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

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

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

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

For parents...

…and professionals.