Test Methods
Exome sequencing
Specimen Types Accepted
Blood
Saliva
Cultured Cells
Extracted DNA
Documents
Additional Information
Our Exome Select testing option involves whole exome sequencing (proband only), with analysis limited to a customized gene list of interest.
Exome Select may be an appropriate option for patients where the suspected or differential diagnosis has a limited number of associated candidate genes, but no panel exists that includes all candidate genes.
Exome Select can also be useful for cases where clinical testing is not available for the gene(s) of interest.
The gene list of interest may be provided to the laboratory by the ordering provider, or UCGS may assist in developing a gene list for providers interested in genes associated with a specific syndrome.
The selected gene list must be approved in advance by a UCGS staff member.
If you are interested in ordering the Exome Select test, please contact one of our genetic counselors to discuss further, prior to sending a sample.