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Examining the genes in the leukemia cells is important because AML can be caused by a buildup of mistakes (also called mutations) in the cell’s genes. Identifying these mistakes helps diagnose the specific subtype of AML and choose treatment options. In addition, the results of those tests can also be used to monitor how well treatment is working
Analyzing of biological fluids especially blood specimen to detect and quantify circulating cancer bio-markers, have been rapidly introduced and represents a promising potency in clinical practice of lung cancer diagnosis
Offers a way to implement testing of multiple genetic aberrations in diagnostic pathology practice, which is necessary for personalized cancer treatment
Preimplemantaion Genetic Diagnosis involves the detection of monogenic disorders, autosomal recessive diseases & common disorders that runs in families, e.g, thalassemia from embryos' single cells. This test is performed with IVF procedure, prior to embryo transfer, before a pregnancy is established. PGD offers at-risk couples the opportunity to select embryos for transfer based on their genetic status. The goal of PGD is to identify abnormal embryos so they will not be transferred, leaving unaffected embryos to be selected for transfer that are more likely to make healthy, disease-free babies.
Mestastatic Colorectal Cancer the 2º cause of death in the world. Development of targeted therapies has increased the survival. The efficacy of these drugs (such Bevacizumab and monoclonal antibodies against EGFR) depends on the use of genetic biomarkers such as KRAS and NRAS.
NIPT test is an advanced prenatal screening test which is offered to pregnant women to estimate the risk that their fetus may be affected with:
Trisomy 21 (Down’s syndrome)
Trisomy 18 (Edwards’ syndrome)
Women with BRCA1 or 2 mutations are at high risk for breast cancer. For BRCA1, a trend of increasing risk has been associated with increasing downstream (3′) location for mutations compared to the upstream (5′) mutations in the gene. For BRCA2, an increased risk of breast cancer has been associated with mutations outside of the ovarian cancer cluster region (OCCR). We perform both Germline and somatic BRCA1/2 mutations to define the subset of patients with ovarian cancer who may benefit from treatment with poly (ADP-ribose) polymerase inhibitors.
Chronic myelogenous leukemia (CML) and Philadelphia chromosome-positive (Ph(+)) acute lymphoblastic leukemia (ALL) are associated with fusion of the BCR and ABL1 genes by chromosome translocation. The chimerical BCR-ABL1 gene encodes different fusion proteins that vary in size, depending on the breakpoint in the BCR region. Different types of fusion genes in CML and Ph(+) ALL are thought to be related to the clinical course and outcome of each patient.