Table 1.
GeneScreen Conditions and Genes
| Condition | Gene |
|---|---|
| Cancer risk syndromes: | |
|
| |
| Familial adenomatous polyposis (FAP) | APC |
| Hereditary breast and ovarian cancer syndrome (HBOC) | BRCA1, BRCA2 |
| Lynch syndrome | MLH1, MSH2, MSH6, PMS2 |
| Multiple endocrine neoplasia, type 2 (MEN2) | RET |
| MUTYH-associated polyposis (MAP) | MUTYH |
|
| |
| Connective tissue and heart disease: | |
|
| |
| Marfan syndrome | FBN1 |
|
| |
| Heart rhythm problems: | |
|
| |
| Long QT syndrome | KCNQ1, KCNH2, SCN5A |
|
| |
| Heart disease: | |
|
| |
| Familial hypercholesterolemia (FH) | LDLR |
|
| |
| Lung disease: | |
|
| |
| Alpha-1-antitrypsin deficiency | SERPINA1 |
|
| |
| Liver disease: | |
|
| |
| Hereditary hemochromatosis | HFE |
|
| |
| Harmful reaction to anesthesia during surgery: | |
|
| |
| Malignant hyperthermia | RYR1 |