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Alagille syndrome (2 genes)

Genetic test Export to PDF
Full name:
Alagille syndrome (2 genes)
Test type:
Clinical
Test specialty:
Molecular Genetics
Test purpose:
Carrier diagnosis,
Post-natal Diagnosis,
Prenatal diagnosis
Specimen:
Peripheral (whole) blood on EDTA,
Chorionic villi,
Amniotic fluid
Method category:
Sequence analysis: entire coding region
Deletion/duplication analysis
Method technique:
Next Generation Sequencing (NGS)
Laboratory:
Centre de Génétique Médicale UCL
RIZIV code:
565471-565482
Accreditation (ISO 15189):
2022-12-22 / 2027-12-21
Turnaround time (maximum):
3 months
Document(s):
Created:
24 Jul 2019 - 11:01
Changed:
24 Jan 2023 - 14:34
  • Alagille syndrome (2 genes) - UCL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    JAG1 100.00 1 Part of Custom Gastro-pneumo panel
    NOTCH2 100.00 1 Part of Custom Gastro-pneumo panel