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Appointments and Specialities

At Joaquim Chaves Saúde (JCS) Medical Units you’ll find the Medical Genetics specialty. This area evaluates patients from a clinical perspective by performing exams for laboratory diagnosis (chromosomal, metabolic and molecular studies), searching for causes and heritage patterns for genetic diseases, in all age groups.

Genetic diseases cover all areas of medicine and are a relevant cause of human morbidity and mortality. It is estimated that 6 out of 10 people, until the age of 60, will have a genetic disease: mutation, interaction of various genes and/or environmental influenced. Medical Genetics intersects with other specialties, such as Obstetrics, Paediatrics, Internal Medicine and Oncology, amongst others, interacting with them in diagnosis research.

Usually, this appointment is scheduled for clarification and genetic advice concerning:

  • Pregnant women, when foetal anomalies are detected

  • Couples who lost a child due to congenital or hereditary anomaly or with a history of recurrent abortion

  • Couples who may pass on to their children a genetic condition

  • Children with congenital changes, learning deficit or malformations

  • Children or adults with chromosomal changes or hereditary conditions

  • People with a family history of known genetic condition or a frequent genetic condition in the family, such as oncologic diseases with a family component

At JCS units, you can access the following areas, within Medical Genetics:

Medical appointments:

  • Cardiogenetics

  • Hereditary dyslipidemias

  • Cardiovascular prevention

  • Family risk of cardiovascular diseases and sudden death syndrome

  • Family risk of hereditary neoplasia

  • Predictive medicine for neurological diseases

  • Rare diseases, congenital anomalies and genetic syndromes

  • Behaviour disorders and learning difficulties

  • Fetal losses

  • Prenatal diagnosis


Medical Genetics Appointment

Oncological Risk Appointment

Health Units

Clínica Cirúrgica de Carcavelos

Clínica de Miraflores


Inês Carvalho

Isabel Gaspar

Rui Gonçalves

Other Specialties