Genetic tests

Full name Analytes Gene panels Disease Laboratory
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
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 (ALS) / Frontotemporal demention (FTD) - GGGGCC repeat expansion in C9ORF72 C9ORF72 Amyotrophic lateral sclerosis type 4, Frontotemporal dementia with motor neuron disease Centrum Medische Genetica - UZ Gent
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
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