ESR1 single gene test
Methodology
Molecular
Test Description and clinical significance
Genes
ESR1
Disease:
Breast invasive ductal carcinoma, invasive breast carcinoma, colon adenocarcinoma, lung adenocarcinoma, and endometrial endometrioid adenocarcinoma, prostate carcinoma
Molecular test that utilizes NGS technology to detect mutations in ESR1. The estrogen receptor 1 (ESR1) gene encodes an estrogen receptor that regulates cell growth through activation of downstream signaling pathways upon binding of estrogen. ESR1 mutations are rarely observed in primary tumors; however, mutations in the ligand-binding domain of ESR1 have been reported at a higher frequency in ER-positive metastatic breast tumors. This test assesses for somatic mutations in the ligand-binding domain of the ESR1 gene associated with acquired resistance to endocrine therapy (i.e., aromatase inhibitors) in patients with ER-positive metastatic breast cancer.
Specimen Requirements
Collection:
FFPE sections, 5-10 sections are recommended at 4 to 10 micron. A minimum of 20 ?l of each DNA with a concentration of at least 5ng/?l and an OD260/280 ratio of 1.7-1.9 and 2.0-2.1 respectively, obtained on a spectrophotometer is required.
Stability:
FFPE blocks- Indefinitely/ FFPE Slides-4 weeks
Unacceptable Conditions:
Specimen submitted is in the incorrect fixative. Insufficient specimen (less than 10% of tumor). Unlabeled or improperly labeled specimens. Decalcified specimens. Improperly stored DNA or RNA.
Storage & Transport
Store FFPE blocks and slides at room temperature. Genomic DNA must be stored at 2–8°C for several weeks post extraction, then at –15 to –25°C for long term storage
CPT(s)
81479 or 81402
New York Approved
NO
TAT
10 Days
*The CPT codes provided are for informational purposes only and are based on AMA guidelines The billing party is solely responsible for correct CPT coding.
