Medical Genetics is a specialty dedicated to the clinical evaluation of patients. It includes laboratory diagnostic exams (such as chromosomal, metabolic, or molecular studies), and the research of causes and patterns of genetic diseases.
Genetic diseases represent an important cause of human morbidity and mortality and can branch out to every area of Medicine. It is estimated that 6 out of 10 people, up to the age of 60, will have a disease of genetic origin, including mutations or interactions between several genes. Medical Genetics also encompasses other specialties such as Obstetrics, Pediatrics, Internal Medicine and Oncology.
Useful for:
Medical Genetics is the specialty dedicated to the clinical evaluation of patients associated with the performance of genetic tests for laboratory diagnosis – chromosomal, metabolic, and molecular studies, among others –, and with the research of causes and patterns of hereditary genetic diseases, at all ages.
Genetic diseases cover all areas of medicine and represent an important cause of morbidity and mortality. It is estimated that 6 out of 10 people, up to the age of 60, have a disease of genetic origin: mutation, interaction of several genes and/or the influence of the environment. Medical Genetics can be articulated with other specialties such as Obstetrics, Paediatrics, Internal Medicine and Oncology.
Common cases where genetic testing may be required:
- Pregnant women, when fetal anomalies are detected
- Couples who have lost a child with a congenital or hereditary anomaly, or with a history of recurrent miscarriages
- Couples who may pass on a genetic condition to their children
- Children with congenital disorders, learning disabilities, autism spectrum disorder, or malformations
- Children or adults with chromosomal disorders or hereditary conditions
- Individuals with a family history of a known genetic condition, or a common condition in the family, such as oncological diseases with a genetic component• Pregnant women, if foetal ultrasound changes are detected;
Technological and methodological precision are essential to obtain the best results in the treatment of genetic diseases. Joaquim Chaves Saúde is a national reference, having a Medical Genetics service with a dedicated Medical Genetics laboratory equipped with state-of-the-art technology, and operated by highly qualified researchers and professionals.
We are prepared to carry out the most robust genetic tests, so that you can count on a personalised, effective, quick, and safe treatment.
The Medical Genetics service also offers Medical Genetics consultation and genetic counselling for all situations that require it.
