As part of ScreenPlus’ commitment to enhancing the accuracy of NBS for rare disorders, we are using a multi-tiered screening platform developed in conjunction with our expert collaborators.
Multi-tiered Assay at the Newborn Screening Laboratory
First Tier Testing
First tier screening assays are performed for all ScreenPlus disorders using a megaplex assay for 11 disorders (ASMD, CLN2, Fabry, Gaucher, GM1, LAL-D, MPS types II, IIIB, IVA, VI, and VII), and a separate LC-MS-MS based assay for the remaining 3 (NPC, CTX, and MLD).
Second Tier Testing
Second tier analyses will be performed for samples that screen abnormal for certain disorders.
The purpose of second tier analysis is to enhance screening accuracy by quantifying a disorder-specific biomarker.
For some of the disorders, second tier testing will be performed in the labs of ScreenPlus collaborators who are NBS experts for these particular assays and/or disorders.
Third Tier Testing
Third tier screening for ScreenPlus disorders is DNA-based, with full sequencing of the relevant disorder gene(s).
Confirmatory Testing at the ScreenPlus Geneticist’s Office
All infants who receive a positive screen after the multi-tiered testing will be referred using standard notification procedures. The New York State reporting team will contact the ScreenPlus site medical geneticist, who then will communicate with the newborn’s pediatrician and family.
All patients will be seen directly by the site ScreenPlus physician. The initial evaluation, which will be paid for by this study, will include a clinical examination and confirmatory molecular studies, enzymatic and/or biomarker studies using blood and/or urine samples.
This examination and testing are done to confirm if the baby really has the disorder, as is typically done for all disorders detected through screening. If these results are also abnormal, your baby will be monitored by the ScreenPlus physician and your pediatrician, and treatment options will be explored.