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Laboratory
Combined immunodeficiency (severe), X-linked
IL2RG
T-B+ severe combined immunodeficiency due to gamma chain deficiency
Centrum Menselijke Erfelijkheid - KUL
Waardenburg Syndrome types I and III
PAX3
Waardenburg syndrome type 1
,
Waardenburg syndrome type 3
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Waardenburg syndrome (gene panel)
EDN3
,
EDNRB
,
MITF
,
PAX3
,
SNAI2
,
SOX10
Waardenburg syndrome (6 genes) - UZA
Waardenburg syndrome type 1
,
Waardenburg syndrome type 2
,
Waardenburg syndrome type 3
,
Waardenburg-Shah syndrome
Centrum Medische Genetica - UZ Antwerpen
Cystic Fibrosis / related disorders (50 hot spot mutations)
CFTR
Cystic fibrosis
,
Idiopathic bronchiectasis
,
Hereditary chronic pancreatitis
,
Congenital bilateral absence of vas deferens
Centre de Génétique Médicale UCL
Pancreatitis, hereditary (7 genes)
CASR
,
CFTR
,
CLDN2
,
CPA1
,
CTRC
,
PRSS1
,
SPINK1
Pancreatitis (7 genes) - UCL
Hereditary chronic pancreatitis
Centre de Génétique Médicale UCL
Cystic Fibrosis / Congenital bilateral absence of vas deferens (CBAVD) / Idiopathic pancreatitis (50 recurrent mutations)
CFTR
Cystic fibrosis
,
Congenital bilateral absence of vas deferens
,
Hereditary chronic pancreatitis
,
Idiopathic bronchiectasis
Centrum Medische Genetica - UZ Gent
Pancreatitis, hereditary (2 genes)
PRSS1
,
SPINK1
Hereditary chronic pancreatitis
Centrum Medische Genetica - UZ Gent
Cystic Fibrosis / related disorders (50 hot spot mutations)
CFTR
Cystic fibrosis
,
Hereditary chronic pancreatitis
,
Congenital bilateral absence of vas deferens
,
Idiopathic bronchiectasis
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Cystic Fibrosis / Congenital absence of the vas deferens / CFTR-related disorders (50 hot spot mutations)
CFTR
Cystic fibrosis
,
Congenital bilateral absence of vas deferens
,
Idiopathic pulmonary fibrosis
,
Hereditary chronic pancreatitis
Centrum Medische Genetica - UZ Antwerpen
Cystic Fibrosis / Congenital absence of the vas deferens / CFTR-related disorders (Sequencing CFTR gene)
CFTR
Cystic fibrosis
,
Congenital bilateral absence of vas deferens
,
Hereditary chronic pancreatitis
,
Idiopathic bronchiectasis
Centrum Medische Genetica - UZ Antwerpen
Cystic Fibrosis / Congenital absence of the vas deferens / CFTR-related disorders (88 hot spot mutations)
CFTR
Cystic fibrosis
,
Hereditary chronic pancreatitis
,
Congenital bilateral absence of vas deferens
,
Idiopathic bronchiectasis
Centre de Génétique Humaine - Erasme ULB
Pancreatitis, hereditary (7 genes)
CASR
,
CFTR
,
CLDN2
,
CPA1
,
CTRC
,
PRSS1
,
SPINK1
Pancreatitis (7 genes) - ULB
Hereditary chronic pancreatitis
Centre de Génétique Humaine - Erasme ULB
Cystic Fibrosis / Congenital absence of the vas deferens / related disorders (50 hot spot mutations)
CFTR
Cystic fibrosis
,
Congenital bilateral absence of vas deferens
,
Hereditary chronic pancreatitis
,
Idiopathic bronchiectasis
Centrum Menselijke Erfelijkheid - KUL
Cystic Fibrosis / related disorders (50 hot spot mutations)
CFTR
Cystic fibrosis
,
Congenital bilateral absence of vas deferens
,
Idiopathic bronchiectasis
,
Hereditary chronic pancreatitis
Centre de Génétique Humaine - CHU Sart-Tilman
Cystic Fibrosis / related disorder (Full sequencing)
CFTR
Cystic fibrosis
,
Congenital bilateral absence of vas deferens
,
Hereditary chronic pancreatitis
,
Idiopathic bronchiectasis
Centre de Génétique Humaine - CHU Sart-Tilman
Pancreatitis hereditary (PRSS1 gene)
PRSS1
Hereditary chronic pancreatitis
Centre de Génétique Humaine - CHU Sart-Tilman
Cystic Fibrosis / related disorders
CFTR
Cystic fibrosis
,
Idiopathic bronchiectasis
,
Hereditary chronic pancreatitis
,
Congenital bilateral absence of vas deferens
Centre de Génétique Médicale UCL
Oligodontia-colorectal cancer syndrome
AXIN2
Oligodontia-cancer predisposition syndrome
Centre de Génétique Médicale UCL
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