Literature DB >> 27554703

The utility of genetic testing in neuromuscular disease: A consensus statement from the AANEM on the clinical utility of genetic testing in diagnosis of neuromuscular disease.

Charles D Kassardjian1, Anthony A Amato1, Andrea J Boon1, Martin K Childers1, Christopher J Klein1.   

Abstract

INTRODUCTION: The aim of this consensus statement is to provide a recommendation from AANEM experts on the clinical utility of genetic testing. It is not meant to recommend or endorse any specific genetic testing methodology or algorithm.
METHODS: The AANEM Professional Practice Committee reached a consensus based on expert opinion on the utility of genetic testing in neuromuscular diseases and made recommendations on factors that physicians and patients should consider when deciding whether to proceed with such testing.
RESULTS: Despite the costs of genetic testing, these tests can be both valuable and beneficial in the diagnosis and treatment of neuromuscular diseases in many situations.
CONCLUSIONS: The AANEM believes that performing genetic testing to arrive at a specific molecular diagnosis is a critical step in providing high-quality care to neuromuscular patients. The cost of testing should not be a deterrent, as there are important clinical, safety, psychosocial, and research benefits. Muscle Nerve 54: 1007-1009, 2016.
© 2016 American Association of Neuromuscular & Electrodiagnostic Medicine.

Entities:  

Keywords:  AANEM; NM; genetic testing; neuromuscular; neuromuscular disease; neuromuscular medicine

Mesh:

Year:  2016        PMID: 27554703     DOI: 10.1002/mus.25387

Source DB:  PubMed          Journal:  Muscle Nerve        ISSN: 0148-639X            Impact factor:   3.217


  3 in total

Review 1.  Developing multidisciplinary clinics for neuromuscular care and research.

Authors:  Sabrina Paganoni; Katie Nicholson; Fawn Leigh; Kathryn Swoboda; David Chad; Kristin Drake; Kellen Haley; Merit Cudkowicz; James D Berry
Journal:  Muscle Nerve       Date:  2017-08-29       Impact factor: 3.217

Review 2.  Inherited Paediatric Motor Neuron Disorders: Beyond Spinal Muscular Atrophy.

Authors:  Hooi Ling Teoh; Kate Carey; Hugo Sampaio; David Mowat; Tony Roscioli; Michelle Farrar
Journal:  Neural Plast       Date:  2017-05-28       Impact factor: 3.599

Review 3.  Facilitations and Hurdles of Genetic Testing in Neuromuscular Disorders.

Authors:  Andrea Barp; Lorena Mosca; Valeria Ada Sansone
Journal:  Diagnostics (Basel)       Date:  2021-04-14
  3 in total

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