Genetic tests

Full name Analytes Gene panels Disease Laboratory
test test1, test 2 Sciensano
Test Biochemical Genetics (Diagnosis of aminoacidopathy, organic aciduria and beta-oxydation defects (amino acids and acylcarnitines by MSMS)) SLC25A20 Carnitine-acylcarnitine translocase deficiency Sciensano
Zygosity (medical) Centrum Medische Genetica - UZ Gent
Enzymatic dosage Chitotriosidase Centrum Medische Genetica - UZ Brussel VUB
Enzymatic dosage Fabry disease Fabry disease Centrum Medische Genetica - UZ Brussel VUB
Enzymatic dosage Gaucher disease Gaucher disease type 1, Gaucher disease type 2, Gaucher disease type 3, Fetal Gaucher disease Centrum Medische Genetica - UZ Brussel VUB
Enzymatic dosage MPS1/Hurler syndrome Hurler-Scheie syndrome, Hurler syndrome Centrum Medische Genetica - UZ Brussel VUB
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
Zygosity (medical) Centre de Génétique Humaine - CHU Sart-Tilman
Corneal dystrophy (gene panel) Corneal dystrophy - UGent Centrum Medische Genetica - UZ Gent
Intellectual disability (virtual gene panel) Intellectual disability (gene panel) Centre de Génétique Médicale UCL
cleft lip with/whitout cleft palate (virtual gene panel) Cleft lip and palate / dysmorphic facial features / craniofacial anomalies (255 genes)) - UCL Cleft lip/palate Centre de Génétique Médicale UCL
Hereditary Spastic Paraplegia (gene panel) Hereditary Spastic Paraplegia & ataxia (genepanel) - UZA Centrum Medische Genetica - UZ Antwerpen
Myopathy (gene panel) Myopathy (genepanel) - UZA Centrum Medische Genetica - UZ Antwerpen
Peripheral neuropathy (gene panel) Neuropathy (genepanel) - UZA Centrum Medische Genetica - UZ Antwerpen
Primary ciliary dyskinesia (PCD) Heterotaxyies (gene panel) Heterotaxie PCD - UGent Centrum Medische Genetica - UZ Gent
Skeletal dysplasia (gene panel) Skeletal dysplasia - UGent Centrum Medische Genetica - UZ Gent
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
Pediatric oncopredisposition (gene panel) Pediatric oncopredisposition - UGent Centrum Medische Genetica - UZ Gent
Endocrine Disorders - Hypothyroidism (gene panel - 42 genes) Endocrine Disorders - Hypothyroidism (42 genes) - ULB Centre de Génétique Humaine - Erasme ULB
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