Genetic tests

Full name Analytes Gene panels Disease Laboratory
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)
Leber hereditary optic neuropathy (LHON) – (DNAJC30 gene) DNAJC30 Leber hereditary optic neuropathy Centrum Medische Genetica - UZ Brussel VUB
Hemophilia A F8 Hemophilia A, Severe hemophilia A, Moderate hemophilia A, Mild hemophilia A, Bleeding disorder in hemophilia A carriers Centre de Génétique Médicale UCL
Hemophilia B F9 Hemophilia B, Severe hemophilia B, Moderate hemophilia B, Mild hemophilia B, Bleeding disorder in hemophilia B carriers Centre de Génétique Médicale UCL
Hereditary angioneurotic edema (2 genes) F12, SERPING1 C1 inhibitor deficiency, Hereditary angioedema type 1, Hereditary angioedema type 2 Centre de Génétique Médicale UCL
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)
Epilepsy, seizures (gene panel) Epilepsy, seizures (196 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)
Amyotrophic lateral sclerosis (gene panel) Amyotrophic lateral sclerosis (5 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
Combined pituitary hormone deficiency 1 (CPHD - POU1F1 gene) POU1F1 Combined pituitary hormone deficiencies, genetic forms Centrum Medische Genetica - UZ Brussel VUB
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