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Laboratory Test Directory

Newborn Screening

Components

Name Method Department Units
Newborn Screening Multiple methods
Send Out

Battery Members

Free carnitine,Propionlycarnitine, Butrylcarnitine, Isovalerylcarnitine, Glutarylcarnitine, 3-OH Isovalerylcarnitine, Octanoylcarnitine, Tetradecenoylcarnitine,Palmitoylcarnitine,3-OH Palmitoylcarnitine,Arginine, Citrulline, Leucine - Valine, Methionine, Phenylalanine, Succinylacetone ,Tyrosine, Thyroid Stimulating Hormone, 17 Hydroxyprogesterone, Galactose-1 P-Uridyl Transferase, Biotinidase, Hemoglobin,Immunoreactive Trypsinogen, TRECs

Specimen Requirements

Whole blood

Container Type Container Size Specimen Volume
Preferred

ODH Newborn Screening Kit

N/A
Stability

Room temperature - 10 day(s)

Specimen Preparation

  • Refer to Comment Section for additional collection instructions

Reasons for Rejection

  • Inadequate filling of circles on filter paper card
  • Layered, scratched, abraded, clotted blood.
  • Not dried prior to submitting sample
  • Supersaturated
  • Diluted, discolored, or contaminated
  • Exhibits serum ring
  • No blood on card
  • Received more than 10 days after sample draw
  • Sample placed into plastic bag after blood is applied to card

Comments

Newborn screen cards should be walked down from the floor or sent via courier in a paper envelope. Do not use a plastic bag as this interferes with the results once blood is applied to the card. Be sure the blood has dried completely before submitting to the Sendout lab.

Disorders screened for include:

Argininemia (ARG), Argininosuccinic Acidemia (ASA), Biotinidase Deficiency (BIOT), Carnitine Acylcarnitine Translocase Deficiency (CACT), Carnitine Palmitoyl Transferase Deficiency Type II (CPT-II), Carnitine Uptake Defect (CUD), Citrullinemia Type I (CIT) and Citrullinemia Type II (CIT II), Congenital Adrenal Hyperplasia (CAH), Congenital Hearing Loss, Primary Congenital Hypothyroidism, Critical Congenital Heart Defects (CCHD), Cystic Fibrosis (CF), Galactosemia (GALT), Glutaric Acidemia Type I (GA-1), Glutaric Acidemia Type II (GA-2), Homocystinuria (HCY), 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency (HMG), Hypermethioninemia (MET), Isobutyryl-CoA Dehydrogenase Deficiency (IBG), Isovaleric Acidemia (IVA), Krabbe Leukodystrophy, 3-Ketothiolase Deficiency (BKT), Long-Chain Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD), Maple Syrup Urine Disease (MSUD), Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCAD), 2-Methylbutyryl-CoA Dehydrogenase Deficiency (2MBG), 3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC), Methylmalonic Acidemia ?Cobalamin Disorders A and B (Cbl A,B), Methylmalonyl-CoA Mutase Deficiency (MUT), Methylmalonic Acidemia with Homocystinuria (Cbl C, D, F), Multiple CoA Carboxylase Deficiency (MCD), Phenylketonuria (PKU), Propionic Acidemia (PROP), Severe Combined Immunodeficiency (SCID), Short-Chain Acyl-CoA Dehydrogenase Deficiency (SCAD), Sickle Cell Disease (Hb SS) and other Hemoglobinopathies (e.g. SC Disease, Sickle Beta-Thalassemia), Trifunctional Protein Deficiency (TFP),Very Long-Chain Acyl-CoA Dehydrogenase Deficiency
(VLCAD) 

CPT Code

  • 84030
  • 82128
  • 82776
  • 84437
  • 83020