Genetic tests

Full name Analytes Gene panels Disease Laboratory
Ataxia (gene panel) Ataxia (141 genes) - KUL Spinocerebellar Ataxias Centrum Menselijke Erfelijkheid - KUL
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
WAGR Syndrome WT1 WAGR syndrome Centrum Menselijke Erfelijkheid - KUL
DICER1 Syndrome DICER1 Maligant granulosa cell tumor of the ovary Centrum Menselijke Erfelijkheid - KUL
Rhabdomyosarcoma DICER1, NF1, TP53 Centrum Menselijke Erfelijkheid - KUL
Neuroendocrine tumor (NET) (gene panel) Neuroendocrine tumor (NET) (9 genes) - KUL Centrum Menselijke Erfelijkheid - KUL
Agammaglobulinemia PIK3R1 Autosomal agammaglobulinemia Centrum Menselijke Erfelijkheid - KUL
Hearing loss, STRC gene STRC Rare autosomal recessive non-syndromic sensorineural deafness type DFNB Centrum Medische Genetica - UZ Antwerpen
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
Amyloidosis, cardiac (full screening of the 4 exons for TTR) TTR Hereditary ATTR amyloidosis Centrum Medische Genetica - UZ Antwerpen
Hyperekplexia (gene panel-6 genes) Hyperekplexia (6 genes) - IPG Hereditary hyperekplexia Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Intellectual Disability (gene panel) Intellectual Disability (104 genes) - IPG Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
TRANSTHYRETIN (TTR) Analysis TTR Hereditary ATTR amyloidosis Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Immunodeficiency 30 / Susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency IL12RB1 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency Centrum Menselijke Erfelijkheid - KUL
Endocrine Disorders - Hypothyroidism (gene panel - 42 genes) Endocrine Disorders - Hypothyroidism (42 genes) - ULB Centre de Génétique Humaine - Erasme ULB
Endocrine Disorders - Hyper(Hypo)parathyroidism (gene panel - 24 genes) Endocrine Disorders - Hyper(Hypo)parathyroidism (24 genes) - ULB Centre de Génétique Humaine - Erasme ULB
BAP1-related tumor predisposition syndrome (TPDS) BAP1 Familial melanoma Centrum Menselijke Erfelijkheid - KUL
Metastatic Breast or Pancreatic or Prostate Cancer BRCA1, BRCA2 Centrum Menselijke Erfelijkheid - KUL
« Inherited bone marrow failures syndromes » with or without organ dysfunction Hematologic Familiar Forms - ULG Centre de Génétique Humaine - CHU Sart-Tilman
Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome FOXP3 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome Centrum Menselijke Erfelijkheid - KUL