Baby Detect : Genomic Newborn Screening

ABSTRACT: Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions. With a simple blood test, rare genetic conditions can be easily detected, and the early start of transformative treatment will help avoid severe disabilities and increase the quality of life. Baby Detect Project is an innovative NBS program using a panel of target sequencing that aims to identify 126 treatable severe early onset genetic diseases at birth caused by 361 genes. The list of diseases has been established in close collaboration with the Paediatricians of the University Hospital in Liege. The investigators use dedicated dried blood spots collected between the first day and 28 days of life of babies, after a consent sign by parents.

DISEASE(S): Argininemia,Anemia, Diamond-blackfan,Mucopolysaccharidoses,Neuronal Ceroid-lipofuscinoses,Pseudohypoaldosteronism, Type Ii,Mucopolysaccharidosis I,Cardiomyopathy, Hypertrophic,Wolman Disease,Diabetes Mellitus, Type 2,Glycogen Storage Disease Type Ii,Hepatolenticular Degeneration,Diabetes Insipidus, Nephrogenic,Neutropenia,Deficit In Anterior Pituitary Function And Variable Immunodeficiency,Congenital Adrenal Hyperplasia,Alport Syndrome,Familial Hemophagocytic Lymphocytosis,Nephritis, Hereditary,Congenital Myasthenic Syndrome,Vitamin E Deficiency,Alpha-thalassemia,Hypophosphatasia, Infantile,Cerebral Folate Transport Deficiency,Mucopolysaccharidosis Vi,Wiskott-aldrich Syndrome,Severe Congenital Neutropenia,Long-chain 3-hydroxyacyl-coa Dehydrogenase Deficiency,Fanconi Anemia,Hereditary Nephrogenic Diabetes Insipidus,Creatine Deficiency Syndrome,Nephrotic Syndrome,Fructose-1,6-diphosphatase Deficiency,Anemia, Megaloblastic,Very Long Chain Hydroxy Acyl Dehydrogenase Deficiency,Shwachman-diamond Syndrome,Jervell-lange Nielsen Syndrome,N Acetyl Glutamate Synthetase Deficiency,Transcobalamin Deficiency,Pyridoxine-5'-phosphate Oxidase Deficiency,Lymphohistiocytosis, Hemophagocytic,Late-infantile Neuronal Ceroid Lipofuscinosis,Malonic Acidemia,Congenital Hyperinsulinism,Inflammatory Bowel Diseases,Hyperoxaluria, Primary,X Linked Hypophosphatemia,Lambert-eaton Myasthenic Syndrome,Severe Combined Immunodeficiency,Pseudohypoaldosteronism Type 1,Acidosis,Polyneuropathies,Hyperplasia,Charcot-marie-tooth Disease,Glucose Galactose Malabsorption,Cardiomyopathies,Gaucher Disease,Familial Chylomicronemia,Carnitine Acylcarnitine Translocase Deficiency,Anemia,Lysosomal Acid Lipase Deficiency,Pompe Disease,Smith-lemli-opitz Syndrome,Familial Hypertrophic Cardiomyopathy Type 4,Charcot-marie-tooth Disease, Type 6c,Mucopolysaccharidosis Ii,Tyrosinemias,Hypophosphatasia,Mucopolysaccharidosis Iv A,Glycine Encephalopathy,Gaucher Disease, Type 1,Cobalamin Deficiency,Cholestasis, Intrahepatic,3-hydroxy-3-methylglutaryl-coa Synthase 2 Deficiency,Segawa Syndrome, Autosomal Recessive,Mucopolysaccharidosis Iv,Maple Syrup Urine Disease,Maturity Onset Diabetes Of The Young,Leukodystrophy, Metachromatic,Progressive Familial Intrahepatic Cholestasis,Tachycardia, Ventricular,Familial Hyperinsulinemic Hypoglycemia 1,Tooth Diseases,Biotinidase Deficiency,Wilson Disease,Phosphoserine Phosphatase Deficiency,Hereditary Retinoblastoma,Phosphoserine Aminotransferase Deficiency,Tyrosinemia, Type I,Thalassemia,Riboflavin Deficiency,Myasthenic Syndromes, Congenital,Hyperglycinemia, Nonketotic,Granulomatous Disease, Chronic,Propionic Acidemia,Severe Combined Immune Deficiency,Citrullinemia 1,Carnitine Palmitoyltransferase Deficiency 1,Diabetes Insipidus,Andersen Syndrome,Carbamoyl Phosphate Synthase 1 Deficiency,Carnitine Palmitoyltransferase Deficiency 2,Primary Hyperoxaluria,Thiamine-responsive Megaloblastic Anemia,Phosphoglycerate Dehydrogenase Deficiency,Nesidioblastosis,Timothy Syndrome,Pyridoxine-dependent Epilepsy,Andersen Tawil Syndrome,Immunologic Deficiency Syndromes,Riboflavin Transporter Deficiency,Pseudohypoaldosteronism,Menkes Disease,Holocarboxylase Synthetase Deficiency,Citrullinemia,Fanconi Syndrome,Isovaleric Acidemia,Cardiomyopathy, Hypertrophic, Familial,Hyperammonemia,Glut1 Deficiency Syndrome,Hemophilia B,Hemophilia A,Glutaric Acidemia I,Carbamoyl-phosphate Synthase I Deficiency Disease,Adrenoleukodystrophy,Multiple Carboxylase Deficiency,Metachromatic Leukodystrophy,Catecholaminergic Polymorphic Ventricular Tachycardia,Lymphocytosis,Familial Hypophosphatemic Rickets,Anemia, Sickle Cell,Ornithine Transcarbamylase Deficiency,Pituitary Diseases,Dopamine Beta Hydroxylase Deficiency,Hyperlipoproteinemia Type I,Homocystinuria,Menkes Kinky Hair Syndrome,Aciduria, Argininosuccinic,Thiamine Metabolism Dysfunction Syndrome 4 (bilateral Striatal Degeneration And Progressive Polyneuropathy Type),Sickle Cell Disease,Adrenal Hyperplasia, Congenital,Brain Diseases,Argininosuccinic Aciduria,Citrullinemia Type Ii,Cystic Fibrosis,Hypoglycemia,Diabetes Mellitus,Phenylalanine Hydroxylase Deficiency,Thiamine Metabolism Dysfunction Syndrome 2,Glucosephosphate Dehydrogenase Deficiency,Nerve Compression Syndromes,Acyl-coa Dehydrogenase Family, Member 9, Deficiency Of,Fructosemia,Chronic Granulomatous Disease,Mucopolysaccharidosis Vii,Isolated Methylmalonic Acidemia,Nephrosis,Succinyl-coa:3-ketoacid Coa-transferase Deficiency,Diamond Blackfan Anemia,Beta Ketothiolase Deficiency,Cystinosis,Hereditary Hyperekplexia,Inflammatory Bowel Disease 25, Autosomal Recessive,Hypothyroidism,Congenital Hypothyroidism,Disaccharide Intolerance I,Hyperornithinemia-hyperammonemia-homocitrullinuria,Glucose 6 Phosphate Dehydrogenase Deficiency,Deficiency Of Got2,Retinoblastoma,Glycogen Storage Disease,Pituitary Hormone Deficiency, Combined,Adrenogenital Syndrome,Fanconi Bickel Syndrome,Systemic Primary Carnitine Deficiency,Branched-chain Keto Acid Dehydrogenase Kinase Deficiency,Ornithine Carbamoyltransferase Deficiency Disease,Osteochondrodysplasias,Ataxia With Vitamin E Deficiency,Hypophosphatemia,Alpha 1-antitrypsin Deficiency,Stiff-person Syndrome,Phosphoglucomutase 1 Deficiency,Hyperekplexia,3-hydroxy 3-methyl Glutaric Aciduria,Thiamine Metabolism Dysfunction Syndrome 5 (episodic Encephalopathy Type),Galactosemias,Vitamin B 12 Deficiency,Chediak-higashi Syndrome,Crigler-najjar Syndrome,Griscelli Syndrome,Aromatic L-amino Acid Decarboxylase Deficiency,Tachycardia,Hereditary Sensory And Motor Neuropathy,S-adenosylhomocysteine Hydrolase Deficiency,Brain Dopamine-serotonin Vesicular Transport Disease,Phenylketonurias,Congenital Nephrotic Syndrome, Finnish Type,Medium Chain Acyl Coa Dehydrogenase Deficiency,Cholestasis,Sepiapterin Reductase Deficiency

PROVIDER: 5218 | ecrin-mdr-crc |

REPOSITORIES: ECRIN MDR