Microarray-Based DNA Methylation Profiling: Validation Considerations for Clinical Testing.
J Mol Diagn
; 26(6): 447-455, 2024 Jun.
Article
em En
| MEDLINE
| ID: mdl-38378079
ABSTRACT
Microarray-based methylation profiling has emerged as a valuable tool for refining diagnoses and revealing novel tumor subtypes, particularly in central nervous system tumors. Despite the increasing adoption of this technique in clinical genomic laboratories, no technical standards have been published in establishing minimum criteria for test validation. A working group with experience and expertise in DNA-based methylation profiling tests on central nervous system tumors collaborated to develop practical discussion points and focus on important considerations for validating this test in clinical laboratory settings. The experience in validating this methodology in a clinical setting is summarized. Specifically, the advantages and challenges associated with utilizing an in-house classifier compared with a third-party classifier are highlighted. Additionally, experiences in demonstrating the assay's sensitivity and specificity, establishing minimum sample criteria, and implementing quality control metrics are described. As methylation profiling for tumor classification expands to other tumor types and continues to evolve for various other applications, the critical considerations described here are expected to serve as a guidance for future efforts in establishing professional guidelines for this assay.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Metilação de DNA
/
Análise de Sequência com Séries de Oligonucleotídeos
Idioma:
En
Ano de publicação:
2024
Tipo de documento:
Article