SymGene Focus – NGS Breast Cancer Panel

Synonyms

NGS; Breast cancer NGS; Next Generation Sequencing for breast carcinoma; Breast tumor profiling; Invasive ductal breast cancer; Invasive lobular breast cancer

  • Tech Only CPT
  • Tech Pro CPT 81445, 88381, G0452
  • PowerPath Code P-NGS001
  • Schedule Monday, Thursday (Variable)
  • Turn Around Time 7-10 days
  • Disease State Breast Cancer, Metastatic Cancers
  • Methodology Next Generation Sequencing

Organs

Breast

Specimen Requirements

Formalin-fixed, paraffin-embedded tissue blocks; fixed in 10% neutral-buffered formalin for at least 6 hours, and not more than 48 hours. Tissue should be prepared in sections between 4 and 6 microns thick.Cell blocks and cytospins made from FNA (fine needle aspirates). Cytopathology ThinPrep slides with morphologic correlation. EDTA decal specimens are accepted.

Diagnostic Utility

NGS_Breast-gene panel is comprised oncogenes and tumor suppressor genes with compelling clinical and biological evidences as biomarkers to predict responses to targeted therapies. In addition, genetic profiling of these genes is useful for accessing prognosis and guiding treatment of individuals with advanced cancer who have exhausted standard treatment options. This NGS panel is designed to detect small mutations, splicing mutations in/flanking all coding exons, and genomic amplification and homozygous loss for each gene in the panel. The genes in this panel include: AKT1, BRCA1, BRCA2, CDKN2A, ERBB2, ESR1, PIK3CA, PTEN.

Clinical Significance

Somatic mutations have been identified in cancer-related genes for both solid tumors and hematologic disorders. These mutations are biomarkers with diagnostic, therapeutic, and prognostic values. Next Generation Sequencing (NGS) technology is creating new paradigms for cancer patient management. Multiple genes and regions could be screened and evaluated simultaneously to determine the personalized tumor profile. This mutation profile is useful to predict the prognosis and to determine the treatment strategy for cancer patients, either at initial diagnosis or with refractory diseases.

Required Patient Info

Clinical indication, copy of pathology report, and specimen source is required for the assay.

Storage and Transportation

Room temperature or refrigerated. Ship in cooled container during summer months.

Cause for Rejection

Tissue not verified for the presence of tumor and specimens fixed in fixatives other than formalin are not acceptable. Samples <10% tumor burden will not be tested, as false negative results cannot be ruled out. Surgical pathology report should be included. Only specimens decalcified in EDTA will be accepted.

Retention

2 years - raw data and DNA. 10 years FFPE

Comments

Clinical indication, copy of pathology report, and specimen source is required for the assay.

Vendor

LDT