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Analytes
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Disease
Laboratory
Alpha-1-antitrypsin deficiency (2 hot sopt mutations / p.Glu366Lys; p.Glu288Val )
SERPINA1
Alpha-1-antitrypsin deficiency
Centrum Menselijke Erfelijkheid - KUL
Alpha-1-antitrypsin deficiency (hot spot mutations - p.Glu342Lys (allele PI-Z), p. Glu264Val (allele PI-S))
SERPINA1
Alpha-1-antitrypsin deficiency
Centre de Génétique Humaine - CHU Sart-Tilman
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)
Adrenogenital syndrome
CYP21A2
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
,
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
Centrum Medische Genetica - UZ Antwerpen
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