CentoXome® Whole Exome Sequencing
CentoXome® whole exome sequencing (WES) provides information on most genes, enabling quicker and more cost-effective diagnosis for patients with complex or unclear symptoms.
How is WES different to standard genetic testing?
All the genetic information (DNA) each human possesses is referred to as the human genome. Incredibly, only 2% of our human genome carries instructions for our growth and development; this is known as the exome.
Although the exome is a small part of the genome, 80% of the genetic changes (mutations) that cause genetic disorders are thought to be found there. A lot of research has been performed on the exome which aids with identification and interpretation of mutations in this region compared to the rest of the genome.
How does WES genetic testing help?
Standard genetic testing for complex cases, where one or a small number of genes are analyzed at a time, is costly and time-consuming, and a delayed diagnosis could have a dramatic impact on the patient’s quality of life.
CentoXome® whole exome sequencing enables a quicker, more cost-effective diagnostic solution and can lead to more effective, tailored therapy options. Unnecessary therapies and examinations can be avoided and patients can ascertain how likely it is that a diagnosed disorder will be passed on to their children.
How is WES assessed?
Whereas most genetic tests focus on a single gene or on a set number of predetermined genes, a WES test examines a much wider breadth of targets, which is especially useful – for the most complex health conditions.
Sequencing data from >20,000 genes, provided by a simple patient blood sample, is carefully analyzed and interpreted by our highly experienced medical team, incorporating in-depth clinical information and a detailed family history. A comprehensive clinical diagnostic report is sent to your doctor.
What can I expect from CentoXome® WES?
Positive result – identification of a causative genetic change in a gene that has been linked to your symptoms. A positive result enables your doctor to make a clear diagnosis and help decide on any treatment or other steps to safeguard your health.
Unclear result – a change has been identified and the gene concerned is known to be associated with disorder, but it is not certain if the specific change we found actually causes the disorder. Additional genetic testing in other family members can be considered which could help the causative nature of the change identified.
Negative result – no genetic changes are identified. Either there is no genetic cause for your disorder, or a mutation exists in a region of the exome that is not covered by this type of exome sequencing analysis. Additional analysis, such as whole genome sequencing, may be recommended.
Consult your doctor
The information obtained from genetic testing can have a profound impact on your life. Prior to any genetic testing, we strongly recommend that you seek genetic counseling to understand more about which of the following options might be beneficial for you and your relatives. Genetic counseling is also recommended to help you understand your genetic test results and their implications for other family members.
At CENTOGENE, we only accept genetic tests ordered by a doctor on your behalf, to ensure that you have access to full support and backup to make informed decisions about your future healthcare.