Molecular Pathology Laboratory Network

Pharmacogenetics, the study of therapeutic drugs and their interactions with an individual’s unique genetic makeup, is ushering in an era of companion diagnostics and more personalized medicine. Click here for a list of targeted drugs and biomarker assays.

ABL Gene Mutation Analysis

In patients with Philadelphia (Ph) chromosome-positive chronic myeloid leukemia (CML), the ABL gene mutation assay developed by MPLN detects an individual's resistence to the kinase inhibitor, Gleevec®.

BCR/ABL fusion gene transcripts

Molecular detection and monitoring of the BCR/ABL fusion gene transcripts (e13a2, e14a2, e1a2) in patients with a Philadelphia (t[(9;22)(q34;q11.2)]) positive leukemia. The primary clinical utilities for BCR/ABL quantitative PCR testing include (1) identfication of fusion gene transcript and determination of baseline level of BCR-ABL expression in newly diagnosed CML patients, and (2) the monitoring of patients for molecular evidence of minimal residual disease (MRD) or molecular remission in response to tyrosine kinase inhibitor (TKI) therapy or allogeneic stem cell transplantation.

BRAF Mutation

BRAF testing identifies the subset of colorectal cancer patients who do not have a mutated KRAS gene, yet still do not respond to EGFR therapy. Testing for KRAS and BRAF V600E mutations provides a comprehensive analysis when evaluating a patient for anti-EGFR therapy.

EGFR Mutation Comprehensive Analysis Exon 18-21

EGFR mutation is significantly associated with response to gefitinib and erlotinib and prolonged survival in NSCLC patients.

KRAS Mutation

KRAS testing is used to identify patients with colorectal cancer who are most likely to show limited clinical reponse to EGFR inhibitors cetuximab (Erbitux®) and panitumumab (Vectibix®).

HER2 Amplification

HER2 gene amplification detected by FISH for Herceptin qualification was the first companion diagnostic identified in Breast Cancer. Herceptin is also now approved for treatment of HER2 positive advanced gastric or gastro-oesophageal junction cancer.

UGT1A1 Genotyping

The Invader® UGT1A1 Molecular Assay (Hologic®) is a one-time screening test for newly-diagnosed colorectal cancer patients used to detect variations in the UGT1A1 gene that influences an individual's ability to metabolize irinotecan (Camptosar®).

Warfarin Sensitivity Test

The Warfarin Sensitivity Test (Verigene® by Nanosphere, Inc.) detects and genotypes the *2 and *3 alleles of the CYP2C9 gene and a single polymorphism (1173C>T) in the VKORC1 gene to assist physicians with prescribing the correct dosage of warfarin (Coumadin®).

For more information about our laboratory tests and services, contact one of our service specialists at 800-932-2943.