Get Tested for SDS

If your results were inconclusive (i.e., one or more variants of uncertain significance were identified), we encourage you to periodically check in with the care team member who originally ordered genetic testing to see if there have been any changes in the classification of the variant(s) identified. As our scientific understanding of SDS expands, sometimes variants of uncertain significance (VUS) can be upgraded to positive (i.e., pathogenic or likely pathogenic) or downgraded to negative (i.e., benign or likely benign). Changes in the classification of these VUSs can have implications for care management, surveillance, and potentially genetic testing for other family members. Further genetic work-up for individuals with a clinical concern for SDS may be helpful for those with negative genetic testing – approximately 10% of individuals with a clinical concern for SDS do not have a known genetic cause, suggesting that pathogenic variant(s) may be in other genes not yet identified. For those with previous negative or inconclusive genetic testing, there are other more thorough types of genetic testing, such as whole exome sequencing (WES) or whole genome sequencing (WGS), that look for errors in the entire instruction manual, meaning all of the genes in your cells (over 20,000!) are analyzed. These kinds of genetic testing can be costly and time-consuming but may provide an answer for some families as we learn more about the genetic cause(s) of SDS. If only one pathogenic variant was identified in an autosomal recessive SDS gene (e.g., SBDS, EFL1, or DNAJC21), OR one or more variants of uncertain significance were identified, OR genetic testing results were negative, you may be eligible to participate in one or more of these research genetic testing opportunities. It is important to note that participating in research-based genetic testing may take longer than clinical genetic testing and that not all individuals who participate will have a result identified. If one or more variants are identified in the research setting, these findings may need to be confirmed with clinical genetic testing before they can be used to help guide medical management.