Miraca Life Sciences Now Offers Genetic Testing Protocol for Chronic Myelogenous Leukemia (CML)

Sophisticated analytical sensitivity of Inform Diagnostics RT-PCR test process benefits hematology-oncologists to confirm CML diagnosis, identify treatment resistant BCR-ABL fusion transcripts in patients and monitor disease.

Physicians treating patients with chronic myelogenous leukemia (CML) can now optimize their patient outcomes with the Inform Diagnostics BCR-ABL1 major quantitative testing protocol. The company, noted for their personalized medicine approach says this highly sensitive test added to Inform Diagnostics’s genomic laboratory services enhances their existing test protocols for hematology-oncology. A sophisticated tool for confirming CML diagnosis, the Inform Diagnostics BCR-ABL1 protocol assists physicians in guiding therapy, sourcing their patient’s drug resistance, and monitoring the disease progression of CML patients.

According to Dr. Michael Miller, Inform Diagnostics Director of Hematology/Oncology, the test provides important benefit to clinical care. “Determining the amount and type of genetic variability is a critical link in both confirming CML diagnosis, and to help physicians guide and assess treatment response to tyrosine kinase inhibitor therapy (TKI).”

By using a quantitative, real-time polymerase chain reaction (RT-PCR) test process, Miller says Inform Diagnostics provides clinicians with reports of exceptional sensitivity, surpassing tests performed with classical cytogenetics or fluorescence in situ hybridization (FISH).

The source of CML was identified more than fifty years ago when researchers discovered a genetic abnormality arising from the exchange of genetic material between genes 9 and 22. This abnormal fusion, between the breakpoint cluster region (BCR) gene and the Abelson leukemia virus (ABL) protooncogene, produces an abnormal tyrosine kinase protein that affects normal cell division and DNA repair. This fusion also occurs in a minor population of precursor B-lymphoblastic leukemias (B-ALL).

Miller says therapies were then developed to successfully target and suppress the abnormal BCR-ABL1 tyrosine kinase activity. These benchmark treatments changed the course of the disease for patients, reversing it from “virtually a death sentence within a few years of diagnosis, to a near-normal life expectancy.”

Within the last decade, however, Miller says researchers have identified additional transcript mutations that are responsible for CML patient resistance to TKI therapies. “Finding the presence of these resistant, low-level transcripts requires very sensitive test protocols. The quantitative RT-PCR assay has been shown to allow detection of approximately one (1) BCR-ABL1 transcript in a background of 100,000 normal transcripts, or 0.001% on the international scale.”

The test is performed from total RNA, isolated from patient specimens of peripheral blood or bone marrow aspirate, and is subjected to quantitative RT-PCR process. This process then amplifies the DNA to increase sensitivity and reports results as a percent ratio of BCR-ABL1/ABL1 transcripts, after conversion to the international scale. Conversion to the international scale, Miller says, “gives clinicians the benefit of comparing results from laboratories using different methods.”

In the clinical practice, the Inform Diagnostics BCR-ABL1 molecular test protocol can help hematology-oncologists diagnose early stages of CML, and also provide the quantitative picture of the CML patient’s genetic variability. As a monitoring tool during remission, the test provides physicians important evidence both to the amount of genetic variance present in the blood, and the genetic transcripts potentially causing resistance to therapy.

Inform Diagnostics says the test does not detect the less frequently occurring p190 or p230 transcripts. Results should be interpreted in the context of the clinical and morphological findings when diagnosing CML or B-ALL.

About Inform Diagnostics
Serving more than 3,500 patients each day, Inform Diagnostics is a leader in providing an academic-caliber pathology laboratory with diagnostic services in the fields of dermatology, gastroenterology, hematology and urology. Building upon our experience with health IT, we also offer accessible technology solutions to assist healthcare professionals as they work towards accordance with Meaningful Use initiatives.

Inform Diagnostics, a wholly-owned subsidiary of Japan-based Inform Diagnostics Holdings Inc., employs a talented team of leading pathologists, histologists, lab technicians, technology consultants, and other medical professionals — all driven to help provide the highest and most up-to-date levels of diagnostic quality, enhanced workflow and practice solutions possible. It is part of our commitment: not only to scientific excellence, but to patients and practices.

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