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Analytes
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Disease
Laboratory
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
Gaucher disease diagnostic (GBA gene sequencing)
GBA1
Gaucher disease type 1
,
Gaucher disease type 2
,
Gaucher disease type 3
,
Fetal Gaucher disease
Centrum Medische Genetica - UZ Brussel VUB
Gaucher disease diagnostic (GBA gene hot spot mutations - p.Asn409Ser; p.Leu483Pro; c.84dupG; c.115+1G>A; )
GBA1
Gaucher disease type 1
,
Gaucher disease type 2
,
Gaucher disease type 3
,
Fetal Gaucher disease
Centrum Medische Genetica - UZ Brussel VUB
Enzymatic dosage Gaucher disease
Gaucher disease type 1
,
Gaucher disease type 2
,
Gaucher disease type 3
,
Fetal Gaucher disease
Centrum Medische Genetica - UZ Brussel VUB
Beta-globin hemoglobinopathies
HBB
Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
,
Sickle cell-beta-thalassemia disease syndrome
,
Sickle cell-hemoglobin D disease syndrome
,
Sickle cell-hemoglobin E disease syndrome
,
Sickle cell-hemoglobin C disease syndrome
,
Hemoglobin E-beta-thalassemia syndrome
,
Hemoglobin C-beta-thalassemia syndrome
,
Delta-beta-thalassemia
,
Beta-thalassemia intermedia
,
Beta-thalassemia major
,
Dominant beta-thalassemia
,
Hemoglobin C disease
,
Hemoglobin D disease
,
Hemoglobin E disease
,
Hemoglobin M disease
,
Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
,
Sickle cell anemia
Centre de Génétique Médicale UCL
Beta-globin hemoglobinopathies
HBB
Sickle cell anemia
,
Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
,
Sickle cell-hemoglobin D disease syndrome
,
Sickle cell-hemoglobin E disease syndrome
,
Sickle cell-beta-thalassemia disease syndrome
,
Sickle cell-hemoglobin C disease syndrome
,
Hemoglobin C disease
,
Hemoglobin E disease
,
Hemoglobin E-beta-thalassemia syndrome
,
Hemoglobin C-beta-thalassemia syndrome
,
Delta-beta-thalassemia
,
Beta-thalassemia intermedia
,
Beta-thalassemia major
,
Hemoglobin Lepore-beta-thalassemia syndrome
,
Hemoglobin M disease
,
Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
,
Hemoglobin D disease
Centre de Génétique Humaine - Erasme ULB
Beta-globin hemoglobinopathies, phenotype modifiers (hot spot mutations - rs7482144 (Xmn1) at promoter 158 bp 5′ upstream of HBG2 / 32C-T in the 5' UTR of the HBS1L)
BCL11A
,
HBG2
,
HBS1L
Beta-globin hemoglobinopathies, phenotype modifiers ( 3 genes) - ULB
Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
,
Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
,
Hemoglobinopathy Toms River
Centre de Génétique Humaine - Erasme ULB
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