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Test Code LAB480 Newborn Metabolic Screen

Intended Use

Used for the screening of the following conditions in newborns:

  • Congenital Adrenal Hyperplasia
  • Congenital Hypothyroidism
  • Galactosemia
  • Biotinidase Deficiencies
  • Hemoglobinopathies
  • Hemoglobin Phenotype
  • Amino Acidopathies
  • Fatty Acid Oxidation Defects
  • Organic Acidemias
  • Amino Acidemias
  • Cystic Fibrosis 
  • Severe Combined Immune Deficiencies
  • Spinal Muscular Atrophy
  • Pompe Disease
  • Adrenoleukodystrophy (X-ALD)

Methodology

Tandem Mass Spectrophotometry

Performing Laboratory

University of Iowa, Hygienic

Collection Sites

RCH-SPH-CUH-LDH-STH

Specimen Requirements

Special card with dime-sized drops of blood from a heel-stick on each circle. Completely saturate each circle with blood. Allow card to dry completely for at least 3 hours away from sunlight. Forward promptly at ambient temperature only.

Day(s) Test Set Up

Monday through Friday

 

Test Classification and CPT Coding

82261 - biotinidase

82776 - galactose-1-phosphate uridyl transferase, screen

83020 - hemoglobin fractionation and quantitation, electrophoresis

83498 - congenital adrenal hyperplasia screen

83516 - cystic fibrosis screen

83789 - amino acid and acylcarnitine screen

84443 - thyroid-stimulating hormone (TSH)