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Test Code SQ PKUZ, EPIC LAB480 Newborn Screening Panel

Methodology

Screen for the following disorders:  arginosuccinic acidemia, biotinidase, citrullinemia (I & II), congenital adrenal hyperplasia, congenital hypothyroidism, cystic fibrosis, fatty acid oxidation (12), galactosemia, sickle-cell disease, s-beta thalassemia, s and c hemoglobin disease, hemoglobin variants, homocystinuria, hypermethioninemia, maple syrup disease, organic acidemia (15), phenylketonuria (PKU), hyperphenylalaninemia, and tyrosinemia (I, II & III).

Performing Laboratory

Wisconsin State Laboratory of Hygiene

Specimen Requirements

Specimen Type: Blood spots, dried
Container/Tube: Filter paper
Specimen Minimum Volume: 3 circles
Collection Instructions:

1. Circles must be completely filled on card.

2. Specimen should be collected prior to hospital discharge, or by day 6 for home births or extended hospitalizations.

3. If initial specimen is collected prior to 24 hours of age, repeat testing is recommend.

Specimen Transport Temperature

Ambient

Reference Values

An interpretative report will be provided.

Day(s) Test Set Up

Monday through Saturday

Test Classification and CPT Coding

82017-Acylcarnitines, quantitative, each specimen

82261-Biotinidase, each specimen

82775-Galactose-1-phosphate uridyl transferase; quantitative

83020-Hemoglobin fractionation and quantitation; electrophoresis

83498-Hydroxyprogesterone

83516-Immunoassay for analyte other than infectious agent antibody or infectious agent antigen, qualitative or semiquantitative; multiple step method

83788-Mass spectrometry and tandem mass analyte not elsewhere specified; qualitative, each specimen

84030-Phenylalanine (PKU), blood

84443-Thyroid stimulating hormone (TSH)

84510-Tyrosine