A Test in Focus

Puanani Hopson, D.O., a Mayo Clinic pediatric gastroenterologist, explains the pancreatic elastase test — a screening test that can be useful when symptoms point to the possibility of exocrine pancreatic insufficiency. Dr. Hopson reviews when this test should be ordered, how it compares to other test options, and how its results can guide further evaluation.

Xinjie Xu, Ph.D., co-director of Mayo's Genetics and Genomics Laboratory, explains Mayo Clinic Laboratories' updated approach to testing for risk stratification of patients newly diagnosed with plasma cell proliferative disorders, such as multiple myeloma. Based on recently published data, the new testing algorithms focus on use of fluorescence in situ hybridization (FISH) panels, rather than chromosome studies.

Nicole Boczek, Ph.D., co-director of Mayo Clinic's Genetics and Genomics Laboratory, explains the innovative new hereditary hearing loss panel now available through Mayo Clinic Laboratories. This comprehensive panel analyzes 160 genes associated with hereditary hearing loss, assessing for both nonsyndromic hearing loss, as well as syndromic hearing loss, which can be difficult to recognize clinically.

Joshua Bornhorst, Ph.D., associate director of Mayo Clinic's Clinical Immunoassay Lab, explains how humans can develop an allergy to the alpha-gal molecule, and he describes a new allergen antibody test that can be used to detect it. Dr. Bornhorst also reviews other tests that should be used in conjunction with alpha-gal testing to accurately identify the scope and underlying cause of the allergy.

Min Shi, M.D., Ph.D., a hematologist and co-director of Mayo Clinic's Flow Cytometry Laboratory, explains recent updates to the B-cell lymphoblastic leukemia minimal residual disease flow cytometry assay. This test is used to identify minimal residual disease in patients with a previously confirmed diagnosis of B-cell lymphoblastic leukemia who have completed chemotherapy, immunotherapy or bone marrow transplantation.

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.