Dried Blood Spot Panel Disorders

For the Public Español For Healthcare Providers
3 Hydroxy 3 Methylglutaryl-CoA Lyase Deficiency (HMG) Aciduria 3-hidroxi-3-metilglutárica (HMG) Provider
3-Methylcrotonyl-CoA Carboxylase Deficiency (3MCC) Deficiencia de 3-metilcrotonil-CoA carboxilasa (3MCC) Provider
Argininosuccinic Acidemia (ASA) Aciduria argininosuccinica (ASA) Provider
Beta Ketothiolase Deficiency (BKT) Deficiencia de beta cetotiolasa (BKT) Provider
Biotinidase Deficiency (BIOT) Deficiencia de Biotinidasa (BIOT) Provider
Carnitine Uptake Deficiency (CUD) Defecto del metabolismo de la carnitina (CUD) Provider
Citrullinemia (CIT) Citrulinemia (CIT) Provider
Congenital Adrenal Hyperplasia (CAH) Hiperplasia adrenal congénita (CAH) Provider
Congenital Hypothyroidism (CH) Hipertiroidismo congénito primario (CH) Provider
Cystic Fibrosis (CF) Fibrosis quística (CF) Provider
Galactosemia (GALT) Galactosemia clásica (GALT) Provider
Glutaric Acidemia Type I (GA I) Acidemia glutárica tipo I (GA I) Provider
Homocystinuria (HCU) Homocistinuria (HCU) Provider
Isovaleric Acidemia (IVA) Acidemia isovalérica (IVA) Provider
Long Chain Hydroxy acyl-CoA Dehydrogenase Deficiency (LCHAD) Deficiencia de 3 hidroxiacil-CoA deshidrogenasa de cadena larga (LCHAD) Provider
Maple Syrup Urine Disease (MSUD) Enfermedad de la orina con olor a jarabe de arce (MSUD) Provider
Medium chain acyl-CoA dehydrogenase deficiency (MCAD) Deficiencia de Acil-CoA deshidrogenasa de cadena media (MCAD) Provider
Methylmalonyl Adenosyl- Cabalamine Synthesis Defects (CblA & B) Acidemia metilmalónica (trastornos de cobalamina, cblA & cblB) Provider
Methylmalonyl-CoA Mutase Deficiency (MUT) Acidemia metilmalónica (deficiencia de metilmalonil CoA mutasa, MUT) Provider
Mucopolysaccharidosis Type-I (MPS-1) Provider
Multiple CoA Carboxylase Deficiency (MCD) Deficiencia de holocarboxilasa sintetasa (MCD) Provider
Phenylketonuria (PKU) Fenilcetonuria clásica (PKU) Provider
Pompe Disease Provider
Proprionic Acidemia (PROP) Acidemia propiónica (PROP) Provider
Severe Combined Immunodeficiency (SCID)  Inmunodeficiencia combinada severa (SCID) Provider
Sickle Beta Thalassemia (Hb SBThal) Sickle beta talasemia (Hb SBThal) Provider
Sickle Hemoglobin C Disease (Hb SC) Enfermedad de S C (hemoglobinopatía SC)
Sickle Cell Anemia (Hb SS) Anemia de células falciformes (hemoglobinopatía SS) Provider
Trifunctional Protein Deficiency (TFP) Deficiencia de proteína trifuncional (TFP)
Tyrosinemia Type I (TYR I) Tirosinemia tipo I (TYR I) Provider
Very Long Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD) Deficiencia de Acil-CoA deshidrogenasa de cadena muy larga (VLCAD) Provider