Molecular Pathology Clinical Services 

Since its establishment in 2001, the Molecular Pathology Laboratory continues to rapidly expand its test menu and implements 5-10 new tests each year. Our laboratory performs approximately 20,000 diagnostic molecular tests annually, using technologies such as real-time polymerase chain reaction (PCR), Amplification Refractory Mutation System (ARMS) PCR, Invader assay, capillary gel electrophoresis, next-generation pyrosequencing, Affymetrix microarray analysis, Luminex multiplex genotyping, and automated DNA extraction. 

The Molecular Pathology Laboratory provides a full range of molecular test services, including the following:

  • Oncology: Quantitative BCR-ABL1 assay for chronic myelogenous leukemia, EGFR and KRAS mutation analysis for lung and colorectal carcinomas; BRAF mutation analysis for melanoma and colorectal carcinoma; JAK2 and MPL mutation analysis for myeloproliferative disorders and NPM1 for acute myeloid leukemia; B-Cell and T-Cell gene rearrangement
  • Genetics and pharmacogenetics: Thrombophilia including F5 c.1601G>A (p.Arg534Gln) (aka Factor V Leiden) and F2 c.*97G>A (aka Factor II 20210G>A), hereditary hemochromatosis, UGT1A1*28 allele, Celiac Disease genotyping, and IL28B genotyping
  • Infectious diseases: HPV genotyping for cervical and head and neck squamous cell carcinomas and EBV viral load for post-transplant lymphoproliferative disorder (PTLD
  • Transplant monitoring: chimerism (engraftment analysis) 

If you need a test that is not currently offered by the Molecular Pathology Laboratory, please contact us and we may be able to work with you to develop the test at Mount Sinai.