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Weill-Marchesani syndrome

Genetic test Export to PDF
Full name:
Weill-Marchesani syndrome
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
Deletion/duplication analysis
Method technique:
Next Generation Sequencing (NGS)
Laboratory:
Centrum Medische Genetica - UZ Gent
RIZIV code:
565471-565482
Turnaround time (maximum):
8 weeks
Document(s):
Created:
02 Aug 2019 - 09:09
Changed:
14 Dec 2022 - 16:40
  • Weill-Marchesani - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ADAMTS10 100.00 1
    ADAMTS17 100.00 1
    FBN1 100.00 1
    LTBP2 100.00 1
    SMAD4 100.00 1