PRO TECHNOLOGY

 WholEX pro kit is designed to target the coding regions of more than 22,000 of the human genome (>99% of protein coding genes). Mitochondrial genes (as described in MitoMap) are also optionally covered and can be included in the analysis as needed. The total target size of WholEX pro is 40 Mb, and the sequencing is optimized for Nanopore's Next Generation Sequencing (NGS) platforms. The complete table of target genes can be accessible upon request. 

 A complete report including SNVs and CNVs with ACMG classification for variant interpretation is given per each sample. Specific links for wider yet complete classification of detected variants are also provided, together with quality metrics per each sample in the run.  

 ClinEX pro kit is designed to detect genetic factors responsible of disease conditions not attributable to known pathologies, genetically heterogeneous diseases, and complex syndromic pictures. The kit targets more than 10,000 genes described in OMIM as related to known pathologies, plus ~130 hotspots, SNVs, deep intronic regions with a correlation to known hereditary diseases. Mitochondrial genes (as described in MitoMap) are also optionally covered and can be included in the analysis as needed. The total target size of ClinEX pro is 19.5 Mb and is optimized for Oxford Nanopore Technologies’ Next Generation Sequencing (NGS) platforms. The complete table of target genes can be accessible upon request. 

HEMATO pro kit dedicated the analysis of complex genomic variants associated with Lymphoid and Myeloid Diseases. HEMATO pro is a kit for the analysis of 137 relevant genes through a molecular protocol based on Next Generation Sequencing (NGS) technologies. The kit is validated for germline analysis (SNPs, indels,CNVs)of DNA extracted from blood or body tissues (fresh,frozen, FFPE, FNA)samples. HEMATO pro kit contains all reagents required for the preparation of the capture of specifically designed probes and for the NGS analysis. 

 HEVA pro is a CE-IVD kit for the identification of mutations in genes involved in Breast and Ovary cancer, familial adenomatous polyposis (FAP), and hereditary nonpolyposis colorectal cancer (HNPCC). HEVA pro allows to detect variants linked to a defect in homologous recombination deficiency (HRD) mechanism. Consequences of HRD defects causes error-prone DNA repair pathways, resulting in increased genomic instability which may be responsible for susceptibility to poly-(ADP)-ribose polymerase (PARPis) inhibitors. HEVA pro is a kit for the analysis of 50 genes using Oxford Nanopore Technologies' Next Generation Sequencing (NGS) platforms. The kit is validated for germline and somatic analysis (SNVs, CNVs) of DNA extracted from blood samples and cancer tissues (fresh, frozen or FFPE) 

HRD pro is the kit for the identification of mutations in genes related to the Homologous recombination and repair (HRR) pathway. HRR deficiency (HRD) is involved in the tumorigenesis and progression of cancer : several studies demonstrated that HRD score is a biomarker of sensitivity to platinum chemotherapy drugs. HRD pro is a kit for the analysis of 23 genes through a molecular protocol based on Next Generation Sequencing (NGS) technologies. The kit is validated for germline and somatic analysis (SNPs, indels, CNVs) of DNA extracted from blood or body tissues(fresh,frozen, FFPE, FNA)samples. HRD pro kit contains all reagents required for the preparation of the capture of specifically designed probes and for the NGS analysis. For the calculation of the HRD Score it is necessary to analyze two samples per patient: one germline and one somatic. 

 PID pro is a kit for the identification of mutations in genes related to Primary Immunodeficiency Disorders(PIDs). PIDs are a diverse group of genetically determined disorders affecting the immune system. PIDs exhibit a variety of symptoms depending on the part of the immune system thatis affected. 5.2% of PIDs reported in the European Society for Immunodeficiency (ESID) registry are caused by deficiency of the complement system, a fundamental part of the innate immune system. In severe PIDs, early diagnosis can prevent complications from infections and allowsforreferral to targeted treatment. Neonatal Screening specifically represents one of the most effective tools for early diagnosis that can lead to an improvement in the prognosis and outcomes of the disease. 

 RASPO pro is a kit for the identification of mutations in genes related to Neurofibromatosis and Rasopathies. Rasopathies and Neurofibromatosis are characterized by high heterogeneity: the dysregulation of the RAS-MAPK pathway can be determined not only by germline mutations of the RAS gene, but also by mutationsin genesthat regulate RAS activity (PTPN11, SOS1, SHOC2, NF1 e SPRED1), downstream signal transduction (RAF1, BRAF, MEK1 e MEK2) o the activity of receptors(CBL). RASPO pro is a kit for the analysis of 29 genesthrough a molecular protocol based on Next Generation Sequencing (NGS) technology. The kit is validated for the germline analysis (SNPs, indels, CNVs) of DNA samples extracted from blood or tissues. RASPO pro kit contains all the reagents needed for the preparation and capture of specific probes designed for sequencing. 

 PANCANCER pro is a novel NGS medical device for the molecular profiling of the variants involved in onset and progression of solid tumors. PANCANCER pro is a kit for the analysis of 95 genes related to several solid tumors, through a molecular protocol based on NGS technologies. The kit is validated for germline and somatic analysis (SNPs, indels, CNVs) of DNA extracted from blood or body tissues samples, fresh frozen or FFPE. 

PANCANCER pro kit contains all reagents required for the preparation of the capture of specifically designed probes and for the NGS analysis. 

 CARDIO pro is a kit for the genetic characterization of familial cardiovascular diseases using Next Generation Sequencing technologies. 

Following the latest international recommendations and guidelines, the kit allows the analysis of more than 200 genes known to be related to hereditary cardiomyopathies, rare heart diseases and hereditary aneurysmal diseases.