CEN4GEN Breast cancer: Extended Sequencing Panel
Test Code: 949701
Turnaround time: 3 to 4 weeks
The test is indicated for:
- Individuals with a clinical or suspected diagnosis of an inherited cancer syndrome based on personal or family history of breast cancer.
ACVR1B, AKT1, ATM, BAP1, BRCA1, BRCA2, CBFB, CDH1, CDKN2A, EGFR, EP300, ERBB2, ERBB3, ESR1, EXOC2, EXT2, FBX032, FGFR1, FGFR2, GATA3, IRAK4, ITCH, KMT2C, MAP2K4, MAP3K1, MDM2, MUC16, MYC, NCOR1, NEK2, PBRM1, PCGF2, PIK3CA, PIK3R1, PPM1L, PTEN, PTGFR, RB1, RET, SEPT9, TP53, TRAF5, WEE1, ZBED4, ZNF226
Next Generation Sequencing: In-solution hybridization of the regions encompassing full exonic gene sequences is performed on the patient’s genomic DNA. Direct sequencing of the captured regions is performed using next generation sequencing (NGS). The patient’s gene sequences are then compared to a standard reference sequence. All sequence variants are evaluated using current scientific data to identify pathogenic, likely pathogenic variants, variants of unknown significance (VOUS) and carrier status. Benign and likely benign variants are identified and classified using the latest published, scientific data are not listed in the report. Variants of unknown significance (VOUS) that are either synonymous or outside coding regions are classified as likely benign.
Next Generation Sequencing: Clinical Sensitivity: Pathogenic variants in regions other than the targeted area, including the promoter region, some mutations in the introns and other regulatory element mutations, cannot be detected by this analysis. Large deletions/duplications will not be detected by this analysis. Results of molecular analysis should be interpreted in the context of the patient’s clinical/biochemical phenotype.
Analytical Sensitivity: ~99%.
Submit only 1 of the following specimen types
Type: Whole Blood
In EDTA (purple top) or ACD (yellow top) tube: 5 ml
Specimen Collection and Shipping: Ship sample at room temperature with overnight delivery.
Type: Saliva Specimen
Requirements: Oragene™ kit (available from CEN4GEN)
Specimen Collection and Shipping: Store sample at room temperature. Ship sample within 5 days of collection at room temperature with overnight delivery.