Genetic tests

Full name Analytes Gene panels Disease Laboratory
Disorders of sex development - Primary Ovarian insufficiency - Hypogonadotropic Hypogonadism (gene panel) Disorders of Sex Development - Primary Ovarian Insufficiency - Hypogonadotropic Hypogonadism - UGent Centrum Medische Genetica - UZ Gent
Ectopia lentis LTBP2, ADAMTSL4, FBN1 Isolated ectopia lentis Centrum Medische Genetica - UZ Gent
Ectrodactyly / cleft lip/palate syndrome type 3 / Ectodermal dysplasia Ectrodactyly / cleft lip/palate / Ectodermal dysplasia - UGent Centrum Medische Genetica - UZ Gent
Ehlers-Danlos Syndrome, vascular type (type IV) COL3A1 Vascular Ehlers-Danlos syndrome Centrum Medische Genetica - UZ Gent
Enhanced S-Cone Syndrome NR2E3 Goldmann-Favre syndrome Centrum Medische Genetica - UZ Gent
Fabry disease GLA Fabry disease Centrum Medische Genetica - UZ Gent
Familial Exudative Vitreoretinopathy, autosomal dominant FZD4, TSPAN12, LRP5, NDP Exudative Vitreoretinopathy - UGent Familial exudative vitreoretinopathy Centrum Medische Genetica - UZ Gent
Familial melanoma / Familial Atypical Multiple Mole Melanoma Syndrome, FAMMM (gene panel) Familial melanoma - UGent Familial melanoma Centrum Medische Genetica - UZ Gent
Familial Thoracic Aortic Aneurysm (gene panel) Familial Thoracic Aortic Aneurysm (21 genes) - UGent Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome Centrum Medische Genetica - UZ Gent
Fanconi anemia (gene panel) Fanconi anemia - UGent Fanconi anemia Centrum Medische Genetica - UZ Gent
Feingold syndrome MYCN Feingold syndrome type 1 Centrum Medische Genetica - UZ Gent
Fragile X syndrome/POF/FXTAS - CGG repeat expansion FMR1 Fragile X syndrome, Fragile X-associated tremor/ataxia syndrome, Symptomatic form of fragile X syndrome in female carriers Centrum Medische Genetica - UZ Gent
FRMD7-related infantile nystagmus / Nystagmus, infantile periodic alternating, X-linked FRMD7 Nystagmus, infantile periodic alternating, X-linked Centrum Medische Genetica - UZ Gent
Diffuse gastric cancer, hereditary CDH1, CTNNA1 Hereditary diffuse gastric cancer Centrum Medische Genetica - UZ Gent
Generalized Arterial Calcification of Infancy ENPP1, ABCC6 Generalized arterial calcification of infancy Centrum Medische Genetica - UZ Gent
Heart / Cardio disorders / Cardiopathy (gene panel) cardiopathy panel - UGent Centrum Medische Genetica - UZ Gent
Hemochromatosis hereditary type 1 (hot spot mutations - p.Cys282Tyr; p.His63Asp in HFE gene) HFE Symptomatic form of hemochromatosis type 1, Hemochromatosis type 1 (NON RARE IN EUROPE) Centrum Medische Genetica - UZ Gent
Huntington disease - CAG repeat expansion HTT Huntington disease Centrum Medische Genetica - UZ Gent
Hypermethylation promoter MLH1 MLH1 Lynch syndrome Centrum Medische Genetica - UZ Gent
Hypochondroplasia (hot spot mutations - p.Asn540; p.Ile538; p.Lys650 FGFR3) FGFR3 Hypochondroplasia Centrum Medische Genetica - UZ Gent
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