Tests by Disease State
The sole focus at Genoptix is to provide comprehensive and quality diagnostic services for all disease states in the realm of hematomalignancies (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 provide physicians and their patients with information that paints a complete clinical picture for physicians to best manage their patients.
Solid Tumor: Lung Cancer Colon Cancer
Leukemia
Morphology
Preparation of blood smears and/or bone marrow core/clot and smears for staining and identification of number and morphology of cells. Utilizes cytochemistry and immunhistochemistry (up to 30 stains and/or antibodies) including iron and reticulin stains.
Flow Cytometry TestsIntelligent Flow ProfileFlow cytometric phenotyping for hematologic malignancies. Utilizes rational marker selection for efficient flow analysis of up to 43 antibodies.
CLL Diagnostic/Prognostic Profile Includes identification of leukemic B-cells by establishing clonality and assessing prognostic indicators. Diagnostic confirmation of suspected CLL and prognostic insight for tumor aggressiveness and clinical behavior.
CLL Monitoring/Minimal Residual Disease (MRD) Profile Detects the presence of minimal residual disease (down to .01%) post-treatment for CLL using the international standardized approach. Assesses effectiveness of treatment and provides prognostic information for Progression Free Survival (PFS) and Overall Survival (OS).
Paroxysmal Nocturnal Hemoglobinuria (PNH) Evaluation Measurement of GPI linkage and determination of reduction or loss of specific antigens, monocytes, granulocytes, and lymphocytes. Immunophenotyping specifically for suspected PNH.
Cytogenetics/FISHCytogenetics with Reflex to Fluorescence in situ Hybridization (FISH) Metaphase analysis of chromosomal abnormalities through traditional banding identification and further reflex to interphase FISH for chromosome region specific labeling as needed.
| Normal female karyotype | Abnormal karyotype reveals Monosomy 7 |
Cytogenetics - Karyotyping Only Traditional G-banding for metaphase analysis. Detection of chromosomal gains and/or losses, as well as deletions, inversions or translocations specific to hematopoietic malignancies.
Fluorescence in situ Hybridization (FISH) Gene specific targeting of chromosomal abnormalities in leukemias and myeloid disorders. Profiles available for CLL, MM, MDS, MPD, AML, and ALL as well as individual probes for specific subsets of lymphomas and leukemias, myeloproliferative neoplasms, and bone marrow transplantation.
Molecular Testsbcr/abl t(9;22) Quantitative GenoTRACE® Assay for CML Real-Time PCR for detection of t(9;22) and quantitation in CML. Offers exceptional sensitivity (1:10,000 cells) for serial monitoring of residual disease and molecular response to Gleevec® and other therapeutics.
T-Cell and B-Cell Clonality Asessment Identification of clonal T- and B-cell populations highly suggestive of T- and B-cell malignancies. Lineage determination of leukemias and lymphomas. Detects clonatity that is highly suggestive of malignancy (99% of B-cell malignancies and 94% of T-cell malignancies compared to Southern Blot Analysis). Useful for detecting residual disease or monitoring disease recurrence.
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Lymphoma
Morphology
Preparation of blood smears and/or bone marrow core/clot and smears for staining and identification of number and morphology of cells. Utilizes cytochemistry and immunhistochemistry (up to 30 stains and/or antibodies) including iron and reticulin stains.
Flow Cytometry TestsIntelligent Flow Profile Flow cytometric phenotyping for hematologic malignancies. Utilizes rational marker selection for efficient flow analysis of up to 43 antibodies.
Cytogenetic/FISH
Cytogenetics with Reflex to Fluorescence in situ Hybridization (FISH)
Metaphase analysis of chromosomal abnormalities through traditional banding identification and further reflex to interphase FISH for chromosome region specific labeling as needed
| Normal female karyotype | Abnormal female karyotype showing deletion of 7q |
Cytogenetics - Karyotyping Only Traditional G-banding for metaphase analysis. Detection of chromosomal gains and/or losses, as well as deletions, inversions or translocations specific to hematopoietic malignancies.
Fluorescence in situ Hybridization (FISH) Gene specific targeting of chromosomal abnormalities in leukemias and myeloid disorders. Profiles available for CLL, MM, MDS, MPD, AML, and ALL as well as individual probes for specific subsets of lymphomas and leukemias, myeloproliferative neoplasms, and bone marrow transplantation.
Molecular Tests
T-Cell and B-Cell Clonality Assesment
Identification of clonal T- and B-cell populations highly suggestive of T- and B-cell malignancies. Lineage determination of leukemias and lymphomas. Detects clonatity that is highly suggestive of malignancy (99% of B-cell malignancies and 94% of T-cell malignancies compared to Southern Blot Analysis). Useful for detecting residual disease or monitoring disease recurrence.
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Myeloma
Morphology
Preparation of blood smears and/or bone marrow core/clot and smears for staining and identification of number and morphology of cells. Utilizes cytochemistry and immunhistochemistry (up to 30 stains and/or antibodies) including iron and reticulin stains.
Flow Cytometry TestsIntelligent Flow ProfileFlow cytometric phenotyping for hematologic malignancies. Utilizes rational marker selection for efficient flow analysis of up to 43 antibodies.
DNA Ploidy and S-Phase Cell Cycle Analysis for Confirmed Plasma Cell DyscrasiaMeasurement of DNA ploidy and percent of cells in S-phase for cell proliferation along with other relevant markers. Information to help determine prognosis and assist in management of plasma cell dyscrasias.
Cytogenetics/FISHCytogenetics with Reflex to Fluorescence in situ Hybridization (FISH) Metaphase analysis of chromosomal abnormalities through traditional banding identification and further reflex to interphase FISH for chromosome region specific labeling as needed.
| Normal male karyotype | Abnormal male karyotype with loss of Y |
Cytogenetics - Karyotyping Only Traditional G-banding for metaphase analysis. Detection of chromosomal gains and/or losses, as well as deletions, inversions or translocations specific to hematopoietic malignancies.
Fluorescence in situ Hybridization (FISH) Gene specific targeting of chromosomal abnormalities in leukemias and myeloid disorders. Profiles available for CLL, MM, MDS, MPD, AML, and ALL as well as individual probes for specific subsets of lymphomas and leukemias, myeloproliferative neoplasms, and bone marrow transplantation.
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Myelodysplastic Sydrome (MDS)
Morphology
Preparation of blood smears and/or bone marrow core/clot and smears for staining and identification of number and morphology of cells. Utilizes cytochemistry and immunhistochemistry (up to 30 stains and/or antibodies) including iron and reticulin stains.
Flow Cytometry TestsIntelligent Flow Profile Flow cytometric phenotyping for hematologic malignancies. Utilizes rational marker selection for efficient flow analysis of up to 43 antibodies.
Cytogenetics/FISHCytogenetics with Reflex to Fluorescence in situ Hybridization (FISH) Metaphase analysis of chromosomal abnormalities through traditional banding identification and further reflex to interphase FISH for chromosome region specific labeling as needed.
| Normal female karyotype | Karyotype shows Trisomy 8 |
Cytogenetics - Karyotyping Only Traditional G-banding for metaphase analysis. Detection of chromosomal gains and/or losses, as well as deletions, inversions or translocations specific to hematopoietic malignancies.
Fluorescence in situ Hybridization (FISH) Gene specific targeting of chromosomal abnormalities in leukemias and myeloid disorders. Profiles available for CLL, MM, MDS, MPD, AML, and ALL as well as individual probes for specific subsets of lymphomas and leukemias, myeloproliferative neoplasms, and bone marrow transplantation.
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Myeloproliferative Disorders/Neoplasms (MPD/MPN)
Morphology
Preparation of blood smears and/or bone marrow core/clot and smears for staining and identification of number and morphology of cells. Utilizes cytochemistry and immunhistochemistry (up to 30 stains and/or antibodies) including iron and reticulin stains.
Flow Cytometry TestsIntelligent Flow Profile Flow cytometric phenotyping for hematologic malignancies. Utilizes rational marker selection for efficient flow analysis of up to 43 antibodies.
CytogeneticsCytogenetics with Reflex to Fluorescence in situ Hybridization (FISH) Metaphase analysis of chromosomal abnormalities through traditional banding identification and further reflex to interphase FISH for chromosome region specific labeling as needed.
| CML: Philadelphia chromosome t(9;22) | Male Karyotype with Complex Abornmalities |
Cytogenetics - Karyotyping Only Traditional G-banding for metaphase analysis. Detection of chromosomal gains and/or losses, as well as deletions, inversions or translocations specific to hematopoietic malignancies.
Fluorescence in situ Hybridization (FISH) Gene specific targeting of chromosomal abnormalities in leukemias and myeloid disorders Profiles available for CLL, MM, MDS, MPD, AML, and ALL as well as individual probes for specific subsets of lymphomas and leukemias, myeloproliferative neoplasms, and bone marrow transplantation.
Molecular Testsbcr/abl t(9;22) Quantitative GenoTRACE® Assay for CML (Chronic Mylogenous Leukemia) Real-Time PCR for detection of t(9;22) and quantitation in CML. Offers exceptional sensitivity (1:10,000 cells) for serial monitoring of residual disease and molecular response to Gleevec® and other therapeutics.
JAK2 (Janus Kinase 2) Quantitative Mutation Analysis for MPNs (Myeloproliferative Neoplasms) Identification and quantitation of V617F mutation as a diagnostic indicator in polycythemia vera and other myeloproliferative neoplasms. Provides molecular confirmation of morphologic, flow, and cytogenetic markers. The determination of the percentage of the mutant cells present helps determine the heterozygous or homozygous population.
Test results report the percentage of cells which have the mutant DNA present between 2.5% and 75%. Test results above 75% are reported as POSITIVE, >75% mutant.
MPL W515L/K Mutation Detection (Thrombopoietin Receptor) for MPNs (Myeloproliferative Neoplasms) Identification of the W515L or W515K mutation as a diagnostic indicator for primary myelofibrosis (PMF) or essential thrombocythemia (ET). MPL testing is useful for patients with suspected MPD, including ET, IMF, and those who are negative for the JAK2 V617F mutation. The test has a sensitivity down to 5% and can detect both the L and K mutations simultaneously.
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Metastatic Breast, Colorectal, and Prostate Cancers
Circulating Tumor Cell (CTC) Test CellSearch™ for Metastatic Breast, Colorectal, and Prostate CancersIdentification and enumeration of CTCs in metastatic breast, colorectal, and prostate cancer. Metastatic breast and prostate patients with <5 CTCs have significantly better survival than patients with >5 CTCs. The threshold for colorectal cancer is >3.
Provides detection down to one CTC per 7.5ml of peripheral blood for information on survival in metastatic disease and for monitoring effectiveness of treatment.
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Lung Cancer
K-RAS Mutation Analysis and EGFR Amplification AnalysisMutations of the ras gene are frequently associated with poor response to therapies that target the epidermal growth factor receptor (EGFR), including molecular inhibitors (erlotinib) and anti-EGFR monoclonal antibodies (panitumumab and cetuximab). The National Comprehensive Cancer Network (NCCN) and American Society of Clinical Oncology (ASCO) have updated their guidelines to recommend that treating physicians should determine the K-RAS gene status of either a primary or metastasizing tumor as part of a pre-treatment assessment for patients diagnosed with colon cancer. The NCCN also recommends that only patients with tumors that exhibit wild-type K-RAS status should be treated with certain EGFR targeted therapies including erlotinib, cetuximab and panitumumab.
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Colon Cancer
K-RAS and B-RAF Mutation AnalysisB-RAF is a part of the Ras/Raf/MEK/MAP signal transduction pathway. In patients with metastatic colorectal cancer that have a wild-type K-RAS status, mutations in the B-RAF gene are associated with a less than favorable prognosis and likely poor response to the anti-EGFR antibodies, panitumumab and cetuximab. Prognostically, B-RAF-mutated colorectal tumors are associated with shorter PFS and OS.
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