Genetic tests

2050100

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Full name	Analytes	Gene panels	Disease	Laboratory
Stickler syndrome (gene panel)	COL2A1, COL11A1, COL9A1, COL9A2	Stickler syndrome (4 genes) - UZA	Stickler syndrome type 1, Stickler syndrome type 2, Autosomal recessive Stickler syndrome	Centrum Medische Genetica - UZ Antwerpen
Hepatorenal disorders (gene panel)	BCS1L, CC2D2A, DCDC2, EHHADH, HNF1B, INVS, MKS1, NPHP1, NPHP3, NPHP4, PKHD1, POLG, TMEM216	Hepatorenal disorders (13 genes) - UCL	GRACILE syndrome, Mitochondrial DNA-associated Leigh syndrome, Isolated complex III deficiency, Joubert syndrome, Meckel syndrome, Isolated neonatal sclerosing cholangitis, Primary Fanconi renotubular syndrome, HNF1B-related autosomal dominant tubulointerstitial kidney disease, Infantile nephronophthisis, Bardet-Biedl syndrome, Senior-Loken syndrome, Autosomal recessive polycystic kidney disease	Centre de Génétique Médicale UCL
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
Hereditary Spastic Paraplegia (94 genes)		Hereditary Spastic Paraplegia (94 genes) - KUL	Hereditary spastic paraplegia	Centrum Menselijke Erfelijkheid - KUL

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