Our laboratory now has an IRB-approved Research Consent Form for patients that are interested in participating in further studies, should their clinical testing not reveal the etiology of their disorder.  We will no longer require a consent form for clinical testing.  Consent is only necessary, if the family wishes to be a part of possible studies in our laboratory after their clinical testing is completed. 

The purpose of this study is to gather additional data on newly identified genes prior to diagnostic testing and experiment with new technology that may be more efficient or accurate for molecular diagnostics.

When choosing new tests to develop for clinical testing, we choose recently published genes from the literature.  These are often genes associated with disorders that have overlapping features with those that are tested for in our laboratory and serve as good candidate genes for the disorders that we test.  Often there is not a lot of data about these newly published genes.  Thus, it is useful to do a small study on select samples from patients with particular clinical criteria within our laboratory before setting up and implementing diagnostic testing for this new gene.  The more clinical information you provide about your patients, the easier it is for us to include them in appropriate studies. We will, therefore, have the ability to correlate clinical information with genetic information in these patients that will enhance our understanding both of the genes and the disorders in question.  This data will assist in directing physicians about the likelihood of a positive or negative test result in their patient. 

As new technology is developed, it is important to assess their usefulness and application to the diagnostic field.  With the increase in the amount of genetic information being produced and learnt, high throughput methods, both for data generation and data analysis, are necessary in order to provide more comprehensive and cost effective diagnostic tests.  In addition, new technologies can often be used for the identification of mutations that have remained undetected with the current technologies.  It is, therefore, important to constantly re-assess methods of mutation detection used in the diagnostic setting and implement new and improved methods.  DNA samples with consent for research can be analyzed using newer technologies to search for mutations that may not have been detected using current methods, as well as serve as controls to test out new technologies when mutations have been identified.

Our new research consent form is on the homepage of our website and attached below.  Please contact us if you have questions or comments about this process.  


Research Consent Form 36.49 KB