Everything you Need to Know About Genetic Testing

Genetic testing in our patients with Inborn Errors of Immunity is becoming more common and this episode will help listeners better understand how to incorporate this into their practice. Sarah Hendrickson, MD, PhD, walks us through who should consider testing, considerations in ordering the testing, the types of testing available and how to think through the results.

Helpful Links
ClinVar - https://www.clinicalgenome.org/
This is a website by the NIH where you can type in any gene and it will list the variants that have been identified and refer you to the papers where they have been published.

Franklin Genoox - https://franklin.genoox.com/clinical-db/home
This is a website where you can look at the gene or protein of interest and look at how the variant might change the protein structure and function and what has been published.

GnomAD - https://gnomad.broadinstitute.org/
This is another site where you can look at a gene of interest and how the variant might affect protein structure and function. It is run by the Broad Institute in Cambridge, MA.

MARRVEL - https://marrvel.org/
This is a website that searches multiple databases for a gene or variant and helps to determine the likelihood that a variant might cause disease.