Genetic tests

Full name Analytes Gene panels Disease Laboratory
Leiomyomatosis and renal cell cancer FH Hereditary leiomyomatosis and renal cell cancer Centre de Génétique Médicale UCL
Gorlin syndrome (gene panel) PTCH1, PTCH2, SUFU Gorlin syndrome (3 genes) Gorlin syndrome Centre de Génétique Médicale UCL
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
Familial cancer predisposition (gene panel) Hereditary cancer predisposition - UGent Centrum Medische Genetica - UZ Gent
Colon carcinoma (hereditary/familial) (gene panel) Colon carcinoma (hereditary/familial) (gene panel) (12 genes) - VUB APC-related attenuated familial adenomatous polyposis, Familial adenomatous polyposis, Familial colorectal cancer Type X, Generalized juvenile polyposis/juvenile polyposis coli, Hereditary mixed polyposis syndrome, Hereditary nonpolyposis colorectal cancer, Lynch syndrome, MUTYH-related attenuated familial adenomatous polyposis Centrum Medische Genetica - UZ Brussel VUB
Intellectual Disability (gene panel) Intellectual Disability (104 genes) - IPG Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
BAP1-related tumor predisposition syndrome (TPDS) BAP1 Familial melanoma Centrum Menselijke Erfelijkheid - KUL
Lipodystrophy and/or hyperinsulinism (gene panel) Lipodystrophy and/or hyperinsulinism (30 genes) - IPG Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Inherited Kidney Diseases (Gene Panel) Panel Nephro-ULG-V1 Centre de Génétique Humaine - CHU Sart-Tilman
Epileptic encephalopathies (virtual gene panel) Centre de Génétique Médicale UCL
Rasopathies (virtual gene panel) Centre de Génétique Médicale UCL
RASopathy (gene panel) RASopathy - KUL Noonan syndrome Centrum Menselijke Erfelijkheid - KUL
Non Invasive Prenatal Testing (NIPT) of trisomies 13, 18 et 21 and sex chromosomes Chromosome 21, Chromosome 13, Chromosome 18 Down syndrome, Trisomy 13, Trisomy 18 Centrum Menselijke Erfelijkheid - KUL
Alagille syndrome (2 genes) JAG1, NOTCH2 Alagille syndrome (2 genes) - UCL Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a NOTCH2 point mutation, Alagille syndrome due to 20p12 microdeletion Centre de Génétique Médicale UCL
Capillary malformation - arteriovenous malformation (2 genes) RASA1, EPHB4 Capillary/arteriovenous malformation (2 genes) - UCL, Vascular malformations (germline) (38 genes) - UCL Capillary malformation-arteriovenous malformation, Vein of Galen aneurysmal malformation, Parkes Weber syndrome Centre de Génétique Médicale UCL
Cerebral cavernous malformation (gene panel) KRIT1, CCM2, PDCD10 Cerebral cavernous malformation (3 genes) - UCL, Vascular malformations (germline) (38 genes) - UCL Familial cerebral cavernous malformation Centre de Génétique Médicale UCL
Coagulopathies (2 genes) ITGA2B, ITGB3 Autosomal dominant macrothrombocytopenia, Glanzmann thrombasthenia, Fetal and neonatal alloimmune thrombocytopenia Centre de Génétique Médicale UCL
Crigler Najjar Syndrome UGT1A1 Crigler-Najjar syndrome type 1, Crigler-Najjar syndrome type 2 Centre de Génétique Médicale UCL
Hemochromatosis hereditary type 2 to type 5 (5 genes) HAMP, FTH1, SLC40A1, TFR2, HJV Hemochromatosis hereditary (types 2 to 5) (5 genes) - UCL HJV or HAMP-related hemochromatosis, TFR2-related hemochromatosis, Hemochromatosis type 4, Hemochromatosis type 5 Centre de Génétique Médicale UCL
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