GENETIC TESTING

Genetics Center

Punta Pacifica Center for Genetics: The genetic alterations are a major cause of infertility and sterility and may be responsible for birth defects that are observed in newborns. Among these, chromosomal alterations that are responsible for 2.5% of child mortality, while these alterations are present in more than 50% of spontaneous abortions in the first quarter.

For this reason, the Laboratory of Genetics performed a chromosomal analysis or karyotype when we suspect that the sterility and infertility can have this origin. The chromosomal analysis has provided a basic knowledge of the genetic changes responsible for the chromosomopathy and, in the case of cancer, processes that occur during malignant transformation of tumor cells.

In the case of chromosomopathy, these studies have been essential in proper diagnosis and early detection in the amniotic fluid is part of the clinical routine.

During the recent decades there have been a high number of recurrent chromosomal abnormalities described, frequently associated with particular tumor subtypes.

In addition, these cytogenetic aberrations have helped to establish in many cases the prognosis of the disease and some even indicate specific treatments. Therefore, many therapeutic decisions are based on these genetic findings.

We can help and advise on any of the following areas of specialty in our Genetics Center, read more ...

Conventional cytogenetics
Fluorescent In Situ Hybridization (FISH)
Probes Fluorescent In Situ Hybridization
Prenatal diagnosis
Preimplantation genetic diagnosis
Embryo biopsy
Cordocentesis
Chorionic villus biopsy
Chromosome studies of abortion material
Chromosomal analysis in peripheral blood
Bone marrow study
Sperm chromosome study
Genetic counseling

New genetic tests:

Y Chromosome microdeletions by PCR
Analysis of the Human Papilloma Virus PCR-Clinical Array ®
Genetic Study for Breast Cancer
Toxoplasmosis
Cytomegalovirus
Rubella
Parvovirus
Sickle Cell Anemia
B-thalassemia
Fragile X
Factor II
Factor V
MTHR