Cancer Testing

SNAPSHOT Cancer Genotyping (NGS): Solid tumor and heme versions available. Tumor development and progression rely on the active involvement of a limited set of signaling pathways; defining the genomic signatures of different tumor types has led to the development of a new generation of gene-targeted drugs. In our laboratory, we have developed an assay which identifies these genomic signatures by detecting mutations in over 100 commonly mutated areas in cancer. The results allow for enhanced molecular sub-classification of tumors, which facilitates the selection of appropriate gene-targeted drugs and enables clinicians to identify suitable clinical trials for their patients. The Snapshot Cancer Genotyping assay is clinically relevant for a wide variety of cancers including lung, colon, breast, brain, pancreas, thyroid, skin, leukemia and more.

Fusion Assays (NGS): Solid tumor, heme and sarcoma versions available. Chromosomal translocations commonly observed in cancer can be identified using high-throughput targeted RNA sequencing (RNA-Seq). Fusion assays developed by the CID use AMP (Anchored Multiplex PCR) technology, which identifies known and novel gene fusions with specific identification of transcript fusion breakpoints and their partners. CID fusion assays provide comprehensive results of actionable translocations, which can be used alongside clinical and pathologic information for diagnostic, prognostic and treatment decisions.

FISH: Fluorescence in situ Hybridization (FISH) detects a variety of chromosomal aberrations in cancer, including genes that have moved (translocations), duplicated genes (amplifications) and missing genes (deletions). Our laboratory offers a wide selection of FISH assays for various cancers types, including lung, colon, brain and soft tissue. The FISH tests that we offer are ALK, ROS, RET, EGFR, MET, PDGFRA, FGFR1, HER2, EWSR1, CHOP, SYT, FKHR, 1p19q, MYC, KRAS and PIK3CA.

Microsatellite Instability & MLH1 Promoter Methylation: Microsatellite instability or MSI can occur due to defects in DNA mismatch repair proteins, typically leading to sporadic tumorigenesis in colorectal or endometrial cancers. Subsequent testing for MLH1 promoter methylation status aids in ruling out hereditary nonpolyposis colorectal cancer (HNPCC, or Lynch syndrome). In our laboratory, MSI analysis is performed via molecular and immunohistochemistry techniques.

MGMT Promoter Methylation: The promoter of MGMT, which is a DNA repair gene, can sometimes be methylated or silenced, effecting tumorigenesis. In patients with glioblastoma who are treated with alkylating agents, MGMT promoter methylation has been associated with longer survival. Therefore, determining MGMT methylation status can provide valuable prognostic information and help guide the course of treatment.

Non-Cancer Testing

Microarray / aCGH: aCGH (array-based comparative genomic hybridization), a type of chromosomal microarray, is performed to detect gains or losses at the chromosome level, aiding in the diagnosis of many genetic conditions including unexplained developmental delay/intellectual disability (DD/ID), autism spectrum disorders (ASD), multiple congenital anomalies (MCA), Prader-Willi syndrome and Angelman syndrome. The microarray used at the CID has been validated for the detection of copy number variations (CNVs) and uniparental disomy (UPD) to guide patient diagnosis.

Hemochromatosis: The CID’s hemochromatosis panel tests for the most commonly associated mutations within the genes related to hereditary hemochromatosis. A correlation of clinical and genetic laboratory findings is required to determine a diagnosis of hereditary hemochromatosis. Testing is recommended for close family members of individuals diagnosed with the condition.

Chimerism Analysis: Our laboratory uses a microsatellite assay to determine the percentage of donor and/or recipient cells present in the peripheral blood or bone marrow of a patient subsequent to allogeneic bone marrow or stem cell transplant. After transplant, the relative amount of DNA that is donor versus recipient is quantified and followed over time with subsequent patient samples to provide prognostic information.


For Technical Questions: 617-643-2716

For Billing, Specimen Submission, and Testing Status Questions: 617-724-1285