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Analytes
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Disease
Laboratory
Bronchiectasis (4 genes)
CFTR
,
SCNN1A
,
SCNN1B
,
SCNN1G
Bronchiectasis (4 genes) - UCL
Idiopathic bronchiectasis
Centre de Génétique Médicale UCL
Bronchiectasies with or without elevated sweat chloride panel (5 genes)
CFTR
,
SCNN1A
,
SCNN1B
,
SCNN1G
Pulmonary/Bronchiectasies (5 genes) - IPG
Idiopathic bronchiectasis
,
Cystic fibrosis
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Coagulopathies (2 genes)
ITGA2B
,
ITGB3
Autosomal dominant macrothrombocytopenia
,
Glanzmann thrombasthenia
,
Fetal and neonatal alloimmune thrombocytopenia
Centre de Génétique Médicale UCL
Arterial Tortuosity Syndrome
SLC2A10
,
EFEMP2
Arterial tortuosity syndrome
Centrum Medische Genetica - UZ Gent
Glycogen storage disease type 0
GYS2
Glycogen storage disease due to hepatic glycogen synthase deficiency
Centre de Génétique Humaine - CHU Sart-Tilman
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