Genetic tests

Full name Analytes Gene panels Disease Laboratory
Primary immune deficiencies (gene panel) Primary immune deficiencies - UGent Centrum Medische Genetica - UZ Gent
Progressive Myoclonic Epilepsy (PME) (gene panel) Progressive Myoclonic Epilepsy - UGent Centrum Medische Genetica - UZ Gent
Prostate cancer (gene panel) Prostate cancer - UGent Familial prostate cancer Centrum Medische Genetica - UZ Gent
Pseudoxanthoma Elasticum Pseudoxanthoma Elasticum - UGent Pseudoxanthoma elasticum Centrum Medische Genetica - UZ Gent
Retinal dystrophy / RETNET (gene panel) Retinal dystrophy - UGent Centrum Medische Genetica - UZ Gent
Retinitis pigmentosa, X-Linked Retinitis pigmentosa, X-linked - UGent Centrum Medische Genetica - UZ Gent
Saethre-Chotzen syndrome TWIST1 Saethre-Chotzen syndrome Centrum Medische Genetica - UZ Gent
Skin disorders (gene panel) Skin disorders - UGent Centrum Medische Genetica - UZ Gent
Spinal muscular atrophy (SMA) type 1 (Werdnig-Hoffmann), type 2, type 3 (Kugelberg-Welander) and type 4 SMN1, SMN2 Proximal spinal muscular atrophy type 1, Proximal spinal muscular atrophy type 2, Proximal spinal muscular atrophy type 3, Proximal spinal muscular atrophy type 4 Centrum Medische Genetica - UZ Gent
Spondylo-epiphyseal dysplasia NKX3-2, COL2A1 Centrum Medische Genetica - UZ Gent
Stargardt disease ABCA4 Stargardt disease Centrum Medische Genetica - UZ Gent
Stickler syndrome (gene panel) Stickler syndrome - UGent Stickler syndrome type 1, Stickler syndrome type 2, Autosomal dominant otospondylomegaepiphyseal dysplasia Centrum Medische Genetica - UZ Gent
Stroke (gene panel) Stroke - UGent Centrum Medische Genetica - UZ Gent
Usher syndrome, type IIA USH2A Usher syndrome type 2 Centrum Medische Genetica - UZ Gent
Vascular mineralisation ANKH, NT5E, ENPP1 Centrum Medische Genetica - UZ Gent
Vitelliform Macular Dystrophy BEST1, PRPH2, IMPG1, IMPG2 Best vitelliform macular dystrophy, Adult-onset foveomacular vitelliform dystrophy Centrum Medische Genetica - UZ Gent
Von Hippel Lindau syndrome VHL Von Hippel-Lindau disease Centrum Medische Genetica - UZ Gent
Weill-Marchesani syndrome Weill-Marchesani - UGent Weill-Marchesani syndrome Centrum Medische Genetica - UZ Gent
Aarskog-Scott syndrome FGD1 Aarskog-Scott syndrome Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
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