Molecular Diagnostics > Fact Sheets > Yale Medicine

Tests are typically performed to determine whether or not patients have a gene mutation associated with a specific disease, either as an inherited or an acquired mutation. Inherited diseases can be tested for at the prenatal, newborn and adult stages of life.

For example, a commonly inherited disease iscystic fibrosis(CF). If a newborn is found to have two mutations in the gene associated with CF, the baby is most likely to have the condition. The child can then be treated for the disease, which can prolong his or her life.

Doctors can perform a molecular test of a common inherited hereditary cancer. For example, inbreast cancer, they can investigate forspecific inherited mutations in theBRCA1andBRCA2 genes, which may increase the patient's risk of breast and ovarian cancer.

Acquired gene mutations can be tested for in some cases, such as for chronic myeloid leukemia (CML).A patient can then start therapy as soon as possible.

Tests can also be done to determine whether a person has become resistant to a specific drug and needs to change course in a treatment regimen. For example, an HIVpatientcan be monitored by a quantitative molecular test to determine whether or not the amount of viral loadhas significantly increased, which is a sign of resistance to the treatment. The patients HIV can then be DNA sequenced to determine if a mutation known to be associated with resistance is found.

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Molecular Diagnostics > Fact Sheets > Yale Medicine