Oncology Testing

EGFR Mutation Analysis in Non-Small Cell Lung Cancer (NSCLC)

Mon, 24 May 2010 20:56:28 GMT

Epidermal growth factor receptor (EGFR) mutation analysis detects EGFR gene mutations in tumor specimens of patients with non-small cell lung cancer (NSCLC). EGFR, when activated, plays a role in cellular tumor growth and proliferation and is the target of tyrosine kinase inhibitors (TKI). Clinical studies have found that up to 20% of NSCLC tumors harbor the EGFR mutation, and that ~85% of patients with these mutations respond to TKI treatment.

The molecular diagnostic procedure incorporates PCR amplification and bidirectional gene sequencing of exons 18 through 21 of the tyrosine kinase domain of the EGFR gene. Mutation-positive specimens are confirmed by repeat sequencing of the tumor sample. Germline mutation analysis will need to be performed on a separate DNA sample (peripheral blood or mouthwash) if novel mutations are detected in the tumor.

Information Sheet - EGFR Mutation Analysis - NSCLC (PDF)

EGFR Mutation Analysis: 83890(1), 83892(4), 83898(4), 83901(2), 83904(8), 83907(1), 83912(1), 83900(1), 83909(8), 88381(1);

Germline Analysis: 83890(1), 83891(1), 83892(8), 83898(8), 83900(2), 83901(4), 83904(16), 83907(1), 83909(16), 88381(1)

UGT1A1 Molecular Assay™

Mon, 24 May 2010 20:48:21 GMT

The FDA-cleared Invader® UGT1A1 Molecular Assay is an in-vitro diagnostic test that detects two genetic polymorphisms in the UGT1A1 gene. The enzyme produced by UGT1A1 is responsible for the metabolism of irinotecan (Camptosar®), a drug used in combination with standard chemotherapeutic agents in the first-line treatment of patients with metastatic colorectal cancer.

The active form of irinotecan is metabolized by the polymorphic enzyme UGT1A1. UGT1A1 activity is reduced in individuals with genetic polymorphisms that lead to reduced enzyme activity, such as the UGT1A1*28 polymorphism. Approximately 10% of the North American population is homozygous for the UGT1A1*28 allele. Patients with reduced UGT1A1 activity are at an increased risk of experiencing grade 4 neutropenia when treated with irinotecan.

The UGT1A1 Molecular Assay detects the *1 (TA6) and *28 (TA7) alleles of the UGT1A1 gene in genomic DNA. This test will help identify patients with a greater risk for irinotecan toxicity.

Information Sheet - UGT1A1 Molecular Assay (PDF)

EGFR Amplification by FISH

Mon, 24 May 2010 20:42:30 GMT

Detection of EGFR gene amplification by fluorescence in situ hybridization (FISH) may be demonstrated in different types of cancers. Interpretive criteria for tumors, other than non-small cell lung cancer, have not been established.

Colorectal Cancer
Based on current literature, EGFR gene amplification and/or high polysomy, as measured by FISH testing, are associated with a favorable clinical benefit in patients with CRC who are treated with EGFR-targeted therapies, such as Erbitux^® and Vectibix^®.

Non-Small Cell Lung Cancer
Based on current literature, EGFR gene amplification and/or high polysomy, as measured by FISH testing, are associated with a favorable clinical benefit in patients with non-small cell lung carcinoma (NSCLC) who are treated with tyrosine kinase inhibitors (TKI), such as gefitinib and erlotinib.

The FISH test results should be used in conjunction with other clinical information. The probe used is EGFR-CEP^®7 Dual Color DNA Probe (Vysis^®).

Information Sheet - EGFR Amplification by FISH - NSCLC (PDF)

ALK Gene Rearrangements by FISH in NSCLC

Mon, 24 May 2010 20:33:37 GMT

Detection of ALK gene rearrangements by fluorescence in situ hybridization (FISH) may be demonstrated in different types of cancers. Recent studies have demonstrated that the determination of the presence of ALK gene rearrangements helps treating physicians select more effective therapies for patients with non-small cell lung cancer (NSCLC).

Based on current literature, the determination of ALK gene arrangements identify patients that may not benefit from targeted therapeutics like epidermal growth factor receptor (EGFR) tyrosine kinase inhibitors (TKIs) such as erlotinib.

ALK gene rearrangements define a distinct molecular subset of NSCLC that is mutually exclusive from EGFR and KRAS mutations.

Studies have also found that metastatic patients whose tumors harbor ALK mutations display similar sensitivity to platinum-based combination chemotherapy as patients without EGFR or KRAS mutations (wild-type).

The FISH test results should be used in conjunction with other clinical information. The probe used is an ALK Dual Color, Break Apart Rearrangement Probe (Vysis^®).

Information Sheet - ALK Testing - NSCLC (PDF)

KRAS Mutation Analysis in Non-Small Cell Lung Cancer (NSCLC)

Mon, 24 May 2010 20:04:05 GMT

Genzyme’s KRAS Mutation Analysis provides additional guidance in therapeutic treatment decisions for patients with non-small cell lung cancer (NSCLC).

Mutations in the KRAS gene, a known downstream signaling molecule in the EGFR signaling pathway, have been described in approximately 15-30% of lung adenocarcinoma.

Recent studies have found mutations in the KRAS gene to be associated with a poor prognosis. Studies have also found KRAS mutations more frequent in patients who show limited clinical response or develop disease progression with targeted tyrosine kinase inhibitor (TKI) treatments. As a result, determining the KRAS mutational status of a tumor may guide therapeutic decision making for patients with NSCLC.

The molecular diagnostic procedure incorporates allele-specific primer extensions for detecting mutations in codons 12 and 13 of the KRAS gene.

Please Note: Include a copy of the original pathology report.

Information Sheet - KRAS Mutation Analysis - NSCLC (PDF)

CLL-MRD (Minimal Residual Disease) Testing by Flow Cytometry

Mon, 24 May 2010 20:00:44 GMT

Chronic lymphocytic leukemia (CLL)-MRD testing utilizes a 12-antibody flow cytometry panel in concert with a sequential gating strategy to isolate pure CLL B-cells from normal B-cells and regenerating cells. This process allows for the differentiation of 1 CLL cell in 10,000 normal B-cells and provides a quantitative measurement of the MRD status of patients with CLL who are undergoing therapy. Patients who achieve CLL-MRD-negative status have improved overall and progression-free survival. This test is not suitable for making primary diagnosis or monitoring unreated CLL patients with a high tumor load.

Information Sheet - CLL MRD Testing (PDF)

JAK2 Mutation Analysis in Myeloproliferative Disorders

Mon, 24 May 2010 19:53:36 GMT

JAK2 mutation analysis utilizes genomic DNA isolated from a patient’s sample in a real-time PCR assay to detect the V617F point mutation in the JAK2 gene. This assay has been validated to detect a minimum of 1% mutant sequence in a background of normal sequence. Identification of this point mutation in the JAK2 gene now allows for reliable diagnosis, classification and potential treatment of patients with myeloproliferative disorders (MPD).

Information Sheet - JAK2 Mutation Analysis (PDF)

IgVH Mutation Analysis in B-Cell Chronic Lymphocytic Leukemia (B-CLL)

Mon, 24 May 2010 18:37:05 GMT

The immunoglobulin variable region heavy chain (IgVH) gene encodes antibodies that function in the immune response. IgVH mutation status identifies two CLL disease subtypes with differing clinical course: indolent and aggressive.

Patients with hypermutated IgVH have a better prognosis (median survival 293 months).
Patients without hypermutated IgVH have a poorer prognosis (median survival 11 7 months).
~50-70% of patients with CLL have evidence of IgVH somatic mutations.

RNA is reverse transcribed into cDNA and amplified by the polymerase chain reaction (PCR) using primer sets for the IgH gene. PCR products are analyzed by direct DNA sequencing using capillary gel electrophoresis and fluorescence detection. The percentage mutation is assessed by comparison of the VH region sequence to a germline gene sequence database. A sequence that differs from its germline counterpart by >2% is defined as mutated.

Information Sheet - IgVH Mutation Analysis (PDF)

KRAS Mutation Analysis in Colorectal Cancer (CRC)

Mon, 24 May 2010 17:26:22 GMT

Genzyme’s KRAS Mutation Analysis provides additional guidance in therapeutic treatment decisions for patients with colorectal cancer (CRC).

Mutations in the KRAS gene, a known downstream signaling molecule in the EGFR signaling pathway, have been described in approximately 30-50% of colorectal carcinomas.

Recent studies have found mutations in the KRAS gene to be associated with a poor prognosis. Studies have also found KRAS mutations more frequent in patients who show limited clinical response to targeted anti-epidermal growth factor receptor (anti-EGFR) therapies. As a result, determining the KRAS mutational status of a tumor may guide therapeutic decision making for patients with CRC.

The molecular diagnostic procedure incorporates allele-specific primer extensions for detecting mutations in codons 12 and 13 of the KRAS gene.

Information Sheet - KRAS Mutation Analysis - CRC (PDF)

ABL Kinase Domain Mutation Analysis in CML

Mon, 24 May 2010 17:04:29 GMT

CML is caused by a translocation between the long arms of chromosomes 9 and 22 (Philadelphia Chromosome), resulting in a hybrid gene, ABL. ABL encodes a fusion protein with tyrosine kinase activity, leading to uncontrolled cell growth. Imatinib mesylate (Gleevec®), is used as the first-line treatment of CML. Imatinib selectively targets and inhibits the ABL fusion protein that results from the gene rearrangement. Ninety-five percent (95%) of CML patients treated with imatinib achieve complete hematologic response. However, a subset of these patients acquires secondary resistance to imatinib, leading to clinical relapse. Mutations in the ABL fusion gene are the most commonly reported mechanism of acquired resistance to imatinib. In the presence of rapidly rising ABL levels, monitoring patients for ABL mutations may help clinicians tailor specific therapeutic options.

The molecular diagnostic procedure incorporates PCR amplification and bidirectional gene sequencing of the entire ABL tyrosine kinase domain. Mutation-positive specimens are confirmed by repeat sequencing of the tumor sample.

This test is intended for patients with CML who have a detectable level of the ABL major breakpoint (e13a2, e14a2) transcripts (relative to a standard curve). Please Note: This assay does not detect mutations in patients with e1 breakpoints. The sequencing assay is sensitive for the detection of a mutation present in at least 20% of cells.

Information Sheet - ABL Kinase Mutation Analysis (PDF)

p53 Mutation Analysis in B-Cell Chronic Lymphocytic Leukemia (B-CLL)

Mon, 24 May 2010 16:58:11 GMT

P53 is a tumor suppressor gene, located on chromosome 17p13.1, which stops cell division when DNA damage is present, thus allowing DNA repair to occur before cell division. When p53 does not function normally due to gene mutations or a gene deletion, cancer cells can accumulate.

Over 10% of patients with B-CLL have a dysfunctional p53 gene. Patients may have p53 mutations, a p53 deletion or both. Mutations and deletions in p53 predict poor survival in B-CLL patients (median survival 6-31 months) versus those patients without p53 abnormalities (median survival of patients with normal karyotype >100 months). Several studies have demonstrated that alkylating agents, purine analogs and some monoclonal therapies are ineffective in treating CLL patients with p53 mutations and/or deletions. Finally, chemotherapy can cause p53 gene alterations, such that even if not present at initial diagnosis, refractory CLL can exhibit new alterations of p53.

The p53 mutation assay incorporates PCR amplification and bidirectional sequencing of p53 exons 5-9 along with their respective flanking splice sites. The assay can detect a mutation present in at least 20% of a B-cell enriched sample. FISH analysis is also available to detect a deletion of the 17p chromosome.

Information Sheet - 17p Deletion & p53 Mutation Analysis (PDF)

Immunohistochemistry (IHC) - Complex Tumor Analysis

Mon, 24 May 2010 15:54:08 GMT

Our pathologists employ panels of antibodies to help resolve diagnostic problems. Each panel is carefully chosen after review of H&E slides. The panel may contain up to 25 antibodies, depending on the complexity of the tumor.

Information Sheet - IHC - Complex Tumor Analysis (PDF)

Breast Cancer - Profiles

Fri, 21 May 2010 20:54:57 GMT

IHC analysis of breast cancer markers provides prognostic information to help the physician determine the risk of recurrence and predict response of certain types of therapies for the breast cancer patient. Assessment of DNA/S-Phase by flow cytometry is used as a prognostic marker in breast cancer. High S-Phase is associated with high histologic grade and less favorable prognosis when compared to tumors with lower S-Phase.

Information Sheet - Breast Cancer Profiles (PDF)

ER/PR
CPT Code:
88360(2)

Breast Cancer Profiles with HER2 (FISH):

ER/PR & HER2 (FISH)
CPT Codes:
88360(2), 88368(2)

ER/PR, DNA, Ki-67 & HER2 (FISH)
CPT Codes:
88182(1), 88360(3), 88368(2)

ER/PR, Ki-67 & HER2 (FISH)
CPT Codes:
88182(1), 88360(4), 88368(2)

Breast Cancer Profiles with HER2 (IHC):

ER/PR & HER2 (IHC)
CPT Code:
88360(3)

ER/PR, Ki-67 & HER2 (IHC)
CPT Code:
88360(4)

ER/PR, Ki-67, DNA & HER2 (IHC)
CPT Codes:
88182(1), 88360(4)

ER/PR, Ki-67, DNA, P53 & HER2 (IHC)
CPT Codes:
88182(1), 88360(5)

Bone Marrow Morphology - Complete Studies

Fri, 21 May 2010 20:49:05 GMT

Includes histologic and cytologic preparation, staining and interpretation of bone marrow smears, biopsies, clot and peripheral blood smears for morphological evaluation, including gross and microscopic examination, decalcification procedure and special stains.

Information Sheet - MDS (PDF)

cIg (Cytoplasmic Immunoglobulin) FISH for Multiple Myeloma

Sat, 15 May 2010 13:08:13 GMT

cIg FISH is a dual staining process that allows for enhanced detection of genetic abnormalities in multiple myeloma. The low proliferation and infiltrate of malignant myeloma cells in the bone marrow results in low detection rates ~30% by Karyotype Analysis and ~70-80% for conventional FISH. The cIg stain is an immunofluorescent antibody for Kappa and Lambda that identifies the clonal population plasma cells. This plasma cell enriched sample is then analyzed by FISH for common and relevant genetic abnormalities.

Multiple myeloma is a cancer of the plasma cell, white blood cells that produce antibodies. Incidence and prevalence for 2008 were estimated to be around 19,000 and 60,000, respectively. The disease is not curable but recent advancements in therapeutic development have made the disease treatable with several treatment regimens achieving extended progression free survival when compared to conventional chemotherapy. Prognostication of patients with multiple myeloma has grown in importance as therapeutic options have increased.

Recent studies have focused on the role of genetics abnormalities in the progression of disease. It has been observed that most patients with multiple myeloma harbor genomic abnormalities. A subset of these has been associated with having prognostic significance.

Genetic Abnormality	Incidence	Prognostic Interpretation
gain 1q21	40-43%	Poor
t(4;14)	12-14%	Poor
t(11;14)	15-21%	Favorable
t(14;16)	5%	Poor
del(17p)	9-11%	Poor
del(13)	48-54%	Poor

This test is intended for patients with multiple myeloma, smoldering myeloma, or monoclonal gammopathy of undetermined significance (MGUS), who have a detectable level of disease present in the bone marrow.

Information Sheet - cIg FISH (PDF)

BCR/ABL - t(9;22) by RT-PCR (Quantitative)

Tue, 04 May 2010 19:45:51 GMT

Detects the presence of cells in blood or bone marrow of cells containing the t(9;22) BCR/ABL major and minor translocations (Philadelphia Chromosome) associated with CML, AML and ALL. Sensitivity: 1 in 105 transcripts. This technique can be used to quantitatively monitor minimal residual disease.

UroVysion® FISH

Thu, 08 Apr 2010 20:51:56 GMT

Used in conjunction with standard diagnostic procedures to aid in the initial diagnosis of bladder cancer in patients with hematuria and to monitor for tumor recurrence in patients previously diagnosed with bladder cancer. UroVysion FISH detects aneuploidy for chromosomes 3, 7, 17 and loss of the 9p21 locus in cells from a patient’s urine. Presence of these abnormalities suggests that the cells are cancerous and that bladder cancer is present.

Peripheral Blood Smear Interpretation

Thu, 08 Apr 2010 20:46:02 GMT

Interpretation of peripheral blood smear with differential count and morphologic evaluation.

Pathology Consultation Services

Thu, 08 Apr 2010 20:45:16 GMT

Consultation and report on referred material requiring preparation of slides.

CPT Code:
88323(1)

Consultation and report on referred slides prepared elsewhere.

CPT Code:
88321(1)

Inv(16) RT-PCR

Thu, 08 Apr 2010 20:27:04 GMT

inv(16)(p13;q22) and related t(16;16)(p13;q22) cytogenetic abnormalities are observed in 10% of de novo acute myeloid leukemia (AML). Patients with inv(16) AML have demonstrated an approximately 90% complete remission (CR) rate and a 50-70% probability of remaining in CR for five years.

The qualitative RT-PCR assay detects the inv(16) (p13;q22) gene translocation in patients with AML. Because of its high sensitivity, measurement of inv(16) can be utilized to detect minimal residual disease following hematological remission and quantify the anti-leukemia effect of chemotherapy treatment.

The test detects the CBF ß-MYH11 major breakpoint fusion products (Type A) and one of the minor breakpoints reported in the literature. Over 85% of cases of inv(16) AML are associated with this major breakpoint. Sensitivity: 1 in 10,000 cells.

FISH (Fluorescence In Situ Hybridization)

Thu, 08 Apr 2010 19:53:07 GMT

Leukemias, lymphomas, other hematopoietic malignancies and some types of solid tumors can often be characterized by specific chromosomal and genetic abnormalities. Interphase FISH does not require cell division. FISH can be used to identify those specific abnormalities that are more common. Chromosome analysis may be ordered in conjunction with or prior to FISH testing.

FISH studies are used to determine the presence of a known or suspected abnormality. This is particularly useful when there are few or no dividing cells in the sample for cytogenetic analysis.

Please Note:

When requested, fluorescence in situ hybridization (FISH) can be performed as an adjunct to a Genzyme cytogenetics study.
Interpretation and report (added to all Interphase or Metaphase FISH)
New probes/FISH tests are frequently added to this list. Please contact Client Services if the test you desire is not included in the list. For additional probes, refer to our FISH Probe Library.

Colorectal Cancer – DNA Ploidy/S-Phase Analysis by Flow Cytometry

Thu, 08 Apr 2010 19:08:42 GMT

Flow cytometry can be used to measure the DNA content of abnormal cellular populations and to determine percentages of cells in various phases of the cell cycle.

Assessment of DNA ploidy using flow cytometry is one of the most extensively investigated prognostic parameters in cancer biology. Aneuploidy in colorectal cancer is associated with unfavorable prognosis.

Breast Cancer Markers by Immunohistochemistry (IHC)

Thu, 08 Apr 2010 16:55:12 GMT

Immunohistochemistry is used to characterize various surface and intracellular proteins from cells of all tissues. Individual markers and more often panels of various marker proteins can be used to distinguish carcinoma from sarcoma or lymphoma, mesothelioma or melanoma, characterize various tumor subtypes, confirm tissue of origin, help distinguish metastatic from primary tumor and provide additional information about tumors, which may be important for staging, prognosis, predicting response to therapy or evaluating for residual tumor post treatment. The most common panel is one used for breast cancer patients to determine hormone receptor expression and other markers that predict response to certain therapies and determine risk of recurrence to assist in treatment decisions such as surgery, radiation therapy and chemotherapy.

Common breast cancer prognostic and therapeutic markers used include:

ER
HER2
Ki-67
PR
p53

These markers may be ordered individually or in various combinations at the physician’s request.

Breast Cancer Panels with reflex options are also available. See test requisitions on this website.

For additional antibodies, refer to our Antibody Library.

Breast Cancer – DNA Ploidy/S-Phase Analysis by Flow Cytometry

Tue, 06 Apr 2010 19:53:25 GMT

Flow cytometry can be used to measure the DNA content of abnormal cellular populations and to determine percentages of cells in various phases of the cell cycle. Stain: Propidium Iodide.

Assessment of DNA/S-Phase using flow cytometry is one of the most extensively investigated prognostic parameters in cancer biology. High S-Phase in breast cancer is associated with unfavorable prognosis.

Bone Marrow - Smear Interpretation

Tue, 06 Apr 2010 19:52:16 GMT

Interpretation of bone marrow smear with differential count.

Interpretation of peripheral blood smear findings is available when accompanying a bone marrow aspirate smear, bone marrow core biopsy, bone marrow clot section or flow cytometry section.

Bone Marrow Morphology - Cytochemistry

Tue, 06 Apr 2010 19:50:58 GMT

To identify enzyme constituents in hematologic cells.

B-Cell Gene Rearrangements by PCR

Tue, 06 Apr 2010 19:47:31 GMT

Detects B-cell clonality in blood, bone marrow, body fluid cells and paraffin-embedded tissues. Used in the diagnosis, staging or monitoring of various lymphomas and other B-cell lymphoproliferations. Sensitivity: 1 clonal cell per 100 normal cells. PCR detects up to 85-90% of IgH gene rearrangements.

AML1/ETO - t(8;21) by RT-PCR

Tue, 06 Apr 2010 19:46:42 GMT

A specific chromosomal translocation found in 10% of acute myelogenous leukemia (AML), most commonly in AML with maturation in the myeloid lineage (AML-M2). The t(8;21) translocation is one of several chromosomal alterations associated with lower risk of relapse and more favorable overall prognosis amongst various types of AML. RT-PCR may detect t(8;21) that cannot be identified by cytogenetics, and may be used for monitoring minimal residual disease. Sensitivity: at least 1 cell per 100,000 cells.

T-Cell Gene Rearrangements by PCR

Fri, 22 Jan 2010 21:37:14 GMT

Detects T-cell clonality in blood, bone marrow, body fluid cells and paraffin-embedded tissue. May be used to monitor minimal residual disease. Sensitivity: 1-5 abnormal cells per 100. Detects the majority of T-cell receptor gamma subunit (TCR) gene rearrangements. Clinical sensitivity 90-95%.

PML/RARA - t(15;17) by RT-PCR

Fri, 22 Jan 2010 21:33:22 GMT

Detects the t(15;17) translocation at the three break points associated with acute promyelocytic leukemia (APL).

Morphology – Special Stains

Fri, 22 Jan 2010 21:28:48 GMT

Special histochemical stains are used to detect intra- and extra-cellular components, amyloid and microorganisms in paraffin-embedded tissue sections. Iron and Wright-Giemsa stains can be used for blood and marrow smears as well.

Special Stains - Group I

Special stains for microorganisms:

Acid Fast Bacillus (AFB)
Gomori Methenamine Silver (GMS)

CPT Code:

Group 1: 88312 (per antibody)

Special Stains - Group 2

All other special stains except immunocytochemistry:

Iron
Reticulin
Wright-Giemsa
Congo Red
Giemsa (tissue)
Mucicarmine

CPT Code:

Group 2: 88313 (per antibody)

Molar Pregnancy Evaluation (p57 and DNA Ploidy/S-Phase)

Fri, 22 Jan 2010 21:28:00 GMT

For differential diagnosis of molar and non-molar pregnancies and to identify partial and complete hydatidiform mole.

Micrometastases – Melanoma/Carcinoma in Lymph Node

Fri, 22 Jan 2010 21:26:56 GMT

Evaluation of micrometastasis (less than 2 mm) in carcinoma and melanoma.

Micrometastases – Bone Marrow/Lymph Node/Peripheral Blood/Stem Cell Products

Fri, 22 Jan 2010 21:25:39 GMT

Evaluation of sample by immunohistochemistry to evaluate for presence of carcinoma or other solid tumors. Used for staging sentinel lymph nodes, monitoring minimal residual disease in bone marrow, or rare event detection in bone marrow, blood or stem cell products.

KRAS Mutation Analysis in Other Cancers

Fri, 22 Jan 2010 21:23:39 GMT

Mutations in the KRAS gene are frequently found in human cancers. Recent studies have found mutations in the KRAS gene to be associated with a poor prognosis and predictive of limited clinical response to cancer therapies targeted to the EGFR/KRAS pathway. Genzyme offers KRAS Mutation Analysis in several tumor types found to harbor KRAS mutations.

Additional tumor types can include:

Colorectal
Non-small cell lung
Ovarian
Bile Duct
Pancreas
Esophageal
Appendix
Breast
Endometrial
Gastric
Thyroid

KRAS Mutation Analysis analyzes codons 12 and 13 of the KRAS gene by single nucleotide primer extension.

CPT Codes:

83890(1), 83892(3), 83898(1), 83907(1), 83909(2), 83912(1), 83914(4), 88381(1)

Please Note: Include a copy of the original pathology report.

iScope^™ Virtual Microscopy

Fri, 22 Jan 2010 21:19:19 GMT

Breast Cancer Markers:
Technical component.

Our specialized virtual slide imaging system provides high resolution images of IHC-stained, paraffin-embedded tissue specimens and allows physicians to objectively quantify the intensities and percentage of cells stained for prognostic and therapeutic biomarkers in breast cancer.

Markers:

ER/PR
HER2
Ki-67
p53

Information Sheet - iScope™ (PDF)

Infectious Agents by In Situ Hybridization (ISH)

Fri, 22 Jan 2010 21:16:37 GMT

Epstein Barr Virus (EBER)
(JC) Virus – Progressive multifocal leukoencephalopathy virus
HPV tissue testing:

Human Papilloma Virus (HPV) – Screen
Human Papilloma Virus (HPV) – Screen & subtype
Human Papilloma Virus (HPV) – Subtype only

Infectious Agents by Immunohistochemistry (IHC)

Fri, 22 Jan 2010 21:09:53 GMT

Adenovirus
CMV
EBV (LMPI)
Heliocobacter pylori (H. pylori)
Hepatitis B Surface Antigen
Hepatitis B Core Antigen
Hepatitis C Antigen
Herpes Simplex Virus
Pneumocystis carinii
Toxoplasma
Varicella Zoster Virus

Immunohistochemistry (IHC) - Individual Markers

Fri, 22 Jan 2010 21:08:55 GMT

For a listing of specific antibodies, refer to our Antibody Library.

Immunohistochemistry (IHC)

Fri, 22 Jan 2010 21:02:40 GMT

Identifies cellular or tissue constituents (antigens) by means of antigen-antibody interactions. The technique consists of the following steps:

primary antibody binds to specific antigen
antibody-antigen complex is bound by a secondary enzyme conjugated antibody
in the presence of substrate and chromogen the enzyme forms a colored deposit at the site of antibody-antigen binding.

For additional antibodies, refer to our Antibody Library.

HER2 by FISH (Vysis® PathVysion®)

Fri, 22 Jan 2010 20:58:26 GMT

Detection of HER2 gene amplification by fluorescence in situ hybridization may be demonstrated in different types of cancers. Interpretive criteria for tumors, other than breast cancer, has not been established.

Breast Cancer
Breast cancers with HER2 gene amplification are associated with poor prognosis and response to some types of chemotherapy and trastuzumab (Herceptin®).

Other Cancers
Studies have demonstrated that gastric cancer tumors with HER2 gene amplification are associated with poor prognosis and response to some types of chemotherapy and trastuzumab (Herceptin®).

Hematopathology Consultation Services

Fri, 22 Jan 2010 20:57:21 GMT

Consultation and report on referred material requiring preparation of slides.

CPT Code:
88323(1)

Consultation and report on referred slides prepared elsewhere.

CPT Code:
88321(1)

Flow Cytometry - interactiveFLOW

Fri, 22 Jan 2010 20:55:16 GMT

Technical component.

Our web-based approach to flow cytometry allows physicians to review and interpret histograms/scatter plots for diagnosis and classification of leukemias and lymphomas. Based on specimen type submitted and initial diagnosis (provided by referring physician), Genzyme will perform one of the following interactiveFLOW diagnostic panels:

interactiveFLOW Diagnostic Panels:

Comprehensive Leukemia/Lymphoma (for blood, bone marrow, spleen) CPT Codes:

88184, 88185 (units of 88185 vary depending on the number of antibodies tested)

CLL/SLL (for blood, bone marrow, spleen)

CPT Codes: 88184, 88185 (units of 88185 vary depending on the number of antibodies tested)

Lymphoma – Tissue/Fluid (for fresh tissue, CSF or body fluid) CPT Codes:

88184, 88185 (units of 88185 vary depending on the number of antibodies tested);

Plasma Cell Dyscrasia (Myeloma) (for blood, bone marrow, spleen) CPT Codes:

88184, 88185 (units of 88185 vary depending on the number of antibodies tested)

Plasma Cell Dyscrasia (Myeloma) (for blood, bone marrow, spleen) CPT Codes:

88184, 88185 (units of 88185 vary depending on the number of antibodies tested)

Flow Cytometry (Immunophenotyping by Flow)

Fri, 22 Jan 2010 20:52:17 GMT

Includes technical and professional components.

Characterization of hematopoietic cell populations, including leukemias and lymphomas using different cell surface and cytoplasmic antibodies. The technique allows for the lineage assignment of cells, maturational assessment of populations, detection of clonality, and detection of abnormal antigen expression of hematopoietic cells for diagnosis and monitoring of leukemia and lymphoma.

For additional antibodies, refer to our Antibody Library.

Comprehensive Leukemia/Lymphoma (for blood, bone marrow, spleen)

CPT Codes:

88184(1), 88185(23) (units of 88185 vary depending on the number of antibodies tested) and 88189(1)

CLL/SLL for Blood or Bone Marrow (includes ZAP 70, if indicated)

CPT Codes:

88184(1), 88185(17) (units of 88185 vary depending on the number of antibodies tested) and 88189(1)

Lymphoma - Tissue/Fluid (for fresh tissue, CSF or body fluid)

CPT Codes:

88184(1), 88185(18) (units of 88185 vary depending on the number of antibodies tested) and 88189(1)

Paroxysmal Nocturnal Hemoglobinuria (for blood or bone marrow)

CPT Codes:

88184(1), 88185(3) (units of 88185 vary depending on the number of antibodies tested) and 88187(1)

Plasma Cell Dyscrasia - (Myeloma; for blood, bone marrow, spleen)

CPT Codes:

88184(1), 88185(16) (units of 88185 vary depending on the number of antibodies tested) and 88189(1)

ZAP70 Expression – After CLL Diagnosis (for blood, bone marrow, fresh tissue or body fluid)

CPT Codes:

88184(1), 88185(3) (units of 88185 vary depending on the number of antibodies tested) and 88187(1)

FIP1L1-PDGFRa Analysis in Hypereosinophilic Syndrome (HES) Disorders

Fri, 22 Jan 2010 20:41:26 GMT

The FIP1L1-PDGFRa (Fip1-like-1 fused with platelet derived growth factor receptor alpha) FISH probe detects an interstitial deletion on chromosome 4q12 (including CHIC2) which results in the formation of the FIP1L1-PDGFRa fusion gene. This fusion leads to an activated tyrosine kinase receptor which can be inhibited by imatinib (Gleevec®).

The diagnosis of hypereosinophilic syndrome (HES) has been largely a process of exclusion and therefore unsatisfactory. Many clinical conditions may cause varying degrees of ypereosinophilia, including idiopathic hypereosinophilic syndrome, chronic eosinophilic leukemia and systemic mast cell disease with hypereosinophlia. In some patients these diseases are associated with the FIP1L1-PDGFRa fusion, and therefore respond well to treatment with imatinib (Gleevec®). Although HES is relatively rare, accurate diagnosis can identify patients who may be treated effectively.

ERCC1 Analysis in Non-Small Cell Lung Cancer

Fri, 22 Jan 2010 20:40:26 GMT

Genzyme’s ERCC1 analysis by IHC provides additional guidance in therapeutic treatment decisions for patients with non-small cell lung cancer (NSCLC).

Numerous studies have shown that evaluating the expression levels of excision repair cross-complementation group 1 (ERCC1) is important in the treatment decision making for patients with NSCLC. These results can help identify patients that may benefit from platinum-based chemotherapy.

Clinical Significance of ERCC1

Platinum-based doublet chemotherapy is currently considered standard of care in advanced NSCLC.
Despite great efforts to improve the survival of patients with NSCLC, a satisfactory survival level has not been achieved because the majority of patients present at an advanced stage and their tumors can exhibit an inherent resistance to chemotherapeutic reagents.
Recent studies have suggested that low expression levels of ERCC1 are related to a better response and survival benefit from cisplatin-based chemotherapy among patients with advanced NSCLC.
Recent studies have also found that patients with completely resected NSCLC and ERCC1-negative tumors appear to benefit from adjuvant cisplatin-based chemotherapy, whereas patients with ERCC1-positive tumors do not.

Information Sheet - ERCC1 Analysis - NSCLC (PDF)

Comprehensive Hematopathology Services

Fri, 22 Jan 2010 20:18:01 GMT

Consultation and report on referred material requiring preparation of slides.

Genzyme Pathologists will select profile based on medical necessity according to clinical information. Selecting Comprehensive Hematopathology Analysis authorizes Genzyme Pathologists to select appropriate reflex testing based on clinical information and initial morphologic, flow and cytogenetic studies.

Consultation and report on referred slides prepared elsewhere.

Colorectal Cancer – Profiles

Fri, 22 Jan 2010 20:17:11 GMT

Genzyme provides one of the most comprehensive and clinically verified colorectal cancer test menus available.

The two main genetic pathways leading to colorectal cancer have been identified as:

Tumor suppressor pathway: Relevant in 80% of colorectal cancers, including patients with sporadic and hereditary (APC) tumors.
Tumor mutator pathway (microsatellite instability): Relevant in 15-20% of sporadic colorectal cancers and in the identification of hereditary nonpolyposis colorectal cancer (HNPCC) patients.

p53 & TS
CPT Codes:
88360, 88342

p27, p53 & TS
CPT Codes:
88360(2), 88342

p27, p53, TS & DNA
CPT Codes:
88182, 88360(2), 88342

p53, TS & DNA
CPT Codes:
88182, 88360, 88342

hMLH-1/hMSH-2 (IHC)
CPT Code:
88342(2)

hMLH-1 / hMSH-2 / hMSH-6 (IHC)
CPT Code:
88342(3)

hMLH-1 / hMSH-2 / hMSH-6 / PMS2 (IHC)
CPT Code:
88342(4)

hMLH-1 / hMSH-2 (IHC) & MSI (PCR)
CPT Codes:
83890(2), 83900(1), 83901(8), 83907(1), 83909(2), 83912-26(1), 88342(2), 88381(1)

hMLH-1 / hMSH-2 / hMSH-6 (IHC) & MSI (PCR)
CPT Codes:
83890(2), 83900(1), 83901(8), 83907(1), 83909(2), 83912-26(1), 88342(3), 88381(1)

hMLH-1 / hMSH-2 / hMSH-6 / PMS2 (IHC) & MSI (PCR)
CPT Codes:
83890(2), 83900(1), 83901(8), 83907(1), 83909(2), 83912-26(1), 88342(4), 88381(1)

Microsatellite Instability (MSI) by PCR
CPT Codes:
83891(2), 83900(1), 83901(8), 83907(1), 83909(2), 83912-26(1), 88381(1)

Colorectal Cancer – Microsatellite Instability by PCR

Fri, 22 Jan 2010 20:16:12 GMT

Detects instability of microsatellite loci associated with a loss or suppression of DNA mismatch repair system. Detects instability in 5 mononucleotide markers.

Colorectal Cancer Markers by Immunohistochemistry (IHC)

Fri, 22 Jan 2010 20:15:15 GMT

Common colon and rectal cancer prognostic and therapeutic markers used include:

EGFR (pharmDX®)
Thymidylate Synthase (TS)
p53
p27
hMLH-1
hMSH-2
hMSH-6
PMS-2

These markers may be ordered individually or in various combinations at the physician’s request. For additional antibodies, refer to our Antibody Library.

Chromosome Analysis – Solid Tumor

Fri, 22 Jan 2010 20:04:57 GMT

Many solid tumors, especially soft tissue sarcomas, have specific structural chromosomal abnormalities that can be identified by karyotyping. Certain translocations are valuable aids in confirming or establishing the diagnosis of specific sarcoma subtypes when present. Cancer cytogenetic studies can also identify numerical and structural chromosomal abnormalities present in other solid tumors, particularly childhood tumors and brain tumors, which may be helpful in establishing a diagnosis and prognostic grouping that is important for subsequent therapeutic decisions.

Chromosome Analysis – Bone Marrow

Fri, 22 Jan 2010 20:04:09 GMT

Cytogenetic studies can identify numerical and structural chromosomal abnormalities that are diagnostic and/or prognostic for certain types of leukemia and lymphoma. Chromosome analysis is also used for monitoring treatment and predicting relapse. Leukemias and lymphomas can often be characterized by specific chromosome abnormalities. Chromosome analysis helps the physician to determine the precise diagnosis, prognosis and optimal treatment method. Since bone marrow is composed of actively dividing cells, usually the source of leukemic cells, and is more often involved by lymphomas, it is most often the specimen of choice for analysis.

Chromosome Analysis - Blood

Fri, 22 Jan 2010 20:03:09 GMT

Cytogenetic studies can identify numerical and structural chromosomal abnormalities that are diagnostic and/or prognostic for certain types of leukemia, lymphoma, myelodysplasia and myeloproliferative disorders. Chromosome analysis is also used for staging lymphoma, monitoring treatment and predicting relapse. Leukemias and lymphomas can often be characterized by specific chromosome abnormalities. Chromosome analysis aids the physician in determining the precise diagnosis, prognosis and optimal treatment method.

Oncology Testing

EGFR Mutation Analysis in Non-Small Cell Lung Cancer (NSCLC)

UGT1A1 Molecular Assay™

EGFR Amplification by FISH

ALK Gene Rearrangements by FISH in NSCLC

KRAS Mutation Analysis in Non-Small Cell Lung Cancer (NSCLC)

CLL-MRD (Minimal Residual Disease) Testing by Flow Cytometry

JAK2 Mutation Analysis in Myeloproliferative Disorders

IgVH Mutation Analysis in B-Cell Chronic Lymphocytic Leukemia (B-CLL)

KRAS Mutation Analysis in Colorectal Cancer (CRC)

ABL Kinase Domain Mutation Analysis in CML

p53 Mutation Analysis in B-Cell Chronic Lymphocytic Leukemia (B-CLL)

Immunohistochemistry (IHC) - Complex Tumor Analysis

Breast Cancer - Profiles

Bone Marrow Morphology - Complete Studies

cIg (Cytoplasmic Immunoglobulin) FISH for Multiple Myeloma

BCR/ABL - t(9;22) by RT-PCR (Quantitative)

UroVysion® FISH

Peripheral Blood Smear Interpretation

Pathology Consultation Services

Inv(16) RT-PCR

FISH (Fluorescence In Situ Hybridization)

Colorectal Cancer – DNA Ploidy/S-Phase Analysis by Flow Cytometry

Breast Cancer Markers by Immunohistochemistry (IHC)

Breast Cancer – DNA Ploidy/S-Phase Analysis by Flow Cytometry

Bone Marrow - Smear Interpretation

Bone Marrow Morphology - Cytochemistry

B-Cell Gene Rearrangements by PCR

AML1/ETO - t(8;21) by RT-PCR

T-Cell Gene Rearrangements by PCR

PML/RARA - t(15;17) by RT-PCR

Morphology – Special Stains

Molar Pregnancy Evaluation (p57 and DNA Ploidy/S-Phase)

Micrometastases – Melanoma/Carcinoma in Lymph Node

Micrometastases – Bone Marrow/Lymph Node/Peripheral Blood/Stem Cell Products

KRAS Mutation Analysis in Other Cancers

iScope™ Virtual Microscopy

Infectious Agents by In Situ Hybridization (ISH)

Infectious Agents by Immunohistochemistry (IHC)

Immunohistochemistry (IHC) - Individual Markers

Immunohistochemistry (IHC)

HER2 by FISH (Vysis® PathVysion®)

Hematopathology Consultation Services

Flow Cytometry - interactiveFLOW

Flow Cytometry (Immunophenotyping by Flow)

FIP1L1-PDGFRa Analysis in Hypereosinophilic Syndrome (HES) Disorders

ERCC1 Analysis in Non-Small Cell Lung Cancer

Comprehensive Hematopathology Services

Colorectal Cancer – Profiles

Colorectal Cancer – Microsatellite Instability by PCR

Colorectal Cancer Markers by Immunohistochemistry (IHC)

Chromosome Analysis – Solid Tumor

Chromosome Analysis – Bone Marrow

Chromosome Analysis - Blood

iScope^™ Virtual Microscopy