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Analytes
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Laboratory
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, Sickle cell anemia, Sickle cell disorder (hot spot mutation - p.Glu6Val, p.Glu6Lys)
HBB
Sickle cell anemia
Centre de Génétique Humaine - Erasme ULB
Beta-globin hemoglobinopathies, Sickle cell anemia (HbS) (HBB hot spot mutation - p.Glu6Val)
HBB
Sickle cell anemia
Centrum Medische Genetica - UZ Brussel VUB
Beta-globin hemoglobinopathies (full sequencing)
HBB
Sickle cell anemia
,
Sickle cell-hemoglobin D disease syndrome
,
Sickle cell-hemoglobin E disease syndrome
,
Sickle cell-beta-thalassemia disease syndrome
,
Hemoglobin C disease
,
Hemoglobin E disease
,
Hemoglobin M disease
,
Delta-beta-thalassemia
,
Dominant beta-thalassemia
Centre de Génétique Humaine - CHU Sart-Tilman
Beta-globin hemoglobinopathies (Hot-spot mutations : Sickle cell disease (HBS), hemoglobin C, hemoglobin E or Hemoglobin D)
HBB
Sickle cell anemia
,
Hemoglobin C disease
,
Hemoglobin E disease
,
Hemoglobin D disease
,
Delta-beta-thalassemia
,
Sickle cell-beta-thalassemia disease syndrome
,
Beta-thalassemia intermedia
,
Beta-thalassemia major
Centre de Génétique Humaine - CHU Sart-Tilman
Prostate cancer (gene panel)
Prostate cancer - UGent
Familial prostate cancer
Centrum Medische Genetica - UZ Gent
Prostate cancer susceptibility (HOXB13 - hot spot mutation p.(Gly84Glu))
HOXB13
Familial prostate cancer
Centre de Génétique Humaine - CHU Sart-Tilman
Prostate cancer
HOXB13
Familial prostate cancer
Centre de Génétique Médicale UCL
Lipodystrophy (2 genes)
AGPAT2
,
BSCL2
Lipodystrophy (2 genes) - IPG
Congenital generalized lipodystrophy
,
Severe neurodegenerative syndrome with lipodystrophy
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Congenital generalized lipodystrophy type 2 / Spastic paraplegia-17 / Hereditary motor neuronopathy type VA / Silver spastic paraplegia syndrome (hot spot mutation - p.Asn88Ser; p.Ser90; p.Arg96His)
BSCL2
Autosomal dominant spastic paraplegia type 17
,
Severe neurodegenerative syndrome with lipodystrophy
,
Distal hereditary motor neuropathy type 5
,
Congenital generalized lipodystrophy
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Hemochromatosis hereditary type 1 (hot spot mutations - p.Cys282Tyr; p.His63Asp)
HFE
Symptomatic form of hemochromatosis type 1
,
Hemochromatosis type 1 (NON RARE IN EUROPE)
Centre de Génétique Médicale UCL
Hemochromatosis hereditary type 1 (hot spot mutations - p.Cys282Tyr; p.His63Asp in HFE gene)
HFE
Symptomatic form of hemochromatosis type 1
,
Hemochromatosis type 1 (NON RARE IN EUROPE)
Centrum Medische Genetica - UZ Gent
Hemochromatosis hereditary type 1 (hot spot mutations p.Cys282Tyr; p.His63Asp)
HFE
Symptomatic form of hemochromatosis type 1
,
Hemochromatosis type 1 (NON RARE IN EUROPE)
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Hemochromatosis hereditary type 1 (hot spot mutations - p.Cys282Tyr; p.His63Asp)
HFE
Symptomatic form of hemochromatosis type 1
,
Hemochromatosis type 1 (NON RARE IN EUROPE)
Centrum Medische Genetica - UZ Antwerpen
Hemochromatosis hereditary type 1 (hot spot mutations - p.Cys282Tyr; p.His63Asp)
HFE
Symptomatic form of hemochromatosis type 1
,
Hemochromatosis type 1 (NON RARE IN EUROPE)
Centre de Génétique Humaine - Erasme ULB
Hemochromatosis hereditary type 1 (HFE gene hot spot mutations - p.Cys282Tyr; p.His63Asp)
HFE
Symptomatic form of hemochromatosis type 1
,
Hemochromatosis type 1 (NON RARE IN EUROPE)
Centrum Medische Genetica - UZ Brussel VUB
Hemochromatosis hereditary type 1 (HFE gene - hot spot mutations - p.Cys282Tyr; p.His63Asp)
HFE
Symptomatic form of hemochromatosis type 1
,
Hemochromatosis type 1 (NON RARE IN EUROPE)
Centre de Génétique Humaine - CHU Sart-Tilman
Hemochromatosis hereditary type 1 (hot spot mutations - p.Cys282Tyr; p.His63Asp)
HFE
Symptomatic form of hemochromatosis type 1
,
Hemochromatosis type 1 (NON RARE IN EUROPE)
Centrum Menselijke Erfelijkheid - KUL
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