Test Directory

Overview of Technologies

Our focus at Genoptix is to provide quality diagnostic services for hematomalignancies, or cancers of the blood. We understand that accurate diagnosis, treatment, and monitoring are keys to effective patient management.

Our deep level of expertise in this specialty of cancer allows us to continually provide physicians and their patients with the most recent technologies that provide the most reliable test results.


Morphology

Genoptix’s highly trained hematopathologists perform microscopic examinations of blood and bone marrow specimens for evidence of disease or an abnormal process.

While morphology is the oldest of diagnostic technologies, it remains a robust and reliable tool in the diagnosis of blood cancers, especially when performed by an experienced hematopathologist.

Our intelligent choice of cytochemical and immunohistochemical stains based on patients’ clinical history, along with extensive experience in the recognition of unique phenotypic characteristics and cellular architecture in hematopoietic disorders, helps Genoptix establish a diagnosis, set an appropriate testing course, or support findings from flow cytometry or other technologies.

Color photomicrographs in all reports provide the added benefit of a visual connection between descriptive findings and actual images of the patient’s blood and/or bone marrow sample.

With COMPASS, a dedicated Genoptix hematopathologist correlates morphology results with flow cytometry, cytogenetics, FISH, and molecular tests for a patient-specific diagnosis.

Immunohistochemistry: CD20 Confirms Presence of B-cell Infiltrate Special Stain: Widespread Reticulin, Fibrosis

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Multicolor Flow Cytometry

The Genoptix flow cytometry team has over 100 years of cumulative experience in flow cytometry. The team works closely with our hematopathologists and is a key component of providing accurate diagnostic results to doctors and their patients.

Our expert flow team, matched with continual advances in our instrumentation and reagents, offers superior sensitivity to detect and attain better quantitation of small cell subpopulations, which provides more information from smaller patient sample volumes.

Flow cytometry is particularly well-suited for determining levels of minimal residual disease (MRD), and examining nuanced antigenic expression of small cell populations in MDS/MPN (myelodysplastic syndrome/myeloproliferative neoplasms), multiple myeloma (MM), and bi-phenotypic leukemias, which can be critical to resolving diagnosis and providing additional prognostic information.

With COMPASS, a dedicated Genoptix hematopathologist correlates flow results with morphology, cytogenetics, FISH, and molecular tests for a patient-specific diagnosis.

Flow/MRD Sample Report CD38 Flow Diagram

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Cytogenetics

The Genoptix team of highly skilled cytogeneticists works closely with our hematopathologists to detect any chromosomal abnormalities associated with blood cancers.

Cytogenetic analysis of a patient’s karyotype has become a cornerstone in the diagnosis and prognosis of numerous diseases, including but not limited to, acute and chronic leukemias, lymphomas, and multiple myeloma, as well as offering insights into potential therapeutic response.

With COMPASS, a dedicated Genoptix hematopathologist correlates cytogenetic results with morphology, flow cytometry, FISH, and molecular tests for a patient-specific diagnosis.

Normal Male Karyotype Abnormal Male Karyotype: Showing t(9;22)

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FISH (Fluorescence in situ hybridization) Molecular Cytogenetics

The Genoptix cytogenetics team also detects additional chromosomal abnormalities associated with blood cancers through FISH (fluorescence in situ hybridization), also known as molecular cytogenetics.

FISH can provide a number of additional advantages to classic cytogenetics in the detection of chromosomal aberrations. Because FISH has a rapid turnaround time, exceptional sensitivity, and can be performed on samples with either metaphase (dividing) or interphase (nondividing) cells, as well as those with a low mitotic (cell replication) activity as in Chronic Lymphoma Leukemia (CLL), it can be utilized as both confirmation for cytogenetic findings and an independent diagnostic and prognostic tool.

With COMPASS, a dedicated Genoptix hematopathologist correlates FISH results with morphology, flow cytometry, cytogenetics, and molecular tests for a patient-specific diagnosis.

CCND1/IgH FISH: Mantle Cell Lymphoma t(11;14) Multiple Myeloma FISH: IgH Gene Rearrangement

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Molecular Tests

The Genoptix team of molecular biologists works closely with our hematopathologists to perform appropriate molecular tests that are essential components of determining a patient-specific diagnosis.

Polymerase Chain Reaction
Polymerase chain reaction (PCR) begins by establishing a “target sequence” of DNA or extracted RNA. It is completed through repeated cycles of heating and separation of double-stranded DNA. Through repeated cycles, copies of the target DNA or RNA are generated for further analysis, and in some instances, quantitation of the target for determination of minimal residual disease (MRD) and therapeutic monitoring.

Invader Technology®
Invader Technology by Third Wave, is used in a number of our molecular tests. PCR plus Invader Technology increases reproducibility, sensitivity, and specificity of tests. Invader technology is also used in other FDA-cleared molecular tests including those for cystic fibrosis and UGT1A1 for colon cancer.

With COMPASS, a dedicated Genoptix hematopathologist correlates molecular test results with morphology, flow cytometry, cytogenetics, and FISH tests for a patient-specific diagnosis.

Quantitative Nuclease Protection Assay (qNPATM)
qNPA technology is a semi-automated assay that allows researchers to accurately measure gene expression levels of mRNA in formalin fixed and paraffin embedded tissues.

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Circulating Tumor Cells

Genoptix uses the FDA-cleared CellSearchTM Circulating Tumor Cell (CTC) Test for metastatic breast, prostate, and colorectal cancers. The test is an aid in monitoring the therapy of patients with these metastatic cancers. CTC testing is an adjunct to radiology in metastatic breast cancer and to prostate-specific antigen (PSA) testing in metastatic prostate cancer.

CTCs are extremely rare in healthy individuals or those with nonmalignant disease. In contrast, patients with metastatic carcinomas have demonstrated variable CTCs; most notably in metastatic cancers of the breast, prostate, colon, and rectum.

The CellSearch Circulating Tumor Cell Test is intended for the enumeration of CTCs of epithelial origin (CD45-, EpCAM+ and cytokeratin 8 and 18+, and/or cytokeratin 19+) in the whole blood of metastatic breast, prostate, colon, and rectum cancer patients.

CTC Graph: Progression-Free Survival

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Invader Technology® is a registered trademark of the Third Wave Technologies, Inc.
CellSearchTM is a trademark of Veridex, LLC.
qNPATM is a trademark of High Throughput Genomics, Inc.
NexCourseTM is a trademark of Genoptix, Inc.