scope:

This guideline is intended to assist newborn screening (NBS) laboratory personnel in the routine use of tandem mass spectrometry (MS/MS) for the detection of metabolites that may indicate certain metabolic disorders using dried blood spot (DBS) specimens. The guideline describes:

• Preparation procedures for reagents, specimens, standards, and controls

• Calibration (both instrument and analyte)

• Standardization

• Control acceptance criteria

• Disorder profiles (interpretation of MS/MS spectra)

• External effects on results (eg, transfusion and total parenteral nutrition [TPN])

• Results reporting

• Second-tier testing

• Follow-up recommendations

This guideline:

• Is not intended to provide general information for screening on all conditions, only screening information related to MS/MS

• Does not cover confirmatory or diagnostic testing