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  2. Pulmonary Arterial Hypertension / Rendu Osler Weber disease (gene panel - 24 genes)

Pulmonary Arterial Hypertension / Rendu Osler Weber disease (gene panel - 24 genes)

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Full name:
Pulmonary Arterial Hypertension / Rendu Osler Weber disease (gene panel - 24 genes)
Test type:
Clinical
Test specialty:
Molecular Genetics
Test purpose:
Post-natal Diagnosis,
Predictive and Pre-symptomatic diagnosis
Specimen:
Peripheral (whole) blood on EDTA
Method category:
Sequence analysis: entire coding region
Whole Exome Sequencing (WES)
Deletion/duplication analysis
Method technique:
Next Generation Sequencing (NGS)
MLPA based techniques
Laboratory:
Centre de Génétique Humaine - Erasme ULB
RIZIV code:
565493-565504
Turnaround time (maximum):
3 months
Document(s):
Created:
23 Aug 2019 - 08:00
Changed:
18 Aug 2023 - 09:33
URL:
https://ulbgenetics.be/compendium-des-analyses/#GM46
  • Pulmonary Arterial Hypertension (24 genes) - ULB
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    BMPR2 100.00 0
    ACVRL1 100.00 0
    ENG 100.00 0
    CAV1 100.00 0
    SMAD9 100.00 0
    KCNK3 94.00 0
    BMPR1B 100.00 0
    SMAD4 98.00 0
    EIF2AK4 100.00 0
    TBX4 95.00 0
    GDF2 100.00 0