Medical Genetics Laboratory

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.

Medical Genetics Laboratory

With state-of-art technology, we achieve the most accurate diagnosis and the best treatments for hereditary diseases.

Medical Genetics
Medical Genetics Clinic

Joaquim Chaves Saúde is at the forefront of Medical Genetics, with a consolidated and recognized position in Portugal.

In our laboratory, we have access to the latest technologies and a highly specialized team of geneticists, prepared to carry out the most challenging tests. Count on Joaquim Chaves Saúde to obtain a high-precision, quick and safe diagnosis in any clinical condition of a genetic nature.


The Medical Genetics Laboratory offers the following services.

  • Biochemical Screening

  • Non-Invasive Prenatal Tests

  • Rapid Diagnosis of Aneuploidies

  • Fetal Karyotype in Amniotic Fluid or Chorionic Villus Biopsy

  • Prenatal Array-CGH

  • Determination of RhD Group in Maternal Plasma

  • Determination of Fetal Sex in Maternal Plasma

  • Molecular Studies

Analytical Areas

Find out which analytical areas are available in our Laboratories.

Looking for information about an analysis?

Find out how to prepare and details before scheduling your analysis.

Laboratório de Genética Médica

  • Schedule
    • Weekdays: 07h00 to 19h00
    • Saturday: 07h00 to 13h00
    • Sundays and Public Holidays: Closed
  • Contacts
    214 124 300*
  • Address
    Rua Aníbal Bettencourt, Edifício CORE, nº 3

If you share your location, we can show you the nearest Healthcare Unit and how far it is from you.

Dr. Joaquim Chaves, Laboratório de Análises Clínicas (Genética Médica); Nº de registo ERS: E155303.

Dr. Joaquim Chaves, Laboratório de Análises Clínicas, S.A.; Nº de registo ERS: 13690 de 2006-11-13; NIPC: 500753636; Capital Social: €500.000,00; Sede Social: Rua Aníbal Bettencourt, 3, 2790-225 Carnaxide.