Request Analysis

We welcome requests from patients, families of patients, clinicians, research scientists, and others 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.

To make a request, please contact us at cferv@emory.edu.  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 prepare a comprehensive de-identified report that is made available to the requesting party.  Results will also be included in our database (under construction).

This service is performed at no charge for all variants selected by our advisory board for further study. CFERV is a non-CLIA laboratory.