Genetic tests

Full name Analytes Gene panels Disease Laboratory
Test Biochemical Genetics (Diagnosis of aminoacidopathy, organic aciduria and beta-oxydation defects (amino acids and acylcarnitines by MSMS)) SLC25A20 Carnitine-acylcarnitine translocase deficiency Sciensano
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
Anterior segment dysgenesis Anterior segment dysgenesis - UGent Anterior segment developmental anomaly, Axenfeld-Rieger syndrome, Rieger anomaly Centrum Medische Genetica - UZ Gent
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
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