Genetic tests

Full name Analytes Gene panels Disease Laboratory
Amyotrophic Lateral Sclerosis (ALS) (gene panel) Amyotrophic Lateral Sclerosis (ALS) - UGent Amyotrophic lateral sclerosis, Juvenile amyotrophic lateral sclerosis, Amyotrophic lateral sclerosis type 4 Centrum Medische Genetica - UZ Gent
Amyotrophic lateral sclerosis (GGGGCC repeat expansion in the C9ORF72 gene) C9ORF72 Amyotrophic lateral sclerosis, Frontotemporal dementia with motor neuron disease, Behavioral variant of frontotemporal dementia, Huntington disease-like syndrome due to C9ORF72 expansions Centrum Menselijke Erfelijkheid - KUL
Frontotemporal lobar degeneration/ Amyotrophy Lateral Sclerosis (gene panel) Frontotemporal lobar degeneration / Amyotrophy Lateral Sclerosis (4 genes) - KUL Frontotemporal dementia with motor neuron disease, Amyotrophic lateral sclerosis Centrum Menselijke Erfelijkheid - KUL
Primary lymphedema / fetal hydrops (gene panel) Lymphedema / fetal hydrops (27 genes) - UCL, Vascular malformations (germline) (38 genes) - UCL Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome, Cardiofaciocutaneous syndrome, Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome, Noonan syndrome, Oculodentodigital dysplasia, Microcephaly-lymphedema-chorioretinopathy syndrome, Milroy disease, Lymphedema-distichiasis syndrome, Lymphedema-posterior choanal atresia syndrome, Hennekam syndrome, Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, Lymphangioleiomyomatosis Centre de Génétique Médicale UCL
Cardiofaciocutaneous syndrome (5 genes) HRAS, KRAS, BRAF, MAP2K2, MAP2K1 Cardiofaciocutaneous syndrome Centre de Génétique Humaine - CHU Sart-Tilman
Coagulopathies (2 genes) ITGA2B, ITGB3 Autosomal dominant macrothrombocytopenia, Glanzmann thrombasthenia, Fetal and neonatal alloimmune thrombocytopenia Centre de Génétique Médicale UCL
Kidney cancer (Renal cell carcinoma and transitional cell carcinoma (TCC) renal pelvis) (gene panel) Kidney cancer (Transitional Cell Carcinoma (TCC)) (14 genes) - KUL Renal cell carcinoma Centrum Menselijke Erfelijkheid - KUL
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