| •Diagnostic testing is appropriate in symptomatic individuals of any age. |
| •Confirming a diagnosis may alter medical management for the individual. |
| •It is medically indicated since early diagnosis allows interventions that reduce morbidity or mortality. |
| •Even in the absence of medical indications, predictive testing can influence life planning decisions. |
| •Molecular genetic testing of an affected family member may be required to determine the disease-causing mutation(s) present in the family. |
| •Genetic testing should be offered to at-risk members of a family in which a germline MEN1 mutation has been identified in an affected relative. Identifying carriers allows reproductive choices. |
| •A DNA test in MEN1 may be offered to children within the first decade because tumors such as insulinoma and pituitary adenomas have developed in some children by the age of 5 years. |
| •Genetic counseling and education should accompany carrier testing because of the potential for personal and social concerns. |
| •Many laboratories will not proceed with predictive testing without proof of informed consent and genetic counseling. |
| •Identification of the specific gene mutation in an affected relative or establishment of linkage within the family should precede predictive testing. |
| •Because predictive testing can have psychological ramifications, careful patient assessment, counseling, and follow-up are important. |
| •Predictive testing of asymptomatic children at risk for an adult-onset or later-onset disorder is strongly discouraged when no medical intervention is available (American Society of Human Genetics/American College of Medical Genetics Policy Statement - 1995) [38]. |
| •If molecular genetic testing is not possible or is not informative, individuals at 50% risk (first-degree relatives of an individual with MEN1 syndrome) should undergo routine biochemical-clinical evaluation. |
| •Currently, a DNA test identifying an individual as a MEN1 mutant gene carrier does not usually lead to immediate medical or surgical treatment, but it suggests precocious and frequent clinical screening. |
