A Test in Focus

William Sukov, M.D., provides an overview of the MDM2 gene amplification assay — a test that looks for amplification of the MDM2 gene region on chromosome 12q. He reviews when this test should be ordered, how it compares to other test options, and how its results can affect patient care.

Lynch syndrome (also known as hereditary nonpolyposis colorectal cancer or HNPCC) is an autosomal dominant hereditary cancer syndrome associated with germline mutations in the mismatch repair genes, MLH1, MSH2, MSH6, and PMS2. Deletions within the 3' end of the EPCAM gene, which lead to inactivation of the MSH2 promotor, have also been associated with Lynch syndrome.

Divyanshu (Div), Dubey, M.B.B.S, gives an overview of the new Autoimmune Gastrointestinal Dysmotility Evaluation available through Mayo Clinic Laboratories. He discusses when this testing should be ordered, how this testing compares to previous testing approaches, and what clinical action can be taken due to the results of this testing.

Andrew McKeon, M.B., B.Ch., M.D, gives an overview of the new glycine receptor antibody test available through Mayo Clinic Laboratories. He discusses when this testing should be ordered, how this testing compares to other testing approaches, and what clinical action can be taken due to the results of this testing.

Horatiu Olteanu, M.D., Ph.D., gives an overview of the new T-cell receptor (TCR) β-chain constant region (TRBC1) flow cytometry marker, which is now included in Mayo Clinic Laboratories' routine diagnostic T-cell flow cytometry panel. He discusses when this testing should be ordered, how the addition of TCRBC1 compares to previous testing approaches, and how this marker can assist ordering physicians.

Maria Willrich, Ph.D., gives an overview of the new Multiple Sclerosis Profile available through Mayo Clinic Laboratories. She discusses when this testing should be ordered, how this testing compares to previous testing approaches, and what clinical action can be taken due to the results of this testing.

Nancy Wengenack, Ph.D. gives an overview of this test available through Mayo Clinic Laboratories. She discusses when this testing should be ordered, how this testing compares to other testing approaches, and what clinical action can be taken due to the results of this testing.

Kevin Halling, M.D., gives an overview of the lung cancer NGS panel available through Mayo Clinic Laboratories. He discusses when this testing should be ordered, how this testing compares to previous testing approaches, and what clinical action can be taken due to the results of this testing.

Andre Oliveira, M.D., Ph.D., gives an overview of this testing available through Mayo Clinic Laboratories. He discusses when this testing should be ordered, how this testing compares to previous testing approaches, and what clinical action can be taken due to the results of this testing.

Rajiv Pruthi, M.B.B.S., gives an overview of this testing available through Mayo Clinic Laboratories. He discusses when this testing should be ordered, how this testing compares to previous testing approaches, and what clinical action can be taken due to the results of this testing.

Currently the diagnosis of probable Alzheimer disease (AD) is made based on clinical symptoms, largely by the exclusion of other causes of dementia, with postmortem evidence of AD pathology required to confirm the diagnosis. Two common neuropathologic features found in the brains of patients with AD are the presence of plaques composed of beta-amyloid (Abeta) peptides and intracellular neurofibrillary tangles containing hyperphosphorylated Tau (tubulin-associated unit) proteins.

Nancy Wengenack, Ph.D. gives an overview of this test available through Mayo Clinic Laboratories. She discusses when this testing should be ordered, how this testing compares to other testing approaches, and what clinical action can be taken due to the results of this testing.