Genome sequencing

Today, millions of patients with genetic diseases suffer from an unspecified diagnosis. Although in some cases, approaches such as single gene or gene panel testing can identify the cause of disease, the percentage of detectable genetic changes using this approach is rather limited.

The analysis of mutations in coding regions of the genome (whole exome sequencing) accounts for only 1-2% of all DNA.

According to the current literature, the analysis of non-coding DNA sequence variants can provide important information in the diagnosis of genetic diseases.

Although much more genetic variation can be identified by whole genome sequencing than by single gene or exome sequencing, the significance of the majority of this information is unknown. 

Since not all genetic changes affect health, it is not always possible to determine whether the variants identified are the cause of the condition in question.

Sometimes an identified variant is linked to another genetic disorder that has not yet been diagnosed (these are called incidental or secondary findings).