myNewborn - newborn health screening

myNewborn is a genetic screening test that sequences the newborn's genetic material using the whole exome sequencing method (WES). It analyzes 407 genes whose mutations are responsible for genetic and metabolic diseases in newborns. This test determines the risk of more than 390 diseases

(metabolic, hematological, immunological, pulmonary, oncological, muscular, cardiovascular, urogenital, endocrine, autoimmune, neurological, hearing, and other system diseases). The diseases included in this test panel can affect a newborn's health from the very first days of life. Diagnosis is also relevant before symptoms appear, allowing preventive and therapeutic measures to be taken in time to halt disease progression or alleviate symptoms, depending on the type of disease. The whole exome sequencing method analyzes 407 genes, the mutations of which can cause diseases that manifest at a very early age. Early diagnosis allows timely prevention and/or treatment

Recommendation on when to perform the test: a genetic screening test intended for newborns and children.

Sample: oral mucosa swab, blood.

Execution time after reaching the laboratory: 4 weeks.