The identification of chromosome abnormalities is done with a molecular biology approach for a faster diagnosis and answer to patients.
MLPA (Multiplex Ligation-dependent Probe Amplification) is a multiplex PCR method detecting abnormal copy numbers of up to 50 different genomic DNA or RNA sequences, which is able to distinguish sequences differing in only one nucleotide.
The QF-PCR (Quantitative Fluorescence PCR) uses fluorescent labelled primers of STR markers that are analyzed after fragment length separation in capillary gel electrophoresis.
BRCA1 and BRCA2 are tumor suppressor genes and they are composed of 23 and 27 exons respectively. The mutations observed are not localized in hotspots, but are distributed throughout the coding sequence. The kit B-Pure EasySeq has been developed to facilitate the analysis of sequencing for BRCA 1 and 2 mutations detection.
SensiScreen® CE IVD are real-time PCR based assays for somatic mutation detection in cancer patients. SensiScreen® assays combine ultra high sensitivity with multiplexing capabilities, speed, ease-of-use and little hands-on-time. Important features of SensiScreen® assays are the implementation of PentaBase’s proprietary DNA analogue platform technology and the inclusion of baseblockers that make SensiScreen® assays superior to most current somatic mutation tests with regard to sensitivity and specificity.