Genetic tests

2050100

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Full name	Analytes	Gene panels	Disease	Laboratory
Myoclonic epilepsy associated with ragged-red fibers (MERFF) (hot spot mutation - m.8344A>G)	MT-TK		MERRF	Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Myoclonic epilepsy associated with ragged-red fibers (MERFF) (hot spot mutation - m.8344A>G) (1st tier)	MT-TK		MERRF	Centrum Medische Genetica - UZ Brussel VUB
Myoclonic epilepsy associated with ragged-red fibers (MERFF) (full sequencing) (2nd tier)	MT-TK		MERRF	Centrum Medische Genetica - UZ Brussel VUB
Lymphoproliferative syndrome, X-linked (SH2D1A gene) / Duncan's disease	SH2D1A		X-linked lymphoproliferative disease, X-linked lymphoproliferative disease due to SH2D1A deficiency	Centrum Menselijke Erfelijkheid - KUL
Lymphoproliferative syndrome, X-linked (XIAP gene)	XIAP		X-linked lymphoproliferative disease, X-linked lymphoproliferative disease due to XIAP deficiency	Centrum Menselijke Erfelijkheid - KUL
Ciliopathy / polycystic kidney and liver diseases / ADTKD/ nephronophtisis / Bardet-Biedl syndromes and kidney cancers (gene panel)		Ciliopathy, polycystic kidney and liver diseases, ADTKD, nephronophtisis, Bardet-Biedl syndromes and kidney cancers (148genes) - IPG	Autosomal recessive polycystic kidney disease, Autosomal dominant polycystic kidney disease, Isolated polycystic liver disease, Infantile nephronophthisis, Juvenile nephronophthisis, Late-onset nephronophthisis, Bardet-Biedl syndrome	Centre de Génétique-Institut de Pathologie et de Génétique (IPG)