Genetic tests

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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
Rett syndrome	MECP2		Rett syndrome, Atypical Rett syndrome	Centre de Génétique Humaine - CHU Sart-Tilman
Enzymatic dosage Pompe disease			Glycogen storage disease due to acid maltase deficiency, Glycogen storage disease due to acid maltase deficiency, infantile onset, Glycogen storage disease due to acid maltase deficiency, late-onset	Centrum Medische Genetica - UZ Brussel VUB
Pompe disease, Glycogen storage disease II (GAA gene)	GAA		Glycogen storage disease due to acid maltase deficiency, infantile onset, Glycogen storage disease due to acid maltase deficiency, late-onset	Centrum Medische Genetica - UZ Brussel VUB
Autosomal dominant non-syndromic sensorineural deafness type DFNA9 (COCH partial sequencing)	COCH		Rare autosomal dominant non-syndromic sensorineural deafness type DFNA	Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Deafness, autosomal dominant 6/14 / Wolfram syndrome	WFS1		Rare autosomal dominant non-syndromic sensorineural deafness type DFNA, Wolfram syndrome	Centrum Medische Genetica - UZ Antwerpen
Hearing loss (deafness), autosomal dominant 9 (COCH exons 4 and 5)	COCH		Rare autosomal dominant non-syndromic sensorineural deafness type DFNA	Centrum Medische Genetica - UZ Antwerpen