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Laboratory diagnosis of disorders of peroxisomal biogenesis and function: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
De Biase, Irene; Tortorelli, Silvia; Kratz, Lisa; J Steinberg, Steven; Cusmano-Ozog, Kristina; Braverman, Nancy.
Afiliación
  • De Biase I; Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT, USA.
  • Tortorelli S; ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT, USA.
  • Kratz L; Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, MN, USA.
  • J Steinberg S; Kennedy Krieger Institute, Johns Hopkins University, Baltimore, MD, USA.
  • Cusmano-Ozog K; ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT, USA.
  • Braverman N; Rare Disease Institute, Children's National, Washington, DC, USA.
Genet Med ; 22(4): 686-697, 2020 04.
Article en En | MEDLINE | ID: mdl-31822849
Peroxisomal disorders are a clinically and genetically heterogeneous group of diseases caused by defects in peroxisomal biogenesis or function, usually impairing several metabolic pathways. Peroxisomal disorders are rare; however, the incidence may be underestimated due to the broad spectrum of clinical presentations. The inclusion of X-linked adrenoleukodystrophy to the Recommended Uniform Screening Panel for newborn screening programs in the United States may increase detection of this and other peroxisomal disorders. The current diagnostic approach relies heavily on biochemical genetic tests measuring peroxisomal metabolites, including very long-chain and branched-chain fatty acids in plasma and plasmalogens in red blood cells. Molecular testing can confirm biochemical findings and identify the specific genetic defect, usually utilizing a multiple-gene panel or exome/genome approach. When next-generation sequencing is used as a first-tier test, evaluation of peroxisome metabolism is often necessary to assess the significance of unknown variants and establish the extent of peroxisome dysfunction. This document provides a resource for laboratories developing and implementing clinical biochemical genetic testing for peroxisomal disorders, emphasizing technical considerations for sample collection, test performance, and result interpretation. Additionally, considerations on confirmatory molecular testing are discussed.
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Trastorno Peroxisomal / Genética Médica Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans / Newborn País/Región como asunto: America do norte Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Estados Unidos

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Trastorno Peroxisomal / Genética Médica Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans / Newborn País/Región como asunto: America do norte Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Estados Unidos