The Region 4 Stork (R4S) Collaborative Project, Part 4a: High-Throughput Data Entry Portals – Tool Runner
In part 4 of this 6-part “Hot Topic” series, Piero Rinaldo, M.D., Ph.D., discusses high-throughput data entry portals. To improve download time, part 4 has been separated into 2 subjects: 4A focuses on the Tool Runner tool, while 4B focuses on the All Conditions tool.
In part 3 of this 6-part “Hot Topic” series, Piero Rinaldo, M.D., Ph.D., explains how to use the post-analytical interpretive tools in newborn screening.
In Part 2 of this 6-part “Hot Topic” series, Piero Rinaldo, M.D., Ph.D., demonstrates the use of first generation productivity tools in newborn screening.
The Region 4 Stork (R4S) Collaborative Project, Part 1: Laboratory Quality Improvement of Newborn Screening
In Part 1 of this 6-part “Hot Topic” series, Piero Rinaldo, M.D., Ph.D., introduces the concept of disease ranges for improved identification of abnormal newborn screening results.
The American Cancer Society estimates that there will be 102,480 new cases of colon cancer diagnosed in 2013, with hereditary colon cancer syndromes accounting for approximately 10 percent of those cases. It's important to identify the hereditary colon cancer cases because of the important ramifications for the affected individual and their family members.
Mayo Medical Laboratories is pleased to announce the availability of our Hereditary Colon Cancer Multi-Gene Panel. This panel uses next generation sequencing (NGS), array comparative genomic hybridization (aCGH), and other technologies to evaluate for germline mutations in 17 genes known to be associated with an increased risk for colon cancer development.
CDG can present with a broad clinical spectrum from developmental delay to multiorgan involvement (eg, liver disease, developmental delay, failure to thrive, chronic diarrhea, abnormal subcutaneous fat distribution, retinitis pigmentosa, cutis laxa, etc.).
A common ordering error among molecular tests is ordering a diagnostic test when a known-mutation test is indicated, and vice versa. Mayo Medical Laboratories offers tests to either diagnose the disease or determine if a previously identified genetic abnormality is present in a family member.
Test Utilization and Appropriate Test Orders: The Role of the Genetic Counselor [Utilization Spotlight]
Today’s clinical laboratory can offer a wide expanse of various genetic tests that can be requested by a clinician. The large repertoire of genetic testing services offered by Mayo Medical Laboratories can make selecting the appropriate test complicated. Mayo Clinic’s laboratory genetic counselors are available to help physicians select the most appropriate tests for their patients and reduce unnecessary testing.