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Clinical features include central hypotonia, poor suck, learning and behavior problems, growth hormone deficiency with short stature, hyperphagia, and morbid obesity. Despite significant advances in genetic testing, the mean age for diagnosis in PWS continues to lag behind. Our goal was to perform a pilot feasibility study to confirm the diagnosis utilizing different genetic technologies in a cohort of 34 individuals with genetically confirmed PWS and 16 healthy controls from blood samples spotted and stored on newborn screening (NBS) filter paper cards. DNA was isolated from NBS cards, and PWS testing performed using DNA methylation\u2010specific PCR (mPCR) and the methylation specific\u2010multiplex ligation dependent probe amplification (MS\u2010MLPA) chromosome 15 probe kit followed by DNA fragment analysis for methylation and copy number status. DNA extraction was successful in 30 of 34 PWS patients and 16 controls. PWS methylation testing was able to correctly identify all PWS patients and MS\u2010MLPA was able to differentiate between 15q11\u2010q13 deletion and non\u2010deletion status and correctly identify deletion subtype (i.e., larger Type I or smaller Type II). mPCR can be used to diagnose PWS and MS\u2010MLPA testing to determine both methylation status as well as the type of deletion or non\u2010deletion status from DNA extracted from NBS filter paper. We propose that PWS testing in newborns is possible and could be included in the Recommended Uniform Screening Panel after establishing a validated cost\u2010effective method.<\/jats:p>","DOI":"10.1002\/ajmg.a.60681","type":"journal-article","created":{"date-parts":[[2018,12,17]],"date-time":"2018-12-17T08:17:41Z","timestamp":1545034661000},"page":"29-36","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Newborn screening for Prader\u2013Willi syndrome is feasible: Early diagnosis for better outcomes"],"prefix":"10.1002","volume":"179","author":[{"given":"Ranim","family":"Mahmoud","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Division of Genetics and Metabolism University of California  Irvine California"},{"name":"Faculty of Medicine, Department of Pediatrics Genetics Unit, Mansoura University  Mansoura Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Preeti","family":"Singh","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Neonatology University of California  Irvine California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lan","family":"Weiss","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Genetics and Metabolism University of California  Irvine California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anita","family":"Lakatos","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Genetics and Metabolism University of California  Irvine California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melanie","family":"Oakes","sequence":"additional","affiliation":[{"name":"Genomics High Throughput Facility University of California  Irvine California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Waheeda","family":"Hossain","sequence":"additional","affiliation":[{"name":"Department of Psychiatry and Behavioral Sciences Kansas University Medical Center  Kansas City Kansas"},{"name":"Department of Pediatrics Kansas University Medical Center  Kansas City Kansas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2911-0524","authenticated-orcid":false,"given":"Merlin G.","family":"Butler","sequence":"additional","affiliation":[{"name":"Department of Psychiatry and Behavioral Sciences Kansas University Medical Center  Kansas City Kansas"},{"name":"Department of Pediatrics Kansas University Medical Center  Kansas City Kansas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1567-4449","authenticated-orcid":false,"given":"Virginia","family":"Kimonis","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Genetics and Metabolism University of California  Irvine California"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,12,17]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31824"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1159\/000111795"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-017-0673-6"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1089\/gte.2007.0061"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1086\/301935"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1086\/367926"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320370122"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320350306"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-0-387-33536-0"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31507"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2016.178"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2018-105301"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ghir.2013.01.001"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1515\/jpem-2001-0805"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.0b013e31822bead0"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1086\/378816"},{"issue":"3","key":"e_1_2_6_18_1","first-page":"191","article-title":"Does the genetic cause of Prader\u2010Willi syndrome explain the highly variable phenotype?","volume":"11","author":"Dobrescu A. 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