Division of Molecular Pathology | James Molecular Laboratory
Targeted Hematologic NGS Assays:
… with gene set selected based on referring indication:
- CLL & low-grade B-cell neoplasms
- High-grade B-cell neoplasms
- T-cell neoplasms
Assays for BTK Inhibitor Monitoring:
Bruton tyrosine kinase (BTK) inhibitors have revolutionized therapy for CLL and other B-cell neoplasms. Resistance to the agents is developed by mutations in BTK-PLCG2 or other linked genes. We offer several assays to type resistance including:
- Highly sensitive digital droplet PCR for the BTK C481 site
- BTK-PLCG2 deep sequencing of the entire coding regions
- Profiling of B-cell receptor pathway components
Our research and development program in this area focuses on differences in the genomic resistance profiles to next generation inhibitors and combination therapies.
Allele-specific SMN1/SMN2 DNA Sequencing:
As a leader in SMA diagnostics, our laboratory has validated a long-range allele-specific approach for identifying intragenic mutations in SMN1. This test, in combination with our quantitative multiplex PCR (qPCR) assay for SMN1 and SMN2 copy number determination, allows our laboratory to deliver an extensive suite of testing for the molecular diagnosis of SMA.
Genomics on Pancreatic Cyst Fluid and Bile Duct Lesions:
Pancreatic fluid, ERCP/SpyGlass biopsies and bile duct brushings represent challenging sample types for genomic evaluation. Our laboratory has validated extraction and analysis methods to detect mutations in limited and dilute samples.
Our research and development program in this area focuses on improved detection of early neoplastic proliferations in lesions that may lack common mutations.