Genetic tests

Full name Analytes Gene panels Disease Laboratory
Keratinopathic ichthyosis (epidermolytic ichtyosis, superficial epidermolytic ichthyosis, congenital reticular ichthyosiform erythroderma) (3 genes) keratinopathic ichthyosis (3 genes) - KUL Autosomal dominant epidermolytic ichthyosis, Superficial epidermolytic ichthyosis, Congenital reticular ichthyosiform erythroderma Centrum Menselijke Erfelijkheid - KUL
Enzymatic dosage Pompe disease Glycogen storage disease due to acid maltase deficiency, Glycogen storage disease due to acid maltase deficiency, infantile onset, Glycogen storage disease due to acid maltase deficiency, late-onset Centrum Medische Genetica - UZ Brussel VUB
Pompe disease, Glycogen storage disease II (GAA gene) GAA Glycogen storage disease due to acid maltase deficiency, infantile onset, Glycogen storage disease due to acid maltase deficiency, late-onset Centrum Medische Genetica - UZ Brussel VUB
Multiple endocrine neoplasia type 2A and 2B / Familial medullary thyroid carcinoma RET Multiple endocrine neoplasia type 2B, Multiple endocrine neoplasia type 2A, Familial medullary thyroid carcinoma Centrum Menselijke Erfelijkheid - KUL
Multiple Endocrine Neoplasia type 2A and 2B / Familial medullary thyroid carcinoma RET Multiple endocrine neoplasia type 2A, Multiple endocrine neoplasia type 2B, Familial medullary thyroid carcinoma Centre de Génétique Humaine - Erasme ULB
Multiple Endocrine Neoplasia type 2A and 2B / Familial medullary thyroid carcinoma RET Multiple endocrine neoplasia type 2A, Multiple endocrine neoplasia type 2B, Familial medullary thyroid carcinoma, Hirschsprung disease Centrum Medische Genetica - UZ Gent
Medullary thyroid carcinoma RET Medullary thyroid carcinoma (3 genes) - UCL Familial medullary thyroid carcinoma Centre de Génétique Médicale UCL
Charcot-Marie-Tooth (CMT1A, GJB1) GJB1, PMP22 X-linked Charcot-Marie-Tooth disease type 1, Charcot-Marie-Tooth disease type 1A Centre de Génétique Humaine - Erasme ULB
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