Genetic tests

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Full name	Analytes	Gene panels	Disease	Laboratory
Recessive nonsyndromic hearing loss and deafness DFNB (2 genes)	GJB2, GJB6		Rare autosomal recessive non-syndromic sensorineural deafness type DFNB	Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Deafness, autosomal recessive 1A	GJB2		Rare autosomal recessive non-syndromic sensorineural deafness type DFNB	Centrum Medische Genetica - UZ Antwerpen
Frequent hearing deficiency (4 genes)	GJB2, GJB6, STRC, OTOA		Rare autosomal recessive non-syndromic sensorineural deafness type DFNB	Centre de Génétique Humaine - Erasme ULB
Recessive nonsyndromic hearing loss and deafness (2 genes)	GJB2, GJB6	Non syndromic hearing loss and deafness (2 genes) - IPG - ULG	Rare autosomal recessive non-syndromic sensorineural deafness type DFNB	Centre de Génétique Humaine - CHU Sart-Tilman
Vascular malformations (somatic)	AKT1, AKT2, AKT3, ALK, BRAF, GNA11, GNA14, GNAQ, HRAS, IDH1, IDH2, KRAS, NRAS, PIK3CA, PIK3R1, PIK3R2, PTEN, TEK, MAP3K3, MAP2K1	Vascular malformations (somatic) (19 genes) - UCL	Capillary malformation-arteriovenous malformation, CLOVES syndrome, Maffucci syndrome, Proteus syndrome	Centre de Génétique Médicale UCL
Hypercholesterolemia (9 genes)	LDLR, APOB, PCSK9, ABCG5, ABCG8, APOE, LDLRAP1, LIPA, STAP1	Hypercholesterolemia (9 genes) - UCL	Homozygous familial hypercholesterolemia	Centre de Génétique Médicale UCL
Hypercholesterolemia, Familial (9 genes)	LDLR, APOB, APOE, PCSK9, ABCG5, ABCG8, LDLRAP1, LIPA, STAP1	Familial Hypercholesterolemia panel (9 genes) - ULG	Homozygous familial hypercholesterolemia, Heterozygous familial hypercholesterolemia (NON RARE IN EUROPE), Sitosterolemia, Cholesteryl ester storage disease	Centre de Génétique Humaine - CHU Sart-Tilman
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome (TANGO2 gene)	TANGO2		Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	Centrum Medische Genetica - UZ Brussel VUB

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