Genetics

CYTOGENETICS - Genetic markers in the myeloproliferative syndromes classification

Myeloproliferative neoplasms (NMP) are clonal disorders of hematopoietic precursor cells, characterized by the proliferation of myeloid or more lines. Classically, the NMP were subdivided according to whether the Philadelphia chromosome (BCR / ABL1), confirming a chronic myeloid leukemia (CML), or if the patient was BCR / ABL1 negative, was detected using clinical criteria. Currently, the study of mutational status of JAK2, MPL and CALR genes, plays an important role in the classification of different subtypes of NMP.

CYTOGENETICS - Array-CGH

Array-CGH technology detects dose changes (copy number changes or CNV), along the whole genome. The technique is based on the competitive hybridization between a reference DNA and a patient DNA.

MOLECULAR BIOLOGY - Change of method in celiac disease molecular study

Celiac disease is a chronic inflammatory bowel disease that affects from 1 to 3% of the Western population. At the molecular level, is associated with the HLA genes. From December 2013 we incorporated a new equipment that allows us to make a complete study of the two genetic regions associated with celiac disease (HLA-DQA/HLA-DQB). This equipment is designed to work with reverse hybridization technique adapted to a microarray plate, and also allows us to determine if these alleles are in heterozygous or homozygous state.

CYTOGENETICS - New method of noninvasive prenatal screening. Study of fetal aneuploidy in maternal blood

Based on the study of circulating fetal DNA in maternal blood, new techniques have been developed for prenatal aneuploidy screening with high sensitivity and specificity.

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