ONCOLOGY TESTING
Testing on tumors and neoplastic samples for somatic variants. See information on specimen requirements and billing below.
Chromosome analysis is performed to detect clonal structural and numeric abnormalities in acquired neoplasms. These abnormalities include whole chromosome gain and loss and structural abnormalities including deletions, duplications, inversions and translocations.
Indications
- Suspicion of acquired clonal chromosome anomalies associated with tumors, lymphomas, and hematological neoplasms
Methodology
Twenty cells are counted and evaluated for clonal abnormalities of structure and number. Due to the low resolution of chromosome studies, FISH studies are often performed in addition to chromosome analysis to aid in identifying specific abnormalities that may not be discerned by G-banding alone.
Fluorescence in situ hybridization (FISH) detects chromosome aneuploidy and specific genomic copy number changes such as deletions and duplications below the level visible on chromosome analysis. Some submicroscopic deletions/duplications are associated with various forms of neoplasms and tumors. Robust oncology analysis often pairs chromosome analysis with FISH studies.
Specimens send for ERBB2(HER2) FISH analysis have special instructions, please see details in Specimen Requirements section below.
Please see the FISH Probe List for a comprehensive view of all the probes and tests we provide.
Indications
- Suspicion of acquired clonal chromosome anomalies associated with tumors, lymphomas, and hematological neoplasms
Chromosomal microarray (CMA) is a molecular cytogenomic tool for detecting both copy number changes (deletions and duplications).
Methodology
The focused oncology microarray looks for acquired, clonal segmental or whole chromosome arm aberrations in regions of the genome where gains or losses have been known to contribute to the risk of various cancers.
Cancer Types Tested
- Wilm’s tumor: Special attention to losses or homozygosity of 1q, 11p15, 16q, and 17p. Gains of 1q.
- Neuroblastoma: Specially attention to losses or homozygosity of 1p, 3p, and 11q. Gains of 1q, 2p, and 17q. Amplification of MYCN/2p24.3.
- Other tumors and hematological malignancies as requested. Please contact CGL for further information at 303-724-5701.
Limitations
This evaluation is not a scan of the entire genome. Information on other chromosome regions is not reported, as their clinical relevance in oncology has not been well established. Those seeking a copy number analysis across the entire genome should order a standard chromosome microarray on a tissue type without tumor cells.
Billing Details
The targeted oncology microarray is only available with facility billing. The option to bill the patient’s insurance is not currently available for this test.
Chimerism FISH is performed on patients who have received a transplant from an opposite sex donor to identify the proportion of patient and donor cells.
Indications
- Patient and donor of opposite sex