biostudies-literatureStutterd CANINDS NIH HHS104551https://www.ebi.ac.uk/biostudies/studies/S-EPMC11479680biostudies-literatureUnknown65(9)<h4>Background</h4>Next generation sequencing studies have revealed an ever-increasing number of causes for genetic disorders of central nervous system white matter. A substantial number of disorders are identifiable from their specific pattern of biochemical and/or imaging findings for which single gene testing may be indicated. Beyond this group, the causes of genetic white matter disorders are unclear and a broader approach to genomic testing is recommended.<h4>Aim</h4>This study aimed to identify the genetic causes for a group of individuals with unclassified white matter disorders with suspected genetic aetiology and highlight the investigations required when the initial testing is non-diagnostic.<h4>Methods</h4>Twenty-six individuals from 22 families with unclassified white matter diEuropean journal of medical geneticsUnclassified white matter disorders: A diagnostic journey requiring close collaboration between clinical and laboratory services.PMC11479680U54 NS115052Peters HStutterd CAVanderver APatel CLockhart PJFreeman JLHelman GUebergang EKornberg AJSinclair AThorburn DScheffer IEDelatycki MBLeventer RJWolf NIvan der Knaap MSField MMackay MTDavis MRNolan MPope KFahey MRodriguez-Casero VSilberstein JLove CTaft RJWaak MSimons CfalseUnclassified white matter disorders: A diagnostic journey requiring close collaboration between clinical and laboratory services.<h4>Background</h4>Next generation sequencing studies have revealed an ever-increasing number of causes for genetic disorders of central nervous system white matter. A substantial number of disorders are identifiable from their specific pattern of biochemical and/or imaging findings for which single gene testing may be indicated. Beyond this group, the causes of genetic white matter disorders are unclear and a broader approach to genomic testing is recommended.<h4>Aim</h4>This study aimed to identify the genetic causes for a group of individuals with unclassified white matter disorders with suspected genetic aetiology and highlight the investigations required when the initial testing is non-diagnostic.<h4>Methods</h4>Twenty-six individuals from 22 families with unclassified white matter di2022-01-01T00:00:00Z2022 Sep2025-04-04T23:47:46.209Z2025-04-04T23:47:46.209ZS-EPMC114796803580356010.1016/j.ejmg.2022.104551