Clinical Exome Service
For user-defined gene panels, providing a high degree of flexibility, the best option where extension analysis to further genes may be considered.
These NGS services utilise the SureSelect Focused Exome reagent which includes only disease-associated genes (around 6000, or a quarter of all human genes). A range of commonly requested gene panels is offered, but the user may ask the laboratory for suitability of this approach for any gene or panel of genes. (Please note that certain genes may be poorly represented in results from this approach, for technical and biological reasons, so requests for previously untested genes must be assessed before accepting the referral). In addition, several services are available using the SureSelect v.5 Whole Exome (which includes all human genes, over 20,000 in total); sequencing using this methodology can focus on standard gene panels, and eventually be extended to cover more agnostic methods, including “sign-posting” the data to research collaborators for new gene discovery.
Dosage analysis - although the assay does not provide sufficient sensitivity for inclusion on diagnostic reports, dosage is examined and where deletion or duplication is suspected and is thought to be clinically relevant, we will attempt to confirm this using a validated method, and report results to the clinician.
The Yorkshire and North East Genomic Laboratory Hub, Central Lab has significant experience in performing tailored genomics. To date, we have processed over 1000 diagnostic exome referrals, utilising over 200 different bespoke gene panels comprising in excess of 1000 disease genes.
Standard services currently offered on this platform:
Autoinflammatory Diseases; 23-gene panel - please contact the laboratory for details.
Autoimmune Diseases; 27-gene panel - please contact the laboratory for details.
Primary Immunodeficiencies; 35-gene panel - please contact the laboratory for details.
Amelogenesis Imperfecta; 22-gene panel - please contact the laboratory for details.
Skelexome (perinatal onset skeletal dysplasia panel, including fetal post-mortem); 68-gene panel - please contact the laboratory for details.
Price/turnaround time (Guidance only - please contact the laboratory to discuss your specific requirements):
|Test Level||Test||Target Reporting Time||Cost|
|1||Sequence analysis of current UKGTN-offered gene panels (<100 genes), or a completely bespoke gene list (on consultation with the laboratory)||84 days||Contact laboratory|
|2||Whole exome analysis, complex/very large panels (on consultation with the laboratory)||Contact the laboratory||Contact laboratory|