Genetic tests

Full name Analytes Gene panels Disease Laboratory
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 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
Microspherophakia / Megalocornea / primary congenital Glaucoma / Weill-Marchesani syndrome 3 recessive type LTBP2 Weill-Marchesani syndrome, Glaucoma secondary to spherophakia/ectopia lentis and megalocornea Centrum Medische Genetica - UZ Gent
Weill-Marchesani syndrome Weill-Marchesani - UGent Weill-Marchesani syndrome Centrum Medische Genetica - UZ Gent
Autoimmune lymphoproliferative syndrome FASLG Autoimmune lymphoproliferative syndrome Centrum Menselijke Erfelijkheid - KUL
Autoimmune lymphoproliferative syndrome type 1A FAS Autoimmune lymphoproliferative syndrome Centrum Menselijke Erfelijkheid - KUL
Hypogonadism. Male Infertility (LHB gene) LHB Leydig cell hypoplasia due to LHB deficiency Centre de Génétique Humaine - CHU Sart-Tilman
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