Next Generation Sequencing (NGS)
- Next generation sequencing (NGS), or “Next Gen” as it is frequently called, is a technology that analyzes multiple genes at once. It is a cost-effective method of testing many potentially causative genes simultaneously rather than ordering separate Sanger sequencing one gene at a time.
- Next Gen is most helpful in cases where a patient has findings suspicious of multiple potential genetic causes, generally the result of either clinical ambiguity due to marked phenotypic overlap between various syndromes or numerous genetic causes for a single disorder.
- Our systematic data analysis references the most current versions of primary genomic databases, which translates to better mutation classification (e.g., benign vs. pathogenic).
- Pathogenic changes are confirmed by traditional Sanger sequencing or by another appropriate testing method.
- Even after careful analysis, some variants cannot yet be classified as benign or pathogenic and, therefore, are variants of uncertain significance.
- Next Gen will identify sequence variation, but it will not identify large deletions or duplications. A complimentary test such as whole genome microarray analysis or gene-specific deletion/duplication analysis would be needed to identify genetic dosage abnormalities.
- Next Gen is NOT whole exome sequencing or whole genome sequencing. The test will only identify mutations in the genes included on the panel ordered.
Additional Links: NGS Provider Fact Sheet