We welcome requests from clinicians and research scientists interested in connecting function and rare genetic variants.
We encourage you to contribute a gene report for inclusion in our ongoing functional studies and development of the CFERV Database.
Prior to initiation of our studies you will need to consent first with Jenifer, via email below.
To make a request, please contact Scott Myer. In your request please include your contact information and a copy of a de-identified genetics report, which we have IRB approval to receive. If you do not have the genetics report, please provide the following (an example):
| Gene name: | GRIN2A |
| Protein change | p.Arg1318Trp |
| cDNA change: | c.3952C>T |
| RefSeq: | NM_000833.3 |
We use this information to design cDNA constructs for use in in vitro studies to investigate the functional and biochemical properties of the gene variant. Upon completion of our studies, we can prepare a report for your attending clinical representative if requested to do so. Functional results, however, will also be posted on our database page.
This service is performed at no charge for all variants selected by our advisory board for further study. CFERV is a non-CLIA laboratory.