Genetic tests

Full name Analytes Gene panels Disease Laboratory
Myoclonic epilepsy associated with ragged-red fibers (MERFF) (hot spot mutation - m.8344A>G) MT-TK MERRF Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Myoclonic epilepsy associated with ragged-red fibers (MERFF) (hot spot mutation - m.8344A>G) (1st tier) MT-TK MERRF Centrum Medische Genetica - UZ Brussel VUB
Myoclonic epilepsy associated with ragged-red fibers (MERFF) (full sequencing) (2nd tier) MT-TK MERRF Centrum Medische Genetica - UZ Brussel VUB
Hyperekplexia (gene panel-6 genes) Hyperekplexia (6 genes) - IPG Hereditary hyperekplexia Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Hyperekplexia (3 genes) SLC6A5, GLRA1, GLRB Hyperekplexia (3 genes) - ULG Hereditary hyperekplexia Centre de Génétique Humaine - CHU Sart-Tilman
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
Hypercholesterolemia, Familial (9 genes) LDLR, APOB, APOE, PCSK9, ABCG5, ABCG8, LDLRAP1, LIPA, STAP1 Familial Hypercholesterolemia panel (9 genes) - ULG Homozygous familial hypercholesterolemia, Heterozygous familial hypercholesterolemia (NON RARE IN EUROPE), Sitosterolemia, Cholesteryl ester storage disease Centre de Génétique Humaine - CHU Sart-Tilman
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