[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
Record ID 32017000304
Authors' recommendations: 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.
Project Status: Completed
Year Published: 2017
URL for published report: www.iecs.org.ar/home-ets/
English language abstract: An English language summary is available
Publication Type: Not Assigned
Country: Argentina
MeSH Terms
  • Charcot-Marie-Tooth Disease
  • Hereditary Sensory and Motor Neuropathy
  • Humans
Organisation Name: Institute for Clinical Effectiveness and Health Policy
Contact Address: Dr. Emilio Ravignani 2024, Buenos Aires - Argentina, C1414 CABA
Contact Name: info@iecs.org.ar
Contact Email: info@iecs.org.ar
Copyright: Institute for Clinical Effectiveness and Health Policy (IECS)
This is a bibliographic record of a published health technology assessment from a member of INAHTA or other HTA producer. No evaluation of the quality of this assessment has been made for the HTA database.