Genetic tests

Full name Analytes Gene panels Disease Laboratory
Ellis-van Creveld syndrome (2 genes) EVC, EVC2 Ellis-van Creveld (2 genes) - IPG Ellis Van Creveld syndrome Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Glycogen storage disease type 9 PHKA2 Glycogen storage disease due to liver phosphorylase kinase deficiency Centre de Génétique Humaine - CHU Sart-Tilman
Parathyroid tumor (gene panel) CASR, CDC73, MEN1, RET Parathyroid tumor (4 genes) - KUL Neonatal severe primary hyperparathyroidism, Familial hypocalciuric hypercalcemia type 1, Autosomal dominant hypocalcemia Centrum Menselijke Erfelijkheid - KUL
Hypocalciuric hypercalcemia, familial type I or Hypocalcemia or Hypoparathyroidism, familial isolated (CASR gene) CASR Familial hypocalciuric hypercalcemia type 1, Autosomal dominant hypocalcemia Centrum Medische Genetica - UZ Brussel VUB
Hypocalciuric hypercalcemia, familial type I or Hypocalcemia or Hyperparathyroidism, familial isolated (CASR gene) CASR Autosomal dominant hypocalcemia, Familial hypocalciuric hypercalcemia type 1, Neonatal severe primary hyperparathyroidism Centre de Génétique Humaine - CHU Sart-Tilman
Hypocalciuric Hypercalcemia, Neonatal Severe Hyperparathyroidism, Hypocalcemia CASR Neonatal severe primary hyperparathyroidism, Familial hypocalciuric hypercalcemia type 1, Autosomal dominant hypocalcemia Centrum Menselijke Erfelijkheid - KUL
Hypocalciuric hypercalcemia, familial type II GNA11 Familial hypocalciuric hypercalcemia type 2 Centre de Génétique Humaine - CHU Sart-Tilman
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