Genetic tests

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Full name	Analytes	Gene panels	Disease	Laboratory
Neurofibromatosis type 1 / Legius syndrome	NF1, SPRED1		Neurofibromatosis type 1, Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion, 17q11 microdeletion syndrome, Legius syndrome	Centrum Medische Genetica - UZ Gent
X-linked creatine deficiency	SLC6A8		X-linked creatine transporter deficiency	Centre de Génétique Humaine - CHU Sart-Tilman
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
Deficiency of Vitamin K-Dependent Clotting Factors	VKORC1, GGCX		Hereditary combined deficiency of vitamin K-dependent clotting factors	Centrum Medische Genetica - UZ Gent
Pseudoxanthoma Elasticum with clotting deficiency	GGCX		Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency, Hereditary combined deficiency of vitamin K-dependent clotting factors	Centrum Medische Genetica - UZ Gent

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