Genetic tests

Full name Analytes Gene panels Disease Laboratory
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 (GGGGCC repeat expansion in the C9ORF72 gene) C9ORF72 Amyotrophic lateral sclerosis, Frontotemporal dementia with motor neuron disease, Behavioral variant of frontotemporal dementia, Huntington disease-like syndrome due to C9ORF72 expansions Centrum Menselijke Erfelijkheid - KUL
Frontotemporal lobar degeneration/ Amyotrophy Lateral Sclerosis (gene panel) Frontotemporal lobar degeneration / Amyotrophy Lateral Sclerosis (4 genes) - KUL Frontotemporal dementia with motor neuron disease, Amyotrophic lateral sclerosis Centrum Menselijke Erfelijkheid - KUL
Craniosynostosis syndromes (Apert, Crouzon) FGFR2 Crouzon syndrome, Apert syndrome Centrum Medische Genetica - UZ Antwerpen
Craniosynostosis / Apert syndrome (hot spot mutations - exon 7) FGFR2 Apert syndrome Centre de Génétique Humaine - CHU Sart-Tilman
Gilbert disease - UGT1A1*28,*36,*37 {A(TA)nTAA} + *6 genotyping - Pharmacogenetics UGT1A1 Transient familial neonatal hyperbilirubinemia, Irinotecan toxicity, Raltegravir toxicity Centre de Génétique Médicale UCL
Gilbert syndrome / Irinotecan sensitivity (homozygous A(TA)7TAA allele) UGT1A1 Gilbert syndrome (NON RARE IN EUROPE), Irinotecan toxicity, Transient familial neonatal hyperbilirubinemia Centrum Menselijke Erfelijkheid - KUL
Perrault syndrome (gene panel) TWNK, CLPP, HARS2, HSD17B4, LARS2 Perrault syndrome (5 genes) - UZA Perrault syndrome Centrum Medische Genetica - UZ Antwerpen
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