Treatments
Genetic Counseling
Genetic counseling as defined by NIH is guidance relating to genetic disorders that a specialized healthcare professional (genetic counselor) provides to an individual or family. A genetic counselor might provide information about how a genetic condition could affect an individual or family and interpret genetic tests designed to help estimate the risk of a disease. The genetic counselor conveys information to address the concerns of the individual or family, helps them make an informed decision about their medical situation, and provides psychological counseling to help them adapt to their condition or risk.
Genetic Testing
Genetic testing refers to any test that investigates for possible genetic etiology or gene abnormality at the level of chromosomes, a specific set of genes, methylation studies, and more complex and comprehensive testing including whole genome sequencing.
Long Term Follow Up
Follow up appointments can include periodic physical exams, ordering imaging studies, and ordering bloodwork.