It is a genetic disorder. Although it is rare, it is the most common genetic disorder among Caucasians and affects 1 in every 7,000 people in Portugal.
Learn moreThe Genetics Laboratory at the Germano de Sousa Center for Laboratory Medicine meets the growing demand in the fields of genetic diagnosis and genomics with high-quality services, ensuring excellence in the care of patients.
It is staffed by a team of highly specialized professionals and equipped with the latest technology necessary to provide an appropriate, rapid, and accurate response—all of which are essential in the era of personalized medicine.
It combines cutting-edge technology with compliance with the latest laws in effect in the field of laboratory genetic diagnostics.
It covers the fields of Cytogenetics/Molecular Cytogenetics, Molecular Genetics, and Genetic Biochemistry, offering a comprehensive range of genetic tests for a wide variety of clinical specialties.
Genetic counseling consultations are available whenever necessary.
If you have any questions, please contact the Genetics Center of
the
Germano de Sousa Group. We will be happy to help.
GENETICS LABORATORY
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EndoPredict
EndoPredict is a genomic test that uses precise molecular analysis of genes relevant to the likelihood of breast cancer recurrence.
It is performed using a device that quantifies the activity of the relevant genes present in the tumor using a very small sample that can be obtained from a previously collected sample, a surgical specimen, or a needle biopsy...
Carrier testing
Genetic compatibility testing (carrier screening) is a genetic test that combines different molecular technologies to determine whether an individual—who does not, a priori, have an increased risk of being a carrier—is a carrier of mutations associated with autosomal recessive or X-linked disorders.
Learn moreUromonitor
UROMONITOR - A reliable, non-invasive solution (performed on a urine sample) validated for the active surveillance of patients with non-muscle-invasive bladder cancer, as well as in the context of initial diagnosis, regardless of the tumor’s stage and grade.
Learn moreSerene Non-Invasive Prenatal Screening
The most comprehensive answer to trisomies 21, 18, and 13; sex chromosome aneuploidies; and microdeletions and microduplications.
Learn moreHarmony® Prenatal Screening
Harmony® Prenatal Screening represents the greatest advance in the field of non-invasive prenatal testing for the screening of the three main trisomies (T21, 18, 13) and aneuploidies related to the sex chromosomes (X and Y). It is performed in a SIMPLE and SAFE manner using a sample of maternal peripheral blood and provides results with a high degree of ACCURACY.
Learn moreMyPharmaGenes
The MyPharmaGenes® PGx test provides useful information for developing a personalized treatment plan for conditions in the fields of psychiatry, pain management, oncology, diabetes, and cardiovascular disease.
The MyPharmaGenes® PGx test uses iPLEX MassArray technology (99% accuracy and sensitivity).
Myasthenia Gravis
Myasthenia gravis (MG) is an autoimmune disease associated with the presence of autoantibodies directed against the acetylcholine receptor (AChRAB) and muscle-specific kinase (MuSK).
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