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
Keratinopathic ichthyosis (epidermolytic ichtyosis, superficial epidermolytic ichthyosis, congenital reticular ichthyosiform erythroderma) (3 genes)		keratinopathic ichthyosis (3 genes) - KUL	Autosomal dominant epidermolytic ichthyosis, Superficial epidermolytic ichthyosis, Congenital reticular ichthyosiform erythroderma	Centrum Menselijke Erfelijkheid - KUL
Fragile X syndrome/POF/FXTAS - CGG repeat expansion	FMR1		Fragile X syndrome, Fragile X-associated tremor/ataxia syndrome, Symptomatic form of fragile X syndrome in female carriers	Centre de Génétique Médicale UCL
Fragile X syndrome/POF/FXTAS - CGG repeat expansion	FMR1		Fragile X syndrome, Fragile X-associated tremor/ataxia syndrome, Symptomatic form of fragile X syndrome in female carriers	Centrum Medische Genetica - UZ Gent
Fragile X syndrome/POF/FXTAS - CGG repeat expansion	FMR1		Fragile X syndrome, Fragile X-associated tremor/ataxia syndrome, Symptomatic form of fragile X syndrome in female carriers	Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Fragile X syndrome/FXPOI/FXTAS - CGG repeat expansion	FMR1		Fragile X syndrome, Fragile X-associated tremor/ataxia syndrome, Symptomatic form of fragile X syndrome in female carriers	Centrum Medische Genetica - UZ Antwerpen
Fragile X syndrome/POF/FXTAS - CGG repeat expansion	FMR1		Fragile X syndrome, Fragile X-associated tremor/ataxia syndrome, Symptomatic form of fragile X syndrome in female carriers	Centre de Génétique Humaine - Erasme ULB
Fragile X syndrome/POF/FXTAS - FMR1 gene CGG repeat expansion	FMR1		Fragile X syndrome, Fragile X-associated tremor/ataxia syndrome, Symptomatic form of fragile X syndrome in female carriers, Premature Ovarian Failure	Centrum Medische Genetica - UZ Brussel VUB
Fragile X syndrome and fragile X-associated disorders (FXTAS, FXPOI)	FMR1		Fragile X syndrome, Fragile X-associated tremor/ataxia syndrome, Symptomatic form of fragile X syndrome in female carriers	Centre de Génétique Humaine - CHU Sart-Tilman
Fragile X syndrome/FXPOI/FXTAS - FMR1 CGG repeat expansion	FMR1		Fragile X syndrome, Fragile X-associated tremor/ataxia syndrome, Symptomatic form of fragile X syndrome in female carriers	Centrum Menselijke Erfelijkheid - KUL
Deafness, X-linked	POU3F4		Rare mitochondrial non-syndromic sensorineural deafness, Xq21 microdeletion syndrome	Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Maternally inherited deafness	MT-TS1		Rare mitochondrial non-syndromic sensorineural deafness, MELAS	Centrum Medische Genetica - UZ Brussel VUB

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