The exome is the part of our DNA that contains the instructions for making proteins—the building blocks of our bodies. Exome sequencing is a technique that reads these specific regions of DNA to identify any mutations or changes that might be responsible for a disease. This method has been particularly useful in diagnosing rare diseases, especially in children with conditions like congenital birth defects, intellectual disabilities, and neurodevelopmental disorders.
However, exome sequencing isn’t perfect. Sometimes, it finds changes in the DNA that are difficult to interpret. These changes are known as “variants of uncertain significance,” meaning that scientists aren’t sure if they cause disease or not. This uncertainty can leave patients without clear answers.
The Power of RNA Sequencing
This is where RNA sequencing comes into play. RNA is like a messenger that carries the instructions from DNA to the cell’s machinery to make proteins. By analyzing RNA, scientists can get a clearer picture of how the DNA changes are actually affecting the body. The new ExomeReveal™ test by Ambry Genetics combines traditional exome sequencing with RNA analysis, which helps resolve those tricky variants of uncertain significance.
Here’s how it works: If the DNA sequencing identifies a change that might affect how a gene is spliced (a process where the cell edits RNA to produce the correct protein), RNA analysis can determine whether that change is actually causing problems. This additional layer of information allows doctors to make more accurate diagnoses.
For families affected by rare diseases, every diagnosis is crucial. It not only helps them understand what’s happening but also opens the door to better medical care and potential treatments. By adding RNA analysis to exome sequencing, the ExomeReveal test improves the chances of finding the cause of a disease. This advancement means that more patients can receive a diagnosis, which can be life-changing.
Moreover, Ambry Genetics doesn’t stop at just one test. Patients who undergo ExomeReveal testing are automatically enrolled in a program that reanalyzes their genetic data over time as new scientific discoveries are made. This ongoing analysis can provide additional answers, even years after the initial test.
Source – Ambry Genetics
New exome diagnostic test includes RNA analysis of qualified splicing variants that cannot be classified from DNA alone
