title: Costs of the diagnostic odyssey in children with inherited leukodystrophies.
abstract: OBJECTIVE
  Our objective was to determine the extent of testing and costs solely related to diagnosis (the diagnostic odyssey) in a cohort of children with inherited leukodystrophies.
  
  
  METHODS
  We determined all inpatient and outpatient laboratory testing, including brain MRIs obtained for the purpose of diagnosis, over an 8-year time period in a retrospective population cohort of children with inherited leukodystrophies. Costs were determined from an activity-based cost accounting system and were standardized to 2013 constant US dollars.
  
  
  RESULTS
  Each patient had on average 20 tests (range 2-42 tests), with costs of $4,200 (range $357-$15,611). Diagnostic yield plateaued after 25 tests, and costs increased significantly after 32 tests. Fifty-three percent of patients were diagnosed in 20 or fewer tests, compared with 17% if more than 20 tests were performed.
  
  
  CONCLUSIONS
  Our findings provide details on the amount and costs of testing in children who often undergo a diagnostic odyssey. Our results suggest that diagnostic testing is a relatively modest contributor to the overall health care costs in patients with leukodystrophy, and offer insights into the diagnostic odyssey of children with neurologic impairment.
authors: From the Division of Inpatient Medicine, Department of Pediatrics (R.S.), and Division of Pediatric Neurology, Department of Pediatrics (J.L.B.), University of Utah School of Medicine (J.R.), Salt Lake City; Institute for Health Care Delivery Research (R.S.), Intermountain Healthcare (E.K.K.), Salt Lake City, UT.
authors: Jackson
authors: J
authors: Richards
authors: From the Division of Inpatient Medicine, Department of Pediatrics (R.S.), and Division of Pediatric Neurology, Department of Pediatrics (J.L.B.), University of Utah School of Medicine (J.R.), Salt Lake City; Institute for Health Care Delivery Research (R.S.), Intermountain Healthcare (E.K.K.), Salt Lake City, UT.
authors: E Kent
authors: EK
authors: Korgenski
authors: From the Division of Inpatient Medicine, Department of Pediatrics (R.S.), and Division of Pediatric Neurology, Department of Pediatrics (J.L.B.), University of Utah School of Medicine (J.R.), Salt Lake City; Institute for Health Care Delivery Research (R.S.), Intermountain Healthcare (E.K.K.), Salt Lake City, UT.
authors: Rajendu
authors: R
authors: Srivastava
authors: From the Division of Inpatient Medicine, Department of Pediatrics (R.S.), and Division of Pediatric Neurology, Department of Pediatrics (J.L.B.), University of Utah School of Medicine (J.R.), Salt Lake City; Institute for Health Care Delivery Research (R.S.), Intermountain Healthcare (E.K.K.), Salt Lake City, UT. joshua.bonkowsky@hsc.utah.edu.
authors: Joshua L
authors: JL
authors: Bonkowsky
mesh_terms: D002648:Child; D005260:Female; D017048:Health Care Costs; D020279:Hereditary Central Nervous System Demyelinating Diseases / Q000175:diagnosis* / Q000191:economics*; D006801:Humans; D007965:Leukodystrophy, Globoid Cell / Q000175:diagnosis / Q000191:economics; D007966:Leukodystrophy, Metachromatic / Q000175:diagnosis / Q000191:economics; D008297:Male; D020371:Pelizaeus-Merzbacher Disease / Q000175:diagnosis / Q000191:economics; D012189:Retrospective Studies