Detection of the NOTCH1 gene mutations associated with the presence of cancer

New studies have showing that in human carcinoma like; T-cell acute lymphoblastic leukemia (T-ALL), head and neck squamous cell carcinoma (HNSCC), non-small cell lung cancer (NSCLC) and gliomas, the presence of mutations in NOTCH1 gene represents new molecular-genetic marker important for diagnosis, additional stratification of patients into risk groups, for predicting of the clinical outcome of the disease, and for the selection of adequate therapy.

The material for the detection of mutations in the exons 26, 27 and 34 of NOTCH1 gene is RNA isolated from the peripheral blood/bone marrow of the patients, followed by cDNA synthesis. Methodology used for the detection of these mutations is RT-PCR method, followed by direct sequencing. For analysis, it is necessary to deliver 2 to 5 ml of full venous blood/bone marrow, collected with 3.8% Na-citrate as an anticoagulant. The peripheral blood/bone marrow specimen must be delivered on the same day it was collected. Do not freeze the samples! Submission of samples can be made on every working day from 10-13 h. Also, there is a possibility to send the sample via Express post. Analysis is completed within 10 working days. The result and the receipt are delivered to the home address by registered mail, and can also be picked up in person from 10 am to 4 pm every working day at the Institute.

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