MCL

The standard test for the diagnosis of narcolepsy is the multiple sleep latency test (MSLT). The MSLT is a complex test to perform as well as to interpret. The orexin-A/hypocretin-1 test is a sensitive and specific alternative to the MSLT to diagnose type 1 narcolepsy.

The presence NTRK gene fusions is one of the eligibility requirements for the recently FDA-approved therapy Vitrakvi (larotrectinib), a therapy indicated in adult and pediatric patients with solid tumors regardless of the type of tumor. NTRK gene fusions have been described in many cancers at various frequencies including common cancers such as lung, thyroid, and colorectal cancers.

Cytomegalovirus, or CMV, is a common cause of disease in the transplant population. In some patients who are diagnosed with CMV and are on antiviral treatment for infections, the virus may develop resistance to the drugs. This “Hot Topic” will provide an overview of a new test developed by Mayo Clinic Laboratories, which uses next-generation sequencing technology to identify mutations in the genome of CMV that may be associated with antiviral resistance.

Joseph Yao, M.D., gives an overview of this new test available through Mayo Clinic Laboratories. He discusses when this testing should be ordered, how this testing improves upon other testing approaches, and what clinical action can be taken due to the results of this testing.

Neuro-oncology is a complex field undergoing rapid changes with the advancement and evolution of sophisticated genetic testing. Evidence continues to grow in support of broad molecular and cytogenetic analysis for patients with brain tumors.

The diagnosis of mitochondrial disease can be particularly challenging as the presentation can occur at any age, involve virtually any organ system, and be associated with widely varying severities. Due to the considerable overlap in the clinical phenotypes of various mitochondrial disorders, it is often difficult to distinguish these specific inherited disorders without genetic testing.

In April 2019, Mayo Clinic Laboratories announced nine new tests along with numerous reference value changes, obsolete tests, and algorithm changes.

The exponential increase in the number of diagnostic tests available to physicians (in dermatopathology as well as other medical specialties) can be overwhelming, according to a new multi-institutional study co-published in the Journal of Cutaneous Pathology and Journal of the American Academy of Dermatology.

Joshua Bornhorst, Ph.D., gives an overview of the new Copeptin test available through Mayo Clinic Laboratories. He discusses when this testing should be ordered, how this testing improves upon previous testing approaches, and what clinical action can be taken due to the results of this testing.

On Tuesday, April 9, Mayo Clinic Laboratories released an update to the Test Updates function on mayocliniclabs.com.

In this month’s “Hot Topic,” Julia Lehman, M.D., will discuss a rare and potentially fatal mucocutaneous blistering disease that is often associated with an underlying malignancy, called paraneoplastic pemphigus. She will also discuss the specialized tissue and serum testing that is required to establish the diagnosis.

In March 2019, Mayo Clinic Laboratories announced six new tests along with numerous reference value changes, obsolete tests, and algorithm changes.

In this month’s “Hot Topic,” Rajiv Pruthi, M.B.B.S., will discuss different types of hemophilia along with their pathologic basis. He will also cover various types of factor assays such as one stage and chromogenic factor assays for diagnosis and their role in management of hemophilia.