The Laboratory of Medical Genetics, founded in 1995, is a reference that is already transforming clinical practice in genetic diagnosis. Some of the most state-of-the-art methodologies include Array CGH, NGS Panels, Clinical Exome (Mendelioma) and Whole Genome Sequencing (WES), the latest generation of genetic mapping.
Since 2020, the Laboratory is located in the CORE building of Joaquim Chaves Saúde, a laboratory reference for unique architecture and infrastructure and the most advanced equipment. Here, daily genetic tests are carried out in different areas, such as screening and prenatal diagnosis, Hematology, Oncology, Neurology, Ophthalmology, Cardiology, Pharmacogenetics, Preventive Medicine, common pathologies and rare diseases. Our geneticists receive samples from national and international hospitals, public and private, as well as from clinics and universities, to investigate causes and inheritance patterns of genetic diseases, in all age groups.
At Joaquim Chaves Saúde, we also offer a consultation with highly qualified professionals in different areas of specialization, in our medical clinics. This consultation is often sought for detection of fetal anomalies, hereditary transmission of genetic conditions, chromosomal alterations, malformations or oncological diseases with familial distribution. Even when pathologies have no cure, the Medical Genetics Laboratory is essential to guide the best therapeutic prescription and, thus, prevent serious damage to the affected organs.