Genetic tests

Full name Analytes Gene panels Disease Laboratory
Neurofibromatosis type 1 / Legius syndrome (2 genes) NF1, SPRED1 Neurofibromatosis type 1, Legius syndrome Centrum Menselijke Erfelijkheid - KUL
Neurofibromatosis type I NF1 Neurofibromatosis type 1 Centre de Génétique Médicale UCL
Neurofibromatosis type 1 / Legius syndrome NF1, SPRED1 Neurofibromatosis type 1, Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion, 17q11 microdeletion syndrome, Legius syndrome Centrum Medische Genetica - UZ Gent
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
Melanoma (6 genes) BAP1, CDK4, CDKN2A, MC1R, MITF, POT1 Melanoma (6 genes) - UCL Familial melanoma, MITF-related melanoma and renal cell carcinoma predisposition syndrome, Uveal melanoma, Melanoma of soft tissue Centre de Génétique Médicale UCL
Albright hereditary osteodystrophy GNAS Pseudopseudohypoparathyroidism, Pseudohypoparathyroidism type 1A, Pseudohypoparathyroidism type 1C Centre de Génétique Humaine - Erasme ULB
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