Providing a genetic evaluation for patients with a personal or family history suggestive of hereditary hemorrhagic telangiectasia (HHT), cerebral cavernous malformation (CCM), capillary malformation-arteriovenous malformation syndrome...
GNHTC - Overview: Hereditary Thrombocytopenia Gene Panel, Next-Generation Sequencing, Varies
Evaluating hereditary thrombocytopenia disorders in patients with a personal or family history suggestive of a hereditary thrombocytopenia disorder Diagnosing hereditary thrombocytopenia disorders for patients in whom phenotypic testing is...
SCIDP - Overview: Severe Combined Immunodeficiency (SCID) Gene Panel, Varies
Establishing a diagnosis of a severe combined immunodeficiency (SCID) associated with known causal genes Identifying variants within genes known to be associated with SCID, allowing for predictive testing of at-risk family members and/or...
WGSR - Overview: Whole Genome Sequencing Reanalysis, Varies
Identifying a diagnosis or additional variants associated with the phenotype in patients who previously have had a negative or inconclusive whole genome sequencing test Reanalyzing whole genome sequencing data when a patient (proband)...
BALMF - Overview: B-Cell Acute Lymphoblastic Leukemia/Lymphoma (ALL), Specified FISH, Varies
Detecting a neoplastic clone associated with recurrent common chromosome abnormalities associated with B-cell acute lymphoblastic leukemia/lymphoma (B-ALL/LBL) and Philadelphia chromosome-like acute lymphoblastic leukemia (Ph-like ALL)...
GNPLT - Overview: Platelet Disorders, Comprehensive Gene Panel, Next-Generation Sequencing, Varies
Evaluating hereditary platelet disorders in patients with a personal or family history suggestive of a hereditary platelet disorder Diagnosing hereditary platelet disorders for patients in whom phenotypic testing is nondiagnostic, but...
WESDX - Overview: Whole Exome Sequencing for Hereditary Disorders, Varies
Serving as a first-tier test to identify a molecular diagnosis in patients with suspected genetic disorders, which can allow for: -Better understanding of the natural history/prognosis -Targeted management (anticipatory guidance, management...
GIP - Overview: Gastrointestinal Pathogen Panel, PCR, Feces
Rapid detection of gastrointestinal infections caused by: -Campylobacter species (Campylobacter jejuni/Campylobacter coli/Campylobacter upsaliensis) -Clostridioides difficile toxin A/B -Plesiomonas shigelloides -Salmonella species -Vibrio...
WGSDX - Overview: Whole Genome Sequencing for Hereditary Disorders, Varies
Serving as a first-tier test to identify a molecular diagnosis in patients with suspected genetic disorders, which can allow for: -Better understanding of the natural history/prognosis -Targeted management (anticipatory guidance, management...
CMMPP - Overview: Cobalamin, Methionine, and Methylmalonic Acid Pathways, Plasma
Screening and monitoring patients suspected of or confirmed with an inherited disorder of methionine, cobalamin, or propionate metabolism using plasma specimens Evaluating individuals with suspected deficiency of vitamin B12
Activity Metrics Dashboard - Insights
We are excited to share that the Activity Metrics Dashboard is now live on mayocliniclabs.com. We heard your feedback and created these reports to provide a more integrated, intuitive and customized experience...
https://news.mayocliniclabs.com/file-activity-metrics-user-guide/
Activity Metrics User’s Guide Release 1.21 Page 2 9/26/24 Activity Metrics User’s Guide TABLE OF CONTENTS Introduction ............................................................................
https://news.mayocliniclabs.com/file-activity-metrics-qrg/
Activity Metrics Quick Reference Guide 800-533-1710 mayocliniclabs.com Effective Date: 9/26/2024 Log in to Activity Metrics 1. On MayoClinicLabs.com, at top right, click My Dashboard. 2. Enter...
Active Learning: Connecting Teachers and Learners - Insights
Specialist in the Department of Laboratory Medicine and Pathology at Mayo Clinic, discusses how to use active learning to better connect teachers and learners....
Disaccharidase Activity Panel [Test in Focus] - Insights
Pua Hopson, D.O., discusses Mayo Clinic Labs’ new disaccharidase activity panel, which measures levels of five digestive enzymes to identify deficiencies that cause carbohydrate maldigestion and can lead...disease or inflammatory bowel...