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Test Code B0200
Test Summary

The StepOne® Comprehensive Biochemical Profile is a newborn screening test that can detect more than 70 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
*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 70 inherited disorders. This test screens for Recommended Universal Newborn Screening Panel (RUSP) disorders, which includes the full core and secondary panel recommended by the American College of Medical Genetics and Genomics (ACMG) along with other conditions that may not be found 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, and other conditions. Please refer to the Condition List sheet below for the complete list of conditions.

The StepOne Comprehensive Biochemical Profile is performed by tandem mass spectrometry and 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.
  • For pre-punched DBS: The required minimum 6 punches with 3.2 mm or 4 punches 4.75 mm.
Condition: Follow the instructions provided with the collection set. Store the dried blood at ambient temperature for up to two days. If the specimen cannot be sent as soon as it is dry, the filter paper should be placed in a sealable plastic bag and stored in a refrigerator (≤ 8°C) or preferably in a freezer.
Shipping: Follow kit instructions. Double bag and ship overnight at ambient temperature.

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