Intellectual disability (research panel) [3362 genes]

The intellectual disability research panel includes not only genes with high evidence related to the phenotype, but also those with moderate and low evidence.

Recommended service when there is a strong suspicion of having a patient with an intellectual disability of genetic origin and you want to deepen the analysis in search of the possible cause. The result can often be uncertain and an extension of genetic or non-genetic studies in the patient and/or family may be required to obtain valid conclusions. Likewise, it may be an appropriate panel for research work in the field of intellectual disability, since all candidate genes have been selected to be involved in intellectual disability and thus carry out a more limited study compared to sequencing and subsequent analysis of the whole exome.

This service may be the appropriate way to finally reach a suspected diagnosis in patients for whom the main genetic determinations usually requested in this clinical context have already been completed.

Clinically indicated service when there is a strong suspicion of having a patient with an intellectual disability of genetic origin and you want to deepen the analysis in search of the possible cause, as long as the doctor, patient, and family agree to handle a higher level of uncertainty as part of the path to reaching a definitive diagnosis.