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
Ocular albinism and oculocutaneous albinism type 1, 2, 3, 4, 6, 7, 8 (gene panel) TYR, OCA2, TYRP1, SLC45A2, SLC24A5, LRMDA, GPR143 Ocular and oculocutaneous albinism - UGent Oculocutaneous albinism type 1A, Oculocutaneous albinism type 1B, Oculocutaneous albinism type 2, Oculocutaneous albinism type 3, Oculocutaneous albinism type 4, Oculocutaneous albinism type 6, Oculocutaneous albinism type 7 Centrum Medische Genetica - UZ Gent
Hereditary Melanoma Panel (7 genes) CDKN2A, CDK4, POT1, TERT, TERF2IP, BAP1, MITF Hereditary Melanoma Panel (7 genes) - ULG Familial melanoma Centre de Génétique Humaine - CHU Sart-Tilman
Susceptibility to Cutaneous Malignant Melanoma CDK4 Familial melanoma Centre de Génétique Humaine - CHU Sart-Tilman
Melanoma (6 genes) BAP1, CDK4, CDKN2A, MC1R, MITF, POT1 Melanoma (6 genes) - UCL Familial melanoma, MITF-related melanoma and renal cell carcinoma predisposition syndrome, Uveal melanoma, Melanoma of soft tissue Centre de Génétique Médicale UCL
Cerebral cavernous malformation (gene panel) KRIT1, CCM2, PDCD10 Cerebral cavernous malformation (3 genes) - UCL, Vascular malformations (germline) (38 genes) - UCL Familial cerebral cavernous malformation Centre de Génétique Médicale UCL