Thanks to significant advances in next-generation sequencing (NGS), it has been possible to develop tests ranging from one single gene to panels with groups of genes, including the exome, enhancing diagnostic capacity in a shorter amount of time and at more affordable prices.
NGS panels are genetic tests that include genes that cause a single disease. They are used when the phenotype of the patient is clear and the cause is attributed to multiple genes. They can include from two to hundreds of genes.
The panels available at ICM are developed by our team of experts based on the recommendations of the scientific community and the latest published articles. The genes included in these dynamic panels can vary depending on the scientific publications.
ICM can also design panels at the request of specialists. Below, we show the panels currently available at ICM. If there is a special clinical need, ICM makes clinical panels available tailored to those needs.
Not all the options available on the market offer the same coverage and, therefore, same diagnostic capacity.
To ascertain the diagnostic capacity of a technique, it is vital to understand two key concepts: coverage and depth.
- Coverage is the percentage of coding regions that are studied. A coverage of 100% indicates that we are capable of detecting a mutation in any part of the gene. If we have a coverage of less than 100%, there will be regions that will not be analysed.
- The depth is the number of times that a coding region is amplified or copied. NGS is carried through a multiple reading system, meaning that each region is copied multiple times. In order to detect a mutation in heterozygosis, the depth must be at least 20X. Depth below this number of copies means that many mutations may not be detected. For reasons of quality and diagnostic safety, ICM does not report below a coverage of 30X. Greater depth means greater detection capacity.
All of ICM’s NGS panels offer an average depth of 200X and a minimum of 30X as well as 100% coverage of the coding regions of all the genes, guaranteeing their diagnostic capacity.
Mutations by insertion/deletion of 10 nucleotides or more cannot be detected using this methodology. This technology can also not be used to identify certain mutation types known as large deletions and rearrangements.