[Usefulness of COL4A1 gene sequencing]
Pichon Riviere A, Augustovski F, Garcia Marti S, Glujovsky D, Alcaraz A, Lopez A, Bardach A, Ciapponi A, Romano M
Record ID 32014000321
Spanish
Authors' objectives:
To assess the evidence available on the efficacy, safety and coverage related aspects regarding the usefulness of COL4A1 gene sequencing.
Authors' recommendations:
The spectrum of COL4A1 gen-related diseases has been recently described and there are still few cases reported worldwide, consequently, all the recommendations are based on expert opinions. Diagnosis is based on clinical manifestations (already described in the introduction) and genetic testing. The mutation genetic test may be useful in individuals with high clinical suspect disease. Despite the fact that there is no specific treatment for the disease, a support treatment and genetic counseling may be provided. This may also be useful in first degree family members of a confirmed case.
Details
Project Status:
Completed
Year Published:
2011
URL for published report:
https://www.iecs.org.ar/home-ets/?cod_publicacion=1311&origen_publicacion=publicaciones
English language abstract:
An English language summary is available
Publication Type:
Not Assigned
Country:
Argentina
MeSH Terms
- Sequence Analysis, DNA
Contact
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.