Genetic tests

Full name Analytes Gene panels Disease Laboratory
Optic atrophy (gene panel) Optic atrophy - UGent Centrum Medische Genetica - UZ Gent
Maturity onset Diabete of the Young (MODY), type 5 / Renal cysts and diabetes syndrome (gene panel) Diabetes neonatal / Maturity onset Diabete of the Young (MODY) / Hyperinsulinism (genepanel) - UZA Centrum Medische Genetica - UZ Antwerpen
Thalassemia Alpha (2 genes) HBA1, HBA2 Thalassemia Alpha (2 genes) - ULB Centre de Génétique Humaine - Erasme ULB
Retinitis pigmentosa, X-Linked Retinitis pigmentosa, X-linked - UGent Centrum Medische Genetica - UZ Gent
Cowden disease (3 genes) Cowden (3 genes) - KUL Centrum Menselijke Erfelijkheid - KUL
Hereditary spastic paraplegia (gene panel - 249 genes) Hereditary spastic paraplegia (188 genes) - ULB Centre de Génétique Humaine - Erasme ULB
Hyperinsulinism (gene panel) Diabetes neonatal / Maturity onset Diabete of the Young (MODY) / Hyperinsulinism (genepanel) - UZA Centrum Medische Genetica - UZ Antwerpen
Pulmonary Arterial Hypertension / Rendu Osler Weber disease (gene panel - 24 genes) Pulmonary Arterial Hypertension (24 genes) - ULB Centre de Génétique Humaine - Erasme ULB
Amyotrophic lateral sclerosis (gene panel) Amyotrophic lateral sclerosis (5 genes) - KUL Centrum Menselijke Erfelijkheid - KUL
Early-onset severe obesity Early-onset severe obesity (44 genes) - ULG Centre de Génétique Humaine - CHU Sart-Tilman
Hereditary cancer (Breast, ovary, colon) (26 genes) BRCA1, BRCA2, BARD1, BRIP1, CDH1, MLH1, MSH2, MSH6, MEN1, PTEN, RAD50, RAD51D, STK11, TP53, CHEK2, MUTYH, PALB2, RAD51C, ATM, EPCAM, BLM, NBN, PMS2, XRCC2, ABRAXAS1, MRE11 Cancer (Breast, ovary, colon,…) (26 genes) - ULG Centre de Génétique Humaine - CHU Sart-Tilman
Silver-Russell syndrome (11p15 methylation) Centrum Menselijke Erfelijkheid - KUL
Alzheimer disease (3 genes) Alzheimer erly-onset disease (3 genes) -KUL Centrum Menselijke Erfelijkheid - KUL
Renal cell carcinoma (kidney cancer) (gene panel) Renal cell carcinoma - UGent Centrum Medische Genetica - UZ Gent
Aarskog-Scott syndrome FGD1 Aarskog-Scott syndrome Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
alpha-globin hemoglobinopathies HBA1 Alpha-thalassemia Centre de Génétique Médicale UCL
Angelman / Prader Willi Syndrome 15q11-q13, UBE3A Angelman syndrome due to imprinting defect in 15q11-q13, Angelman syndrome due to maternal 15q11q13 deletion, Angelman syndrome due to paternal uniparental disomy of chromosome 15, Prader-Willi syndrome due to imprinting mutation, Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1, Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 Centre de Génétique Médicale UCL
Angelman / Prader Willi Syndrome 15q11-q13, UBE3A Angelman syndrome due to imprinting defect in 15q11-q13, Angelman syndrome due to maternal 15q11q13 deletion, Prader-Willi syndrome due to imprinting mutation, Angelman syndrome due to paternal uniparental disomy of chromosome 15, Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2, Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15, Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 Centre de Génétique Humaine - Erasme ULB
Angelman / Prader Willi Syndrome 15q11-q13, UBE3A Angelman syndrome due to imprinting defect in 15q11-q13, Angelman syndrome due to maternal 15q11q13 deletion, Angelman syndrome due to paternal uniparental disomy of chromosome 15, Prader-Willi syndrome due to imprinting mutation, Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2, Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 Centrum Medische Genetica - UZ Antwerpen