Genetic tests

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Full name	Analytes	Gene panels	Disease	Laboratory
Carnitine Palmitoyltransferase type II	CPT2		Carnitine palmitoyl transferase II deficiency, myopathic form, Carnitine palmitoyl transferase II deficiency, severe infantile form, Carnitine palmitoyl transferase II deficiency, neonatal form	Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Carnitine Palmitoyl transferase type II	CPT2		Carnitine palmitoyl transferase II deficiency, severe infantile form, Carnitine palmitoyl transferase II deficiency, neonatal form, Carnitine palmitoyl transferase II deficiency, myopathic form	Centrum Medische Genetica - UZ Antwerpen
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
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

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