We provide comprehensive services including review of records, consultation with medical specialists, genetic testing and analysis, case management, and access to research studies.
- Whole Exome and Whole Genome Sequencing
Genetic sequencing can be a valuable tool for patients with undiagnosed and rare diseases and disorders. Searching for individual genes one at a time may not identify the cause of a disease and can be very expensive. We provide access to "whole exome" and "whole genome" sequencing, which enables us to examine all of your genetic information. We work with your insurance to preauthorize all testing in the program. We also have research programs available that may cover the cost of testing for some patients.
- Personalized Case Management
Our case management team includes a physician, coordinator, genetic counselor, social worker, and nurse practitioner who will work with you and your family to meet your needs. The coordinator will contact you and your referring doctor to arrange for the transfer of medical records to be reviewed before your first visit to determine the specialty consultations and tests you may need. Our experienced genetic counselor will facilitate all of the genetic testing and networking with patient organizations when genetic diagnoses are made. Each team member has specialized skills that promote patient-centered care and ensure effective and coordinated communication.
- Referrals to Specialists and Research Studies
Once we have achieved a diagnosis for you, we'll link you with the specialists you need. If you have a rare disease and there is no established standard of care for it, we can refer you to our investigators for further study, all here in the same medical center. And if we are unable to make a diagnosis quickly, we will keep searching and do whatever studies are necessary, including laboratory-based studies to identify your undiagnosed disorder.