GenPath’s molecular testing lab can be properly labeled a Center of Excellence. Our lab has validated, in-house, all relevant technologies in genetic testing. Clinical necessity always drives our testing methodology and thus corners are not cut in order to save money or for convenience. We are confident that an ordering oncologist receives the most advanced technology when ordering from GenPath.
For a complete listing of PCR testing related to hematopathology diseases please select the Peripheral Blood Test Reference in the available downloads above.
PCR is utilized in a wide variety of cancers when a specific mutational hotspot requires interrogation. Often the diagnosis has been made prior to PCR analysis and the test ordered is utilized for treatment selection and/or prognostics. The following are examples:
EGFR for indication of erlotinib
KRAS for poor prognosis
KRAS for indication of cetuximab and panitumumab
UGT1A1 for irinotecan toxicity
5-FU for drug toxicities
Diagnosis of Myeloproliferative Neoplasms often utilizes PCR testing to aid in diagnosis:
JAK2 V617F for Polycythemia Vera
MPL515 for Myelofibrosis
JAK2 Exon 12 for Polycythemia Vera
RT-PCR is a more sensitive version of PCR that is used to amplify and simultaneously quantify a targeted DNA molecule. The technique is utilized in the following disease states:
ERCC1 quantification to determine a patient’s response to cisplatin based therapies.
Chronic Myeloid Leukemia (CML):
BCR/ABL quantification to detect patient’s response to imatinib and/or 2nd generation tyrosine kinase inhibitors (TKI). BCR/ABL by RT-PCR is also often used to aid the diagnosis of CML. See sample graph below taken from our sample report in the download section.
ABL kinase detection of mutations that confer resistance to tyrosine kinase inhibitors. Our RT-PCR test for ABL kinase detects multiple mutations including the common T315i mutation that cannot be overcome by 1st or 2nd generation TKIs.
Acute Myeloid Leukemia (AML):
t(15;17) is utilized to diagnose patients with AML-M3 (PML/RARA) that generally have a more favorable prognosis and require specific therapies.
GenPath utilizes a custom-designed microarray (GenArray) that scans the entire genome for copy number variances in hematological diseases, specifically CLL, MDS and Myeloma. Our Array CGH contains 64,000 oligonucleotide probes placed with specific density in cancer regions (approx 1kb), resulting in higher sensitivity and greater resolution than traditional cytogenetics for unbalanced chromosomal translocations.
Array CGH technology overcomes the limits of traditional technologies such as karyotyping and FISH. The GenArray does not rely on metaphase chromosomes, therefore the DNA sample can be obtained from cells in any stage of growth. In addition, FISH probes have limited coverage governed by the size of the probe whereas the GenArray scans the entire genome for copy number variances.
For more information about GenPath, please call us at 800-627-1479 or visit our Contact Us page.