Germline BRCA1/BRCA2
Methodology
Molecular
Test Description and clinical significance
Genes
BRCA 1/2
Disease:
Personal or family history of breast, ovarian, fallopian tube, or peritoneal cancer or whose ancestry is associated with having harmful BRCA1 and BRCA2 variants, epithelial ovarian cancer, Cowden syndrome, Peutz-Jeghers syndrome, Li-Fraumeni syndrome, or Fanconi anemia.
This test is used to identify individuals with increased risks for hereditary breast and ovarian cancer syndrome. Two different technologies (NGS and Microarray) are combined for a comprehensive diagnostic panel. It detects single-nucleotide variants, deletions, and duplications in the BRCA1 and BRCA2 genes. Generally, this test may be indicated for individuals with a personal or family history of breast cancer, ovarian cancer, fallopian tube cancer , primary peritoneal cancer, metastatic prostate cancer, or pancreatic cancer, Fanconi anemia,AML, childhoood solid tumor.
Specimen Requirements
Collection:
Specimen should contain least 0.5 mL of blood, Previously extracted DNA is acceptable if stored at appropriate temperature (short term at 2–8 C or long term at -20 C) and should be transported on ice. A minimum of 20 µl of DNA with a concentration of at least 5ng/µl by Qubit using Qubit HS dsDNA assay and an OD260/280 ratio of 1.7-1.9 obtained on a spectrophotometer is required
Stability:
96hours/4 to 7 days refrigerated
Unacceptable Conditions:
Specimen submitted is in the incorrect fixative or anticoagulant. Specimen received after the stability date. Gross hemolysis. Frozen specimen. Insufficient specimen. Unlabeled. Left un-refrigerated for an extended period.
Storage & Transport
Blood specimens should be kept at room temperature and preferably received within 96 hours of drawing. Samples that are 4 to 7 days old should be refrigerated
CPT(s)
81162
New York Approved
YES
TAT
7 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.
