Genetics

CYTOGENETICS - Document of informed consent for genetic testing

For testing oriented genetic diagnosis, is necessary and required that patients know the implications of these tests before implementation, and the best guarantee that this process will be appropriate is the informed consent document.

MOLECULAR BIOLOGY - Method change for the molecular study of the HFE mutation gen, related with hereditary hemochromatosis

Hereditary hemochromatosis (HH) is a genetic disease of autosomal recessive transmission wich causes an alteration in iron metabolism.

CYTOGENETICS–Cytogenetic study of byproducts of miscarriage. Approximately 10-15% of clinically recognized pregnancies end in miscarriage, the majority of which are produced in the first trimester, and 50% of these are associated with chromosomal anomalies.

MOLECULAR BIOLOGY –Phenotype and Genotype of HLA-B27 The presence of the antigen HLA-B27 has been closely associated for more than 30 years with Ankylosing Spondylitis.

CYTOGENETIC - Y chromosome microdeletions

Infertility is a problem that affects 10-20% of couples. In some cases, the cause is microdeletions in the distal portion of chromosome Y.

Cytogenetics - Quantification of BCR-ABL reorganitation

There are some recurring cytogenetic abnormalities hematologic malignant diseases, and the first to be described was the translocation t (9; 22) (q34, q11