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Important: The use of brand names in this series of presentations is for purposes of description only. No endorsement is implied or intended.

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Presentation on theme: "Important: The use of brand names in this series of presentations is for purposes of description only. No endorsement is implied or intended."— Presentation transcript:

1 Important: The use of brand names in this series of presentations is for purposes of description only. No endorsement is implied or intended.

2 Getting Started Kenneth Pass, Ph.D. New York Department of Health Tandem Mass Spectrometry in Newborn Screening

3 PLAN AHEA Appropriate space Power and air conditioners Delineation of test panel Qualified staff Assay validation Lab certification Proficiency testing arrangements D

4 Mor Followup considerations Available medical specialists and diagnostic lab services Adequate notification of physician community Educational materials: lay and professional Advisory committee e..

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8 Evaluation of MCADD, Analysis of C8 C8 < 0.3 µmole/LC8 > 0.4 µmole/L, or No DNA Mutations1 or 2 DNA mutations detected 1 or 2 DNA mutations No Mutations < 14 days old at sampling> 14 days old at sampling No mutations detected All Samples -- Single Replicate. C8 < 0.3 µmole/L Report as Screen Negative C8 > 0.3 µmole/L Retest MS/MS analysis in Duplicate Initiate DNA Testing Average of initial plus re- test Report as Screen Negative Report as Fatty Acid Oxidation Disorder Probably MCADD Refer to treatment center 0.3 < C8 < 0.4 Report as Elevated C8

9 For parents...

10 …and professionals.


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