The complete specialized oncology laboratory resources at Genoptix® represent our dedication to providing you with the best-in-class technical services and professional consultation from our leading experts exactly when you need it.
Below, you will find all the diagnostic testing and consultation services that Genoptix can provide at your request. Simply click on the service to see an in-depth description of each offering.
Technical Service Only (No Interpretation)
Flow Cytometry
Flow Basic Immunophenotypic Profile
Flow cytometric phenotyping for hematologic malignancies. Utilizes 24 antibodies for efficient flow analysis.
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Learn More About this Specific Offering >
Professional Services Only
Consultation
Second Opinion Consultation
A consultation by a Genoptix hematopathologist on previously diagnosed cases. Requires appropriate clinical data, including slides, the most recent morphology report, and all laboratory test results, for accurate opinion.
Global Diagnostic Services (Professional & Technical)
6-COLOR FLOW CYTOMETRY
Intelligent Flow Profile
Flow cytometric phenotyping for hematologic malignancies.
Utilizes rational marker selection for efficient flow analysis of up to 43 antibodies.
Utilizes rational marker selection for efficient flow analysis of up to 43 antibodies.
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.
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).
Myeloma MRD Profile
Assessment uses Kappa, Lambda, CD38, CD138, CD19, CD56, and CD45 for minimal residual disease monitoring in myeloma. Sensitivity is 0.01%. The assay can detect one myeloma cell in 10,000 leukocytes.
CYTOGENETICS
Chromosome Analysis
Traditional G-banding for metaphase analysis.
Description 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 leukemia 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, and myeloproliferative disorders and bone marrow transplantation.
Profiles available for CLL, MM, MDS, MPD, AML, and ALL, as well as individual probes for specific subsets of lymphomas and leukemias, and myeloproliferative disorders and bone marrow transplantation.
MOLECULAR TESTS
bcr/abl t(9;22) Quantitative GenoTRACE® Assay
Real-time PCR for detection of t(9;22) and quantitation of MRD in CML.
Offers exceptional sensitivity (1:10,000 cells) for serial monitoring of residual disease and molecular response to TKIs and other therapeutics. Reporting will be on the International Scale (IS) when the BCR-ABL1 fusion transcripts result from a major breakpoint (b2a2 and b3a2). The IS is anchored to the baseline BCR-ABL1 expression level from the International IRIS trial (100% IS) with a major molecular response (MMR) corresponding to 0.1% IS.
Offers exceptional sensitivity (1:10,000 cells) for serial monitoring of residual disease and molecular response to TKIs and other therapeutics. Reporting will be on the International Scale (IS) when the BCR-ABL1 fusion transcripts result from a major breakpoint (b2a2 and b3a2). The IS is anchored to the baseline BCR-ABL1 expression level from the International IRIS trial (100% IS) with a major molecular response (MMR) corresponding to 0.1% IS.
JAK2 (Janus Kinase 2) Quantitative Mutation Analysis
Identification and quantitation of V617F mutation as a diagnostic indicator in polycythemia vera and other myeloproliferative disorders.
The determination of the percentage of the mutant cells present helps determine the heterozygous or homozygous population.
Test results report the percentage of cells that have the mutant DNA percentage at between 1% and 75%. Test results above 75% are reported as POSITIVE, >75% mutant.
The determination of the percentage of the mutant cells present helps determine the heterozygous or homozygous population.
Test results report the percentage of cells that have the mutant DNA percentage at between 1% and 75%. Test results above 75% are reported as POSITIVE, >75% mutant.
MPL W515L/K Mutation Detection
Identification of the W515L or W515K mutation as a diagnostic indicator for idiopathic myelofibrosis (IMF) 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 sensitivity down to 5% and can detect both the L and K mutations simultaneously.
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 sensitivity down to 5% and can detect both the L and K mutations simultaneously.
T- or B-Cell Clonality
Identification of clonal T- and B-cell populations highly suggestive of T- and B-cell malignancies. Lineage determination of leukemias and lymphomas.
Detects clonality 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.
Detects clonality 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.
IgVH Hypermutation Analysis
Identification of the % mutation in the IgH gene V region compared with the native germline provides prognostic information in patients with confirmed CLL.
IgH gene mutation >2% indicate a favorable prognosis, while IgH gene mutations ≤2% indicate a less favorable prognosis. This test is especially helpful as prognoses of CLL patients vary dramatically.
IgH gene mutation >2% indicate a favorable prognosis, while IgH gene mutations ≤2% indicate a less favorable prognosis. This test is especially helpful as prognoses of CLL patients vary dramatically.
FLT3 Mutation Analysis
Identification of FLT3 and its ligand as they play an important role in proliferation, survival, and differentiation of hematopoietic progenitor cells.
Association with inferior outcome; level of mutant allele likely of importance; homozygous FLT3 mutations as a result of mitotic recombination leading to partial uniparental disomy.1
Testing will be performed at Laboratory for Personalized Molecular Medicine (Lab PMM) of San Diego, California.
Association with inferior outcome; level of mutant allele likely of importance; homozygous FLT3 mutations as a result of mitotic recombination leading to partial uniparental disomy.1
Testing will be performed at Laboratory for Personalized Molecular Medicine (Lab PMM) of San Diego, California.
NPM1 Mutation Analysis
Identification of NPM1 mutations as they are associated with FLT3-ITD (~40%) and FLT3 TKD mutations. NPM1 is also associated with higher BM blast counts and serum LDH levels, myelomonocytic or monocytic morphology, and high CD33 and absent CD34 expression.
Generally associated with better response to induction chemotherapy, and genotype “mutant NPM1 without FLT3-ITD” is associated with favorable relapse-free survival and overall survival. Patients with “mutant NPM1 without FLT3-ITD” may not benefit from MRD transplantation in first complete response.1
Generally associated with better response to induction chemotherapy, and genotype “mutant NPM1 without FLT3-ITD” is associated with favorable relapse-free survival and overall survival. Patients with “mutant NPM1 without FLT3-ITD” may not benefit from MRD transplantation in first complete response.1
cKIT (D816V) Mutation Analysis
cKIT and its ligand stem cell factor have a key role in survival, proliferation, differentiation, and functional activation of hematopoietic progenitor cells.
cKIT mutations are found in about 30% of core binding factor AML, and in rare cases of other AML types. cKIT mutations, in particular in exon 17, are associated with inferior outcome in many but not all studies.
cKIT mutations are found in about 30% of core binding factor AML, and in rare cases of other AML types. cKIT mutations, in particular in exon 17, are associated with inferior outcome in many but not all studies.
PML/RARA (Quantitative)
PML/RARA may be seen in a karyotype as t(15;17)(q22;q12). Messenger RNA (PML/RARA) produced from the fusion gene can be detected using a polymerase chain reaction (PCR)-based assay, and indicates the presence of neoplastic cells.
The PCR-based assay has greater sensitivity than standard methods such as morphology review, karyotyping, or fluorescence in situ hybridization (FISH). This quantitative assay allows PML/RARA levels to be monitored rather than simply detecting the presence or absence of disease.2
The PCR-based assay has greater sensitivity than standard methods such as morphology review, karyotyping, or fluorescence in situ hybridization (FISH). This quantitative assay allows PML/RARA levels to be monitored rather than simply detecting the presence or absence of disease.2
CEBPA Mutation Analysis
Encodes a master regulatory transcription factor in hematopoiesis. CEBPA mutations are found in 10%-18% of CN-AML cases, and in about 40% of AML with 9q deletion occurring within a non-complex karyotype. CEBPA mutations are associated with higher CR rate and better RFS and OS.1
CIRCULATING TUMOR CELL (CTC) TEST
CellSearch™ Circulating Tumor Cell (CTC) Test for Metastatic Breast, Colorectal, and Prostate Cancers
Identification 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 PFS and OS in metastatic disease and for monitoring effectiveness of treatment.
The threshold for colorectal cancer is >3.
Provides detection down to one CTC per 7.5ml of peripheral blood for information on PFS and OS in metastatic disease and for monitoring effectiveness of treatment.
BREAST CANCER
ER & PR Expression by AQUA® Technology
Quantitative measurement of receptor expression in tumor regions is performed using AQUA analysis with the final result (positive or negative) determined based on validation studies performed in this laboratory. Inherently more quantitative than conventional IHC, fluorescent IHC with AQUA analysis allows for reliable assessment of receptor expression in the nuclear compartment using multi-color channel signal assignment. AQUA analysis offers dependability and consistency compared to scoring non-linear stains on highly subjective semi-quantitative scale.
HER2 Amplification by FISH
Over expression of HER2 (human epidermal growth factor receptor) protein receptors is associated with more aggressive disease, increased disease recurrence and unfavorable prognosis. Treatment of patients with increased HER2 expression with trastuzumab (Herceptin®) has resulted in increased overall survival.
COLORECTAL CANCER
K-RAS Mutation Analysis
K-RAS mutation can help determine the likelihood of response to treatment with EGFR inhibitors cetuximab and panitumumab.
K-RAS mutations are strongly associated with poor response to anti-EGFR therapies.3-7
K-RAS mutations are strongly associated with poor response to anti-EGFR therapies.3-7
B-RAF Mutation Analysis
B-RAF mutation is prognostic for overall survival of patients regardless of treatment. This is also true for patients treated with EGFR inhibitors cetuximab and panitumumab.8
MSI Analysis
MSI expression can help identify the likelihood of benefit from 5-FU or capecitabine in patients with stage II disease.
ERCC1 Gene Expression
ERCC1 expression can help determine the likelihood of response to platins.
High levels of ERRC1 may reduce therapeutic effect of oxaliplatin. The ERCC1 protein facilitates DNA repair, enabling tumor survival.9
High levels of ERRC1 may reduce therapeutic effect of oxaliplatin. The ERCC1 protein facilitates DNA repair, enabling tumor survival.9
TS Gene Expression
TS expression can help determine the likelihood of response to 5-FU and capecitabine.
5-FU and capecitabine achieve their therapeutic effect by inhibiting thymidylate synthase (TS).
5-FU and capecitabine achieve their therapeutic effect by inhibiting thymidylate synthase (TS).
DPD Mutation Analysis
DPD can help determine likelihood of increased toxicity from 5-FU and capecitabine.
UGT1A1 Mutation Analysis
UGT1A1 can help determine likelihood of increased toxicity from irinotecan.
UGT1A1 converts the active metabolite of irinotecan to an inactive form.
UGT1A1 converts the active metabolite of irinotecan to an inactive form.
NON-SMALL CELL LUNG CANCER
EGFR Mutation Analysis
EGFR mutation helps predict likelihood of response to EGFR-tyrosine kinase inhibitor (TKI) therapies.10-13
EGFR Gene Amplification Analysis
EGFR amplification in certain cases of NSCLC helps predict likelihood of response and survival in patients treated with gefitinib, erlotinib, or cetuximab.14
EML4-ALK Rearrangement by FISH
Translocations involving the anaplastic lymphoma kinase (ALK) gene have been described in a small subset, 3-7%, of non-small cell lung cancer (NSCLC), mostly younger with adenocarcinoma and little or no smoking history. Studies have shown that ALK defines a subset of NSCLC that is mutually exclusive from EGFR and K-RAS mutations.15-17 The presence of EML4-ALK in NSCLC is predictive of possible tumor responsiveness to ALK tyrosine kinase inhibitors.16,17
ERCC1 Gene Expression
ERCC1 expression can help determine likelihood of response of platinum-based chemotherapy, and is prognostic of survival.
K-RAS Mutation Analysis
K-RAS mutation can help determine the likelihood of response to treatment with EGFR inhibitors cetuximab and panitumumab.
K-RAS mutations are strongly associated with poor response to anti-EGFR therapies.3-7
K-RAS mutations are strongly associated with poor response to anti-EGFR therapies.3-7
RRM1 Gene Expression
RRM1 can help determine likelihood of response to gemcitabine, and is prognostic of survival.14
TS Gene Expression
TS expression can help determine the likelihood of response to pemetrexed and is prognostic for overall survival.14,18
UGT1A1 Mutation Analysis
UGT1A1 can help determine likelihood of increased toxicity from irinotecan.
UGT1A1 converts the active metabolite of irinotecan to an inactive form.
UGT1A1 converts the active metabolite of irinotecan to an inactive form.
MELANOMA
Melanoma Profile by Next-Gen Sequencing
This assay analyzes clinically relevant mutations in mutliple exons of the B-RAF, NRAS and cKIT oncogenes.
B-RAF
B-RAF
- V600E and V600K mutations are associated with response to B-RAF inhibitors19,20
- Identifies all clinically relevant B-RAF mutation as recommendations by NCCN21
- Associated with high dose IL-2 response and shorter overall survival22
- Common in acral & mucosal melanoma subtypes, and is associated with poor overall survival23
cobas® B-RAF V600 Mutation
FDA-approved for detection of B-RAF V600E mutation. It also predicts likelihood of response to vemurafenib.
