Pathology test directory

 

RECENT ADDITIONS:

COMING SOON

EGFR mutation analysis
JAK2 V617F mutation, exon 12 JAK2 mutation
Melanoma/FISH panel
Urothelial cell/bladder cancer FISH panel
Prostate FISH panel
Cystic fibrosis mutation analysis
CLL panel by FISH analysis – includes 11q23, chromosome 13, 13q
NPM1 for AML

BCR-ABL ANALYSIS

Real-time quantitative polymerase chain reaction (RQ-PCR) is used for patients with Philadelphia chromosome-positive chronic myeloid leukemia (CML). TheBCR-ABL assay monitors disease burden in patients following molecular targeted therapies (i.e. t(9;22 BCR/ABL post-Gleevec),  This assay is performed using Cepheid’s GeneXpert rtPCR technology.

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KRAS-BRAF TESTING

KRAS mutation analysis is used to identify patients with colorectal cancer who are less likely to show a clinical response to EGFR inhibitors such as cetuximab (Erbitux®) and panitumumab (Vectibix®).

Testing for KRAS mutations provides a comprehensive analysis when evaluating a patient for anti-EGFR therapy. The National Comprehensive Cancer Network (NCCN) recommends KRAS mutation testing before starting EGFR-targeted therapy in both metastatic colorectal cancer and advanced non-small cell lung cancer.

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COAGULATION PANEL

The thrombophilia risk panel is performed on patients suspected of having inherited risks for hypercoagulation.  Testing is performed using a multiplex platform that tests for all four thrombophilia related genetic markers: Factor V Leiden (R506Q mutation), Factor II/Prothrombin (G20210A mutation) and methylene tetrahydrofolate reductase (MTHFR) (C677T and A1298C mutations).

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CONVENTIONAL CYTOGENETICS

DeltaMDx provides comprehensive cytogenetic analysis of neoplastic blood and bone marrow using traditional chromosome banding techniques. Conventional cytogenetic analysis requires metaphase cell preparations derived from various culture techniques for the detection of cell populations containing aberrant chromosome structure and/or copy number. Some examples include translocations, inversions, deletions, and duplications which have all been found to have implications in cancer development. The analysis is facilitated by the use of high-end Leica microscopes and state-of-the art imaging software in conjunction with the Genetix Slide Loader (GSL) 120 which is capable of hands-off scanning and capturing of cytogenetic slides providing for faster turn around times.

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MOLECULAR CYTOGENETICS ( FISH )

Fluorescence in situ hybridization (FISH) utilizes fluorescently-labeled DNA probes to defined chromosomal sequences that are known to have translocation breakpoint cluster regions or centromeric sequences. This allows us to identify translocations, deletions, and amplifications of genes as well as changes in chromosome number. FISH can be applied to either metaphase or interphase (non-dividing) cell preparations. FISH analyses allow visualization of an abnormal chromosomal complement that otherwise may have gone undetected (e.g., in a hematologic population where cells are not dividing or in a patient who has a cryptic translocation or microdeletion). FISH can be performed for specific abnormalities such as translocation breakpoints in leukemia/lymphoma [t(9;22), t(15;17), inv(16), t(14;18), etc.]

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METHYLENETETRAHYDRAFOLATE REDUCTASE (MTHFR) C667T AND A1298C MUTATIONS:

Methylenetetrahydrafolate Reductase (MTHFR) mutations are associated with increased risk of arterial and venous thrombosis and atherosclerosis due to increased plasma levels of homocysteine.  The expression of MTHFR mutations is impacted by elevated homocysteine levels that may be hereditary (due to mutations in these pathways) or acquired (due to deficiencies of vitamins B12, B6, or folate, renal failure, carcinoma, hypothyroidism, or medications). MTHFR mutations may interact with other inherited risk factors for thrombosis (e.g. factor V Leiden), however, coinheritance does not further increase the thrombotic risk associated with factor V Leiden.

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FACTOR II PROTHROMBIN G20210A MUTATION

Prothrombin Factor II mutation increases prothrombin levels and is associated with an increased risk of thrombosis, with heterozygotes having a 2-4 fold increase in risk of thrombosis. The expression of Factor II Prothrombin thrombophilia is impacted by coexisting genetic thrombophilic disorders (malignancy, factor V Leiden, antithrombin II deficiency, protein C deficiency, protein S deficiency, hyperhomocysteinemia, high factor VIII levels), and circumstances including: pregnancy, oral contraceptive use, hormone replacement therapy, selective estrogen receptor modulators, travel, central venous catheters, surgery, transplantation and advanced age.

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FACTOR V LEIDEN (F5) R506Q MUTATION:

Factor V Leiden mutation is the most common cause of inherited thrombophilia and accounts for over 90 percent of protein c resistance. The expression of Factor V Leiden thrombophilia is impacted by coexisting genetic thrombophilic disorders (malignancy, hyperhomocysteinemia, high factor VIII levels), and circumstances including: pregnancy, oral contraceptive use, hormone replacement therapy, selective strogen receptor modulators, travel, central venous catheters, surgery, transplantation and advanced age.

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