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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 . Tandem Mass Spectrometry in Newborn Screening. Getting Started. Kenneth Pass, Ph.D. New York Department of Health. PLAN AHEA. D.
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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.
Tandem Mass Spectrometry in Newborn Screening Getting Started Kenneth Pass, Ph.D. New York Department of Health
PLAN AHEA D • Appropriate space • Power and air conditioners • Delineation of test panel • Qualified staff • Assay validation • Lab certification • Proficiency testing arrangements
Mor e.. • Followup considerations • Available medical specialists and diagnostic lab services • Adequate notification of physician community • Educational materials: lay and professional • Advisory committee
All Samples -- Single Replicate. C8 > 0.3 µmole/L C8 < 0.3 µmole/L Retest MS/MS analysis in Duplicate Report as Screen Negative Initiate DNA Testing C8 < 0.3 µmole/L C8 > 0.4 µmole/L, or Average of No DNA Mutations 1 or 2 DNA mutations detected initial plus re- test 1 or 2 DNA mutations Report as Fatty Acid Report as Screen Negative Oxidation Disorder 0.3 < C8 < 0.4 Probably MCADD Refer to treatment < 14 days old at sampling > 14 days old at sampling center No Mutations No mutations detected Report as Elevated C8 Evaluation of MCADD, Analysis of C8