Exome sequencing and the management of neurometabolic disorders” , download article here

The metabolic evaluation of the child with an intellectual developmental disorder: Diagnostic algorithm for identification of treatable causes and new digital resource, download article here.


Seventeen of the 81treatable causes of intellectual disability included in the TIDE-BC protocol can be diagnosed through the analysis of amino acids in plasma. The Biochemical Genetics Laboratory at BC Children’s Hospital routinely measures amino acids in >2000 plasma samples per year to investigate children for these, and related metabolic disorders. At an analysis time of almost 4 hours per sample, the current HPLC method has reached capacity.

In order to increase capacity, TIDE BC team members, Drs. Hilary Vallance and Graham Sinclair are involved in developing an alternative plasma amino acids method utilizing the high specificity of tandem mass spectrometry to increase the efficiency of this testing. Using this technology we will be able to reduce the per sample run time to 30 minutes while simultaneously extending the panel of amino acids measured to > 40.
This technological innovation will increase our capacity for testing while decreasing the overall cost of the testing, greatly improving the efficiency of our investigations for these treatable causes of intellectual disability.