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[Genetic sequencing panel for motor-sensory hereditary neuropathy diagnosis] |
Tapia López E, Soto N, Pichon-Riviere A, Augustovski F, García Martí S, Alcaraz A, Ciapponi A, Bardach A |
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Record Status This is a bibliographic record of a published health technology assessment from a member of INAHTA. No evaluation of the quality of this assessment has been made for the HTA database. Citation Tapia López E, Soto N, Pichon-Riviere A, Augustovski F, García Martí S, Alcaraz A, Ciapponi A, Bardach A. [Genetic sequencing panel for motor-sensory hereditary neuropathy diagnosis] Buenos Aires: Institute for Clinical Effectiveness and Health Policy (IECS). Documentos de Evaluación de Tecnologías Sanitarias, Informe de Respuesta Rapida No 539. 2017 Authors' conclusions Scarce and low-quality evidence has not demonstrated that genetic sequencing tests would have additional benefits in identifying phenotype-guided mutations in the diagnosis of motor-sensory hereditary neuropathy. It is important to consider that in general the tests report non-conclusive or uncertain results, thus causing potential adverse consequences to the patients and their families.
In general, the clinical practice guidelines assessed do not recommend genetic sequencing panels, although they do recommend detecting PMP22 gene duplication if type 1 motor sensory hereditary neuropathy is suspected, and MFN2 gene if type 2 motor sensory hereditary neuropathy is suspected, since both types are the most prevalent. The coverage policies assessed do not consider genetic sequencing test coverage; however, regarding the detection of motor-sensory hereditary neuropathy associated genes, there is no consensus on coverage since some consider them diagnostic tests at investigational stage and medically unnecessary. Final publication URL www.iecs.org.ar Indexing Status Subject indexing assigned by CRD MeSH Charcot-Marie-Tooth Disease; Hereditary Sensory and Motor Neuropathy; Humans Language Published Spanish Country of organisation Argentina English summary There is no English language summary available. Address for correspondence Institute for Clinical Effectiveness and Health Policy, Viamonte 2146 - 3 Piso, C1056ABH Ciudad de Buenos Aires, Argentina Tel: +54 11 49 66 00 82 Fax:+54 11 49 53 40 58 Email: info@iecs.org.ar AccessionNumber 32017000304 Date abstract record published 13/06/2017 |
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