Genetic tests

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Full name	Analytes	Gene panels	Disease	Laboratory
Waardenburg Syndrome types I and III	PAX3		Waardenburg syndrome type 1, Waardenburg syndrome type 3	Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Waardenburg syndrome (gene panel)	EDN3, EDNRB, MITF, PAX3, SNAI2, SOX10	Waardenburg syndrome (6 genes) - UZA	Waardenburg syndrome type 1, Waardenburg syndrome type 2, Waardenburg syndrome type 3, Waardenburg-Shah syndrome	Centrum Medische Genetica - UZ Antwerpen
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
Adams-Oliver syndrome (gene panel)	ARHGAP31, DOCK6, RBPJ, NOTCH1, DLL4, EOGT	Adams-Oliver (6 genes) - UZA	Adams-Oliver syndrome	Centrum Medische Genetica - UZ Antwerpen
Atypical Hemolytic Uremic Syndrome (aHUS) (gene panel)		Atypical Hemolytic Uremic Syndrome (aHUS) and Complement disorders (17 genes) - IPG	Hemolytic uremic syndrome with DGKE deficiency, Atypical hemolytic uremic syndrome with anti-factor H antibodies, Atypical hemolytic uremic syndrome with complement gene abnormality, Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, Atypical hemolytic-uremic syndrome with B factor anomaly, Atypical hemolytic-uremic syndrome with H factor anomaly, Atypical hemolytic-uremic syndrome with C3 anomaly, Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, Atypical hemolytic-uremic syndrome with I factor anomaly	Centre de Génétique-Institut de Pathologie et de Génétique (IPG)

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