Test Method

Molecular

CPT Codes

81479


Test Description

Abnormalities in PIK3CA have been reported in approximately 30% of patients with breast cancer. Most of the reported mutations are gain of function. In addition to mutations, PIK3CA gene amplification has been reported in 10% of breast cancers. Based on our database more than 126 different mutations can be seen in PIK3CA gene when NGS is used for testing. Comprehensive PIK3CA mutation profiling is provided as a part of Breast Cancer profiling. The Breast Cancer Molecular profile includes mutations analysis and copy number variation testing of 40 different genes. In addition tumor mutation burden (TMB) and microsatellite instability (MSI) testing results are also reported with this profile.

Specimen Requirements

  • Bone marrow aspirate: 1-2 mL in EDTA tube (purple top) preferred; ACD (yellow top) acceptable
  • Peripheral blood: 5-10 mL in EDTA tube (purple top) preferred; ACD (yellow top) acceptable
  • Fresh Tissue: Minimum of 250 mg tissue in RPMI transport media
  • Formalin-Fixed Paraffin-Embedded Tissue: 1 H&E slide and 6-8 unstained slides, 5-7 microns of BM clot or tissue fixed with 10% NBF fixative. Please circle tumor for microdissection. alternatively, the FFPE clock of the BM clot can be sent for sectioning in our lab

Storage & Transport

Ship specimen the same day whenever possible, with refrigerated (not frozen) cold pack.

Label all tubes with at least two unique patient identifiers. Slides require one patient identifier. Identifiers include name, DOB, specimen ID# or medical record#.

Turnaround time

5 - 7 days

Level of Service

Global