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Hemophilia B
F9
Hemophilia B
,
Severe hemophilia B
,
Moderate hemophilia B
,
Mild hemophilia B
,
Bleeding disorder in hemophilia B carriers
Centre de Génétique Médicale UCL
Hemophilia B
F9
Hemophilia B
,
Severe hemophilia B
,
Moderate hemophilia B
,
Mild hemophilia B
,
Bleeding disorder in hemophilia B carriers
Centrum Menselijke Erfelijkheid - KUL
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
Male infertility
Yq11
,
CFTR
,
USP9Y
Partial chromosome Y deletion
,
Congenital bilateral absence of vas deferens
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
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
Cystic Fibrosis / related disorders (CFTR gene 88 hot spot mutations / newborn screening 12 hot spot mutations)
CFTR
Cystic fibrosis
,
Congenital bilateral absence of vas deferens
Centrum Medische Genetica - UZ Brussel VUB
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
Vas deferens, congenital bilateral aplasia of, X-linked (ADGRG2 gene)
ADGRG2
Congenital bilateral absence of vas deferens
Centrum Medische Genetica - UZ Brussel VUB
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
Cystic Fibrosis / related disorders
CFTR
Cystic fibrosis
,
Idiopathic bronchiectasis
,
Hereditary chronic pancreatitis
,
Congenital bilateral absence of vas deferens
Centre de Génétique Médicale UCL
Beckwith-Wiedemann syndrome
11p15.5
Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
,
Beckwith-Wiedemann syndrome due to 11p15 microdeletion
Centre de Génétique Médicale UCL
Beckwith-Wiedemann syndrome (11p15 methylation)
H19
,
KCNQ1OT1
,
IGF2
Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
,
Beckwith-Wiedemann syndrome
Centrum Menselijke Erfelijkheid - KUL
Atypical Hemolytic Uremic Syndrome (aHUS) (gene panel)
Atypical Hemolytic Uremic Syndrome (aHUS) and Complement disorders (17 genes) - IPG
Hemolytic uremic syndrome with DGKE deficiency
,
Atypical hemolytic uremic syndrome with anti-factor H antibodies
,
Atypical hemolytic uremic syndrome with complement gene abnormality
,
Atypical hemolytic-uremic syndrome with thrombomodulin anomaly
,
Atypical hemolytic-uremic syndrome with B factor anomaly
,
Atypical hemolytic-uremic syndrome with H factor anomaly
,
Atypical hemolytic-uremic syndrome with C3 anomaly
,
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
,
Atypical hemolytic-uremic syndrome with I factor anomaly
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
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