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Test Code B0200
Test Summary

The StepOne® Comprehensive Biochemical Profile is a newborn screening test that can detect more than 50 disorders in newborns from just a few drops of blood.

Turn-Around-Time (TAT)* 3  - 5 days
Acceptable Sample Types
Dried Blood Spots
Acceptable Billing Types
Self (patient) Payment
Institutional Billing
Commercial Insurance
*TAT starts after the sample and all required sample information is received at PerkinElmer Genomics, or after the benefits investigation is complete if requested for commercial insurance billing.

A comprehensive biochemical profile is performed to identify the presence of more than 50 inherited disorders, the full core and secondary panel recommended by the American College of Medical Genetics.  This includes conditions that may not be included in state-mandated programs.

This test may be appropriate for individuals with a clinical suspicion of an inherited metabolic disorder.

StepOne Comprehensive Biochemical Profile includes fatty acid oxidation disorders, organic acid disorders, amino acid disorders as well as other conditions recommended by the Amercian College of Medical Genetics. For the full list of conditions please refer to the Condition List sheet below.

Please refer to the Condition List sheet below.

The StepOne Comprehensive Biochemical Profile is performed by tandem mass spectrometry as well as other technologies.

Dried Blood Spots
Collection Container(s): Dried blood spot card
Collection: Follow kit instructions. Briefly, allow blood to saturate card until indicated areas are filled and blood has soaked through card. Air dry card at ambient temperature for at least 3 hours.
  • NBS: Please contact PKIG to request the StepOne® kit.
  • Gene Sequencing: Please contact PKIG to request the DBS collection kit.
Shipping: Follow kit instructions. Double bag and ship overnight at ambient temperature.