Standard Document
Second Edition
Newborn Screening

CLSI NBS04

Newborn Screening by Tandem Mass Spectrometry

Discover new approaches to newborn screen through tandem mass spectrometry. CLSI NBS04 elaborates on this effective testing method to ensure life-threatening disorders not evident in birth are detected early and treated efficiently in infants.

This reaffirmed document has been reviewed and confirmed as suitable to remain published without revision to content, as of June 2022. 

May 26, 2017
Víctor R. De Jesús, PhD

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Abstract
Clinical and Laboratory Standards Institute guideline NBS04—Newborn Screening by Tandem Mass Spectrometry describes best practice procedures for specimen and reagent preparation, instrument and analyte calibration, method validation, QA and QC, run acceptance criteria with multianalyte platforms, external treatment effects on test results (eg, transfusions and total parenteral nutrition), results interpretation and reporting, follow-up recommendations, and the use of tandem mass spectrometry for second-tier testing.
Overview of Changes

This guideline replaces the previous edition of the guideline, NBS04-A, published in 2010. Several changes were made in this edition, including: 
• Reorganization to follow the path of workflow 
• Updating methodology and references throughout the guideline 
• Removing mass spectrometer setup instructions for m/z peak resolution (Subchapter 4.5.4.1) and providing the reference 
• Updating terminology throughout the guideline

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

Product Details
NBS04Ed2E
1-56238-819-3
108
Authors
Víctor R. De Jesús, PhD
Mark Kuracina, MBA, BSc
Mark A. Morrissey, PhD
Giancarlo la Marca, Pharm Sc
Donald H. Chace, PhD, MSFS, FACB
Adrienne Manning
Uttam Garg, PhD, DABCC
Mary A. Seeterlin, PhD
W. Harry Hannon, PhD
Dianne R. Webster, PhD, FHGSA
Christopher A. Haynes, PhD
Ronald J. Whitley, PhD, DABCC, FACB
Patricia Hunt
William W. Wood, PhD
David Kasper, PhD
Raquel Yahyaoui, MD, PhD
Abstract
Clinical and Laboratory Standards Institute guideline NBS04—Newborn Screening by Tandem Mass Spectrometry describes best practice procedures for specimen and reagent preparation, instrument and analyte calibration, method validation, QA and QC, run acceptance criteria with multianalyte platforms, external treatment effects on test results (eg, transfusions and total parenteral nutrition), results interpretation and reporting, follow-up recommendations, and the use of tandem mass spectrometry for second-tier testing.
Overview of Changes

This guideline replaces the previous edition of the guideline, NBS04-A, published in 2010. Several changes were made in this edition, including: 
• Reorganization to follow the path of workflow 
• Updating methodology and references throughout the guideline 
• Removing mass spectrometer setup instructions for m/z peak resolution (Subchapter 4.5.4.1) and providing the reference 
• Updating terminology throughout the guideline

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

NBS04Ed2E
1-56238-819-3
108
Authors
Víctor R. De Jesús, PhD
Mark Kuracina, MBA, BSc
Mark A. Morrissey, PhD
Giancarlo la Marca, Pharm Sc
Donald H. Chace, PhD, MSFS, FACB
Adrienne Manning
Uttam Garg, PhD, DABCC
Mary A. Seeterlin, PhD
W. Harry Hannon, PhD
Dianne R. Webster, PhD, FHGSA
Christopher A. Haynes, PhD
Ronald J. Whitley, PhD, DABCC, FACB
Patricia Hunt
William W. Wood, PhD
David Kasper, PhD
Raquel Yahyaoui, MD, PhD