BioExome is the new service range for Next Generation Sequencing (NGS) based on exome and exome-based panels.
Often, some pathologies may present a high clinical and genetic variability.
This sort of pathologies with great heterogeneity is suitable for genetic testing through exome using NGS technology.
It is a Clinical Exome sequencing and analysis of 30 genes related to the disease that clinical findings suggest.
BioExome 30 is indicated for such genetic diseases which are relatively well defined, as for instance RASopathies, Charcot-Marie- Tooth, Mediterranean fever, etc.
It is a Clinical Exome sequencing and analysis of 100 genes related to the disease that clinical findings suggest. BioExome 100 is indicated for pathologies which are multi-genic or having a phenotype which is not specific for a reduced number of genes. Some examples are ciliopathies, skeletal dysplasias, cardiopathies, mitochondrial disease, etc.
BioExome 500 is the suitable choice for such pathologies in which a vast number of genes are involved, or those in which related genes are not know beforehand, with non-specific phenotypes.
It is a Clinical Exome sequencing and analysis of 6200 genes.
This test is intended for Neonatology Services where there is urgency for the delivery of results, in order to take immediate medical decision.
A selected list of 800 genes is analyzed with a turnaround time of 30 days.
Patient can be sequenced alone, but this test is especially efficient when other patient’s relatives are included in the analysis, typically the patient’s parents
In this way the test sensitivity is increased, since comparison of sequences from patient and parents allows focusing on de novo variants or those that have been inherited in compound heterozygosity.