purpose:
Post-natal Diagnosis
Specimen:
Peripheral (whole) blood on EDTA
Method category:
Sequence analysis: entire coding region
Method technique:
Next Generation Sequencing (NGS)
Laboratory:
Centrum Medische Genetica - UZ Antwerpen
RIZIV code:
565471-565482
Accreditation (ISO 15189):
2024-02-15 / 2028-11-08
Turnaround time (maximum):
6 months
Document(s):
Created:
Changed:
URL:
https://labogidsmedgen.uza.be/analyses/slechthorendheid-genenpanel
  • Treacher Collins (3 genes) - UZA
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    POLR1C 100.00 0
    POLR1D 100.00 0
    TCOF1 100.00 0