Genetic tests

Full name Analytes Gene panels Disease Laboratory
abacavir toxicity hlab 5701 ge HLA-B Abacavir toxicity Centrum Medische Genetica - UZ Gent
achondrogenesis kniest dysplas COL2A1 Achondrogenesis type 2, Hypochondrogenesis, Kniest dysplasia, Multiple epiphyseal dysplasia, Beighton type, Spondyloepiphyseal dysplasia congenita, Stickler syndrome type 1 Centrum Medische Genetica - UZ Gent
achondroplasia hot spot mutati FGFR3 Achondroplasia Centrum Medische Genetica - UZ Gent
achromatopsia CNGB3, CNGA3 Achromatopsia (2 genes) - UGent Achromatopsia Centrum Medische Genetica - UZ Gent
acrocapitofemoral dysplasia br IHH Acrocapitofemoral dysplasia, Brachydactyly type A1 Centrum Medische Genetica - UZ Gent
amyotrophic lateral sclerosis C9ORF72 Amyotrophic lateral sclerosis type 4, Frontotemporal dementia with motor neuron disease Centrum Medische Genetica - UZ Gent
amyotrophic lateral sclerosis Amyotrophic Lateral Sclerosis (ALS) - UGent Amyotrophic lateral sclerosis, Juvenile amyotrophic lateral sclerosis, Amyotrophic lateral sclerosis type 4 Centrum Medische Genetica - UZ Gent
angelman prader willi syndrome 15q11-q13, UBE3A Angelman syndrome due to imprinting defect in 15q11-q13, Angelman syndrome due to maternal 15q11q13 deletion, Angelman syndrome due to paternal uniparental disomy of chromosome 15, Prader-Willi syndrome due to imprinting mutation, Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1, Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 Centrum Medische Genetica - UZ Gent
aniridia PAX6 Aniridia-cerebellar ataxia-intellectual disability syndrome, Isolated aniridia Centrum Medische Genetica - UZ Gent
anterior segment dysgenesis Anterior segment dysgenesis - UGent Anterior segment developmental anomaly, Axenfeld-Rieger syndrome, Rieger anomaly Centrum Medische Genetica - UZ Gent
arrhytmogenic cardiopathy Arrhytmogenic cardiopathy - UGent Centrum Medische Genetica - UZ Gent
arterial tortuosity syndrome SLC2A10, EFEMP2 Arterial tortuosity syndrome Centrum Medische Genetica - UZ Gent
ataxia spasticity gene panel Ataxia Spasticity - UGent Centrum Medische Genetica - UZ Gent
ataxia telangiectasia ATM Ataxia-telangiectasia Centrum Medische Genetica - UZ Gent
azoo oligozoospermia microdele Yq11 Partial chromosome Y deletion Centrum Medische Genetica - UZ Gent
bap1tumor predisposition syndr BAP1 BAP1-related tumor predisposition syndrome Centrum Medische Genetica - UZ Gent
bethlem myopathy ullrich conge Bethlem myopathy / Ullrich / Myosclerosis Myopathy - UGent Centrum Medische Genetica - UZ Gent
bicuspid aortic valve Bicuspid aortic valve - UGent Centrum Medische Genetica - UZ Gent
birthoggdube syndrome FLCN Birt-Hogg-Dubé syndrome Centrum Medische Genetica - UZ Gent
blepharophimosis type FOXL2 Blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome, Blepharophimosis-epicanthus inversus-ptosis due to copy number variations Centrum Medische Genetica - UZ Gent