NGS Gene Panel

Panel NGS BRCA1/BRCA2

The study of BRCA1 and BRCA2 gene mutations in cancer patients plays an important role, not just for identifying a predisposition to familial cancer, but also for selection of therapeutic targets. Patients who are carriers of somatic or germline mutations on these genes have been associated with a better prognosis and response to platinum-based therapies.

It has been shown that Poly (ADP Ribosa) Polymerase (PARP) inhibitors. (PARP) are effective in the treatment of high-grade non-mucinous epitelial ovarian cancer son (either fallopian tube cancer or primary peritoneal cancer). in patients who are carriers of mutations of genes BRCA1 and BRCA2.

Sistemas Genómicos offers the simultaneous study of both genes through Next-Generation Sequencing (NGS) of the BRCA1 and BRCA2 targeted panel that studies the coding segment and the adjacent intron (+/- 20 nt) to these genes.

Clinical Application

• Identifying women with ovarian cancer who are carriers of a BRCA1 and BRCA2 mutations to establish the most suitable measures for prevention and monitoring.

AML Geneprofile Panel^®

Acute Myeloid Leukemia (AML) is a heterogeneous disorder characterised by the clonal expansion of myeloid progenitors in the bone marrow and peripheral blood. The disorder arises from a series of recurrent genetic alterations in hematopoietic stem cells with age. Whether or not there are mutations or the expression of specific genes allow us to classify AML and these new markers, this can have an effect on the prognosis for the patients, especially those suffering from AML with a normal karyotype (NK-AML) in the bone marrow.

The NGS gene panel, AML Geneprofile®, is designed to organise 64 genes, 36 amplifications and can detect 12 translocations, 7 deletions and 3 aneusomies or structural abnormalities.

Clinical Application

• AML type classification
• Determination of whether the origin of the tumour is secondary to a myelodysplastic disorder.
• Setting a prognosis for the disease according to the markers detected.
• Treatment aimed at therapeutic targets connected to the molecular markers.

Cancer 170 Panel

This panel is designed to cover 170 genes associated with common solid tumours, enriched and aimed at simultaneously analysing DNA and RNA, and covers a wide range of genes and types of pathology: breast, lung, gastric, bowel, melanoma, metastasis, gastrointestinal, ovarian, endometrial, haematopoietic, brain, bone, prostate, central nervous system and rare tumour of unknown origin.

• In just one process we can assess different types of tumour via DNA and RNA analysis
• Integrated cover of variants related to cancer: efficiency of one single assay using DNA and RNA to evaluate small variants, amplifications, splicing variants and fusions.
• Integrated and optimised work flow: DNA and RNA libraries are prepared in parallel with the integrated work flow after cutting DNA/synthesising cDNA.
• Precise results from low-quality samples: variant detection with 40 ng of DNA/RNA and as low as 5% frequency for the mutated allele from FFPE samples.

This panel includes genes identified in patients with cancer that are associated with a therapy that has been approved by the FDA or with clinical trials being conducted on its effectiveness.

Clinical Applications

• Sporadic tumours for the detection of clinically relevant variants in the tumour diagnosis and prognosis.
• Identification of molecular markers associated with known therapeutic targets
• The search for new molecular markers associated with therapeutic targets.