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Medical genetics / Newborn screening / Methylmalonic acidemia / Glutaric aciduria type 1 / Galactosemia / Methylmalonyl-CoA mutase deficiency / Phenylketonuria / Isovaleric acidemia / Medium-chain acyl-coenzyme A dehydrogenase deficiency / Health / Rare diseases / Genetic genealogy


METABOLIC/SICKLE CELL SCREENING GUIDELINES As mandated by KRS[removed], Newborn Screening tests include:
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Document Date: 2014-12-04 13:18:40

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Company

acyl-CoA / Positive Laboratory / /

Facility

University of Louisville / University of Kentucky / /

IndustryTerm

treatment services / food products / treatment of inherited metabolic diseases / /

MedicalCondition

hemoglobinopathies / ANALYZED WITH MS/MS TECHNOLOGY Amino Acid Disorders / inherited metabolic diseases / specific disorder / Trifunctional protein deficiency / Organic Acid Disorders / Hemoglobinopathies HbSS / Argininemia / Congenital Hypothyroidism / Fatty Acid Disorders / Citrullinemia / Methylbutyryl-CoA dehydrogenase deficiency / 3hydroxyacyl-CoA dehydrogenase deficiency / galactosemia / Methylmalonyl-CoA mutase deficiency / inherited disorders / Tyrosinemia / dehydrogenase deficiency / disorder / PKU / CoA-Carboxylase Deficiency / inborn errors of metabolism / deficiency / Phenylketonuria / Multiple carboxylase deficiency / biotinidase deficiency / MS / Isobutyryl-CoA dehydrogenase deficiency / acylcarnitine translocase deficiency / Maple Syrup Urine Disease / Nonketotic Hyperglycinemia / Homocystinuria / /

MedicalTreatment

blood transfusion / /

Organization

State Lab / Division of Adult and Child Health Improvement / State Newborn Screening Lab / Normal But Transfused Results Repeat Laboratory / University of Kentucky / Division of Maternal & Child Health / University of Louisville / /

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Position

university specialist / POSITIVE DIAGNOSIS The State Newborn Screening Coordinator / ALL NEWBORN SCREENING TESTS The Administrative Officer / Counsel / physician / midwife / attending physician / school nutritionist / /

Product

penicillin / /

ProvinceOrState

Kentucky / /

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