Genetic tests

Full name Analytes Gene panels Disease Laboratory
Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure (hot spot mutation - 1555A-G in MT-RNR1) MT-RNR1 Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure (hot spot mutation - 1555A-G in MT-RNR1) MT-RNR1 Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure Centrum Medische Genetica - UZ Antwerpen
Cardiofaciocutaneous syndrome (5 genes) HRAS, KRAS, BRAF, MAP2K2, MAP2K1 Cardiofaciocutaneous syndrome Centre de Génétique Humaine - CHU Sart-Tilman
Costello Syndrome- Schimmelpenning syndrome HRAS Costello syndrome 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
Usher syndrome (gene panel) CDH23, CLRN1, WHRN, ADGRV1, MYO7A, PCDH15, PDZD7, USH1C, USH1G, USH2A Usher syndrome (10 genes) - UZA Centrum Medische Genetica - UZ Antwerpen
Hyperoxaluria AGXT, GRHPR, HOGA1 Primary hyperoxaluria type 1, Primary hyperoxaluria type 2, Primary hyperoxaluria type 3 Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
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