Genetic tests

Full name Analytes Gene panels Disease Laboratory
Macrozoospermia (AURKC gene) AURKC Male infertility due to large-headed multiflagellar polyploid spermatozoa Centrum Medische Genetica - UZ Brussel VUB
Torsion dystonia 1 (DYT1) (hotspot mutation - c.907_909 delGAG) TOR1A Early-onset generalized limb-onset dystonia Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Torsion dystonia 1 (DYT1) (hot spot mutation - c.907_909delGAG) TOR1A Early-onset generalized limb-onset dystonia Centrum Menselijke Erfelijkheid - KUL
Torsion dystonia 1 (hot spot mutation - c.907_909delGAG) TOR1A Early-onset generalized limb-onset dystonia Centre de Génétique Humaine - Erasme ULB
Hereditary Polyposis Panel (11 genes) - ULG APC, MUTYH, BMPR1A, NTHL1, SMAD4, MSH3, POLE, POLD1, PTEN, STK11, GREM1 Hereditary Polyposis Panel (11 genes) - ULG Familial adenomatous polyposis, MUTYH-related attenuated familial adenomatous polyposis, Turcot syndrome with polyposis, Hereditary mixed polyposis syndrome, Generalized juvenile polyposis/juvenile polyposis coli Centre de Génétique Humaine - CHU Sart-Tilman
Adenomatous polyposis, familial (gene panel) APC, MUTYH, BMPR1A, EPCAM, GREM1, MLH1, MSH2, MSH3, MSH6, NTHL1, PMS2, POLD1, POLE, PTEN, STK11, CDH1, SMAD4, TP53 Familial adenomatous polyposis, MUTYH-related attenuated familial adenomatous polyposis, Hereditary nonpolyposis colorectal cancer, Lynch syndrome Centre de Génétique Médicale UCL
Hereditary nonpolyposis colorectal cancer (gene panel) MLH1, MSH2, MSH6, PMS2, EPCAM, APC, BMPR1A, CDH1, GREM1, MSH3, MUTYH, NTHL1, POLD1, POLE, PTEN, STK11, SMAD4, TP53 Hereditary nonpolyposis colorectal cancer, Lynch syndrome, Constitutional mismatch repair deficiency syndrome Centre de Génétique Médicale UCL
Porencephaly / Hemorrhagic stroke / Cerebral small vessel disease / Idiopathic cerebral white matter lesions / HANAC / Isolated retinal arteriolar tortuosity COL4A1, COL4A2 Familial porencephaly, HANAC syndrome, Retinal arterial tortuosity Centrum Medische Genetica - UZ Gent
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