Genetic tests

Full name Analytes Gene panels Disease Laboratory
Stickler syndrome (gene panel) Stickler syndrome - UGent Stickler syndrome type 1, Stickler syndrome type 2, Autosomal dominant otospondylomegaepiphyseal dysplasia Centrum Medische Genetica - UZ Gent
Incontinentia pigmenti (IKBKG gene) IKBKG Incontinentia pigmenti Centrum Medische Genetica - UZ Brussel VUB
Alport autosomal recessive and X-linked and hematuria (3 genes) COL4A3, COL4A4, COL4A5 Alport (X-linked and recessive) (3 genes) - IPG Autosomal recessive Alport syndrome, X-linked Alport syndrome Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Atypical Hemolytic Uremic Syndrome (aHUS) (gene panel) Atypical Hemolytic Uremic Syndrome (aHUS) and Complement disorders (17 genes) - IPG Hemolytic uremic syndrome with DGKE deficiency, Atypical hemolytic uremic syndrome with anti-factor H antibodies, Atypical hemolytic uremic syndrome with complement gene abnormality, Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, Atypical hemolytic-uremic syndrome with B factor anomaly, Atypical hemolytic-uremic syndrome with H factor anomaly, Atypical hemolytic-uremic syndrome with C3 anomaly, Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, Atypical hemolytic-uremic syndrome with I factor anomaly Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Autism (gene panel) Autism (57 genes) - IPG Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Renal or urinary tract malformation (CAKUT) (gene panel) Cakut (congenital anomalies of the kidney and urinary tract-1) (69 genes) - IPG Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Epilepsy, seizures (gene panel) Epilepsy, seizures (196 genes) - IPG Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Hypertrophic cardiomyopathy (gene panel) Hypertrophic cardiomyopathy (75 genes) - IPG Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Kabuki syndrome (gene panel) KMT2D, KDM6A, KMT2A, HNRNPK, RAP1A, RAP1B, PACS1 Kabuki (7 genes) - IPG Kabuki syndrome Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
MODY : Maturity onset Diabete of the Young (gene panel) ABCC8, GCK, HNF1A, HNF4A, HNF1B, INS, KCNJ11 MODY - Maturity onset Diabete of the Young (21 genes) - IPG MODY Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Nephrotic syndrome, Focal Segmental Glomerulosclerosis (FSGS) , Alport syndrome and podocytopathy (gene panel) Nephrotic syndrome, FSGS, Alport syndrome (76 genes) - IPG Alport syndrome, Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis, Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis, Idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
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
Amyotrophic lateral sclerosis (gene panel) Amyotrophic lateral sclerosis (5 genes) - KUL Centrum Menselijke Erfelijkheid - KUL
Breast and Ovarian Cancer, HBOC, Familial (gene panel) Breast/ ovarian cancer (15 genes) - KUL Centrum Menselijke Erfelijkheid - KUL
Achondroplasia (FGFR3 hot spot mutation - p.Gly380) FGFR3 Achondroplasia Centrum Medische Genetica - UZ Brussel VUB
Androgen insensitivity (AR gene) AR Partial androgen insensitivity syndrome, Complete androgen insensitivity syndrome Centrum Medische Genetica - UZ Brussel VUB
Antithrombine III deficiency (thrombophilia) (SERPINC1 gene) SERPINC1 Hereditary thrombophilia due to congenital antithrombin deficiency Centrum Medische Genetica - UZ Brussel VUB
Beta-globin hemoglobinopathies, Hemoglobinopathy C (HbC) (HBB hot spot mutation - p.Glu6Lys) HBB Hemoglobin C disease Centrum Medische Genetica - UZ Brussel VUB
Beta-globin hemoglobinopathies, Sickle cell anemia (HbS) (HBB hot spot mutation - p.Glu6Val) HBB Sickle cell anemia Centrum Medische Genetica - UZ Brussel VUB
Breast cancer, hereditary (gene panel) Extended Breast Cancer Panel (26 gene) - VUB Centrum Medische Genetica - UZ Brussel VUB
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