Genetic-molecular characterization in the diagnosis of primary immunodeficiencies.

CONCLUSIONS: There are many evident benefits of genetic analysis, such as the definitive diagnosis of the disease, family genetic counseling, and the possibility of a more adequate and accurate management. Cost, access and interpretation of genetic test results are limitations that need continuous improvement. The understanding of the benefits and limits of the several genetic assessment methodologies related to primary immunodeficiencies is essential to obtain more effective results from the sequencing. PMID: 33121930 [PubMed - as supplied by publisher]
Source: Jornal de Pediatria - Category: Pediatrics Authors: Tags: J Pediatr (Rio J) Source Type: research