1. Genetic tests
  2. Pseudoxanthoma Elasticum

Pseudoxanthoma Elasticum

This test requires filling out a specific Application Form available in the "document" field

Genetic test Export to PDF
Full name:
Pseudoxanthoma Elasticum
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)
MLPA based techniques
Laboratory:
Centrum Medische Genetica - UZ Gent
RIZIV code:
565471-565482
Turnaround time (maximum):
8 weeks
Document(s):
Created:
01 Aug 2019 - 13:36
Changed:
15 Dec 2022 - 17:26
  • Pseudoxanthoma Elasticum - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABCC6 100.00 1
    ENPP1 100.00 1
    GGCX 100.00 1
    VEGFA 100.00 1
    CYP2U1 100.00 1