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Disorders Included in the Newborn Screening Panel Disorders

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Disorders Included in the Newborn Screening Panel Disorders Disorders Included in the Newborn Screening Panel Disorders Detected by Tandem Mass Spectrometry Acylcarnitine Profile Amino Acid Profile Fatty Acid Oxidation Disorders Amino Acid Disorders Carnitine/Acylcarnitine Translocase Deficiency Argininemia 1 Carnitine Palmitoyl Transferase Deficiency Type I Argininosuccinic Aciduria 1 3-Hydroxy Long Chain Acyl-CoA Dehydrogenase 5-Oxoprolinuria 1 Deficiency Carbamoylphosphate Synthetase Deficiency 1 2,4-Dienoyl-CoA Reductase Deficiency Citrullinemia Medium Chain Acyl-CoA Dehydrogenase Deficiency Homocystinuria Multiple Acyl-CoA Dehydrogenase Deficiency Hypermethioninemia Neonatal Carnitine Palmitoyl Transferase Deficiency Hyperammonemia, Hyperornithinemia, Homocitrullinuria Type II Syndrome1 1 Short Chain Acyl-CoA Dehydrogenase Deficiency Hyperornithinemia with Gyral Atrophy Short Chain Hydroxy Acyl-CoA Dehydrogenase Maple Syrup Urine Disease Deficiency Phenylketonuria Trifunctional Protein Deficiency Classical/Hyperphenylalaninemia Very Long Chain Acyl-CoA Dehydrogenase Deficiency Biopterin Cofactor Deficiencies Tyrosinemia Organic Acid Disorders Transient Neonatal Tyrosinemia 2 Tyrosinemia Type I 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency Tyrosinemia Type II Glutaric Acidemia Type I Tyrosinemia Type III Isobutyryl-CoA Dehydrogenase Deficiency Isovaleric Acidemia 2-Methylbutyryl-CoA Dehydrogenase Deficiency 3-Methylcrotonyl-CoA Carboxylase Deficiency Other Observations 3-Methylglutaconyl-CoA Hydratase Deficiency Methylmalonic Acidemias Hyperalimentation Methylmalonyl-CoA Mutase Deficiency Liver Disease Some Adenosylcobalamin Synthesis Defects Medium Chain Triglyceride Oil Administration Maternal Vitamin B12 Deficiency Presence of EDTA Anticoagulants in blood specimen Mitochondrial Acetoacetyl-CoA Thiolase Deficiency Treatment with Benzoate, Pyvalic Acid, or Valproic Acid Propionic Acidemia Carnitine Uptake Deficiency1 Multiple CoA Carboxylase Deficiency Malonic Aciduria Disorders Detected by Other Technologies Biotinidase Deficiency Congenital Hypothyroidism (not valid after 2 months of age) Complete Deficiency Sickle Cell & other Hemoglobinopathies Partial Deficiency Hemoglobin S, S/C, S/Beta-Thalassemia, C, & E Diseases Glucose-6-Phosphate Dehydrogenase Deficiency Galactosemia Congenital Adrenal Hyperplasia Galactokinase Deficiency Salt Wasting 21-Hydroxylase Deficiency Galactose-1-Phosphate Uridyltransferase Deficiency Simple Virilizing 21-Hydroxylase Deficiency Galactose-4-Epimerase Deficiency Cystic Fibrosis (not valid after 3 months of age)* SCID (Severe Combined Immunodeficiency)** The analyses conducted by PerkinElmer Genetics produce results that can be used by qualified physicians in the diagnosis of disorders described herein. Evidence of these conditions can be detected in the vast majority of affected individuals; however, due to genetic variability, age of patient at time of specimen collection, quality of specimen, health status of the patient, and other variables, such conditions may not be detected in all affected patients. 1 There is a lower probability of detection of this condition during the immediate newborn period. 2 Succinylacetone (SUAC) is the primary marker for Tyrosinemia Type 1. * For information on DNA Carrier Testing for children over 3 months of age, please call 866.463.6436. ** Not available in New York. .
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