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Analytes
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Disease
Laboratory
Myeloid/lymphoid neoplasms with germline predisposition
Centre de Génétique Humaine - CHU Sart-Tilman
Erythrocytoses, polycythémies, thrombocytoses et neutropénies congénitales (gene panel)
Erythocyoses, polycythémies, thrombocytoses congénitales (gene panel) - ULG
Centre de Génétique Humaine - CHU Sart-Tilman
Inherited Kidney Diseases (Gene Panel)
Panel Nephro-ULG-V1
Centre de Génétique Humaine - CHU Sart-Tilman
Leri-Weill dyschondrosteosis / ISS
SHOX
Léri-Weill dyschondrosteosis
,
SHOX-related short stature
Centre de Génétique Humaine - CHU Sart-Tilman
Obesitas, Monogenic early onset
MC4R
Obesity due to melanocortin 4 receptor deficiency
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
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