{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T16:55:31Z","timestamp":1788886531503,"version":"build-2803163510"},"reference-count":7,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2015,7,16]],"date-time":"2015-07-16T00:00:00Z","timestamp":1437004800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["DP2 MH100008"],"award-info":[{"award-number":["DP2 MH100008"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,11]]},"abstract":"<jats:sec><jats:label\/><jats:p>Inherited leukodystrophies are a group of neurological disorders with significant morbidity and mortality. Children and their families can experience lengthy diagnostic odysseys; however, there is no data on the charges related to testing for diagnosis in leukodystrophy patients, compared to approaches using next\u2010generation sequencing (NGS). Our objective was to determine charges related to the determination of diagnosis, and overall yield of diagnostic testing, for leukodystrophy patients. We determined and quantified all inpatient and outpatient lab testing, including brain MRIs, obtained for the purpose of diagnosis, in a retrospective population cohort of children with inherited leukodystrophies. Each patient had average charges of $8,231 (range $543\u201326,437) for diagnostic testing. Overall charges related to diagnosis for the entire cohort was $526,794. A final etiological diagnosis was determined in 34% of patients. In those in whom a specific diagnosis was determined, average time to diagnosis was 1.4 years. If NGS on the entire cohort had been performed instead, charges would have been \u223c$359,600 (at $5,800\/patient). Alternatively, a two\u2010tier approach consisting of first, biochemical testing (serum very\u2010long chain fatty acids and leukocyte lysosomal enzyme testing), and then with NGS for remaining undiagnosed patients, would have resulted in total cohort charges of $361,309. We have determined the charges directly associated with diagnostic testing in a population cohort of children with leukodystrophy. We conclude that appropriately incorporating NGS into diagnostic algorithms could lower charges; reduce time to diagnosis; and reduce amount of testing. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37215","type":"journal-article","created":{"date-parts":[[2015,7,17]],"date-time":"2015-07-17T05:09:17Z","timestamp":1437109757000},"page":"2541-2543","source":"Crossref","is-referenced-by-count":15,"title":["Targeted leukodystrophy diagnosis based on charges and yields for testing"],"prefix":"10.1002","volume":"167","author":[{"given":"Jackson","family":"Richards","sequence":"first","affiliation":[{"name":"University of Utah School of Medicine Salt Lake City Utah"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E. Kent","family":"Korgenski","sequence":"additional","affiliation":[{"name":"Intermountain Healthcare Salt Lake City Utah"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ryan J.","family":"Taft","sequence":"additional","affiliation":[{"name":"Illumina, Inc. San Diego CA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adeline","family":"Vanderver","sequence":"additional","affiliation":[{"name":"Center for Genetic Medicine Research Children's National Health System Washington, DC"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joshua L.","family":"Bonkowsky","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurology Department of Pediatrics, University of Utah School of Medicine, Salt Lake City Utah"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,7,16]]},"reference":[{"key":"e_1_2_6_2_1","unstructured":"http:\/\/www.ambrygen.com\/exomenextAccessed January 15 2015."},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3181eee46b"},{"key":"e_1_2_6_4_1","first-page":"162","article-title":"Determinants of health care use in a population\u2010based leukodystrophy cohort","author":"Nelson C","year":"2013","journal-title":"J Pediatr"},{"key":"e_1_2_6_5_1","volume-title":"Leukodystrophies","author":"Raymond G","year":"2011"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.3010076"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000343049.00540.c8"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1306555"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.37215","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.37215","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T20:59:12Z","timestamp":1696625952000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37215"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,7,16]]},"references-count":7,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2015,11]]}},"alternative-id":["10.1002\/ajmg.a.37215"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.37215","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,7,16]]}}}