FABRZ - Overview: Fabry Disease, Full Gene Analysis, Varies
Confirmation of a diagnosis of classic or variant Fabry disease in affected males with reduced alpha- galactosidase A enzyme activity Carrier or diagnostic testing for asymptomatic or symptomatic females, respectively
POXP - Overview: Fatty Acid Profile, Peroxisomal (C22-C26), Plasma
Evaluating patients with possible peroxisomal disorders, including peroxisomal biogenesis disorders, X-linked adrenoleukodystrophy, and Refsum disease using plasma specimens Aiding in the assessment of peroxisomal function
LMPP - Overview: Lipoprotein Metabolism Profile, Serum
Diagnosing dyslipoproteinemia Quantifying cholesterol and triglycerides in very-low-density lipoprotein, low-density lipoprotein (LDL), high-density lipoproteins (HDL), and chylomicrons Identifying lipoprotein-X Classifying...
Risk stratification of patients with treated multiple myeloma, which can assist in determining treatment and management decisions Risk stratification of patients with newly diagnosed multiple myeloma
MLH1 - Overview: MLH1 Immunostain, Technical Component Only
Evaluation of tumor tissue to identify patients at high risk for having hereditary nonpolyposis colorectal cancer, also known as Lynch syndrome Evaluation of tumor tissue to identify patients at risk for having hereditary endometrial...
MSH2 - Overview: MSH2 Immunostain, Technical Component Only
Identifying patients at high risk for having hereditary nonpolyposis colorectal cancer, also known as Lynch syndrome, in an immunopanel including MSH2 and other mismatch repair markers Evaluation of tumor tissue to identify patients at...
OXYBS - Overview: Oxysterols, Blood Spot
Investigating a possible diagnosis of Niemann-Pick disease types A, B, or C using blood spot specimens Monitoring of individuals with Niemann-Pick disease type C This test is not useful for the identification of carriers.
PCMSP - Overview: Postmortem Inherited Congenital Myasthenia Syndrome Gene Panel, Tissue
Identifying variants within genes known to be associated with congenital myasthenic syndrome, allowing for predictive testing of at-risk family members Providing a comprehensive postmortem genetic evaluation in the setting of a congenital...
2HGA - Overview: 2-Hydroxyglutaric Acid Chiral Analysis, Quantitative, Random, Urine
Determining type of 2-hydroxyglutaric aciduria by chiral analysis of urine
LPCBS - Overview: Lysophosphatidylcholines, LC MS/MS, Blood Spot
Second-tier newborn screen for X-linked adrenoleukodystrophy This test is not intended for metabolic screening of symptomatic patients. This test is supplemental and not intended to replace state mandated newborn screening.
Mayo Clinic Laboratory and Pathology Research Roundup: July 16 - Insights
Research Roundup highlights how senolytics improve physical function and increase lifespan in old age....
Mayo Clinic Laboratory and pathology research roundup: August 8 - Insights
This week's research roundup feature: Age-based versus young-adult thresholds for nephrosclerosis on kidney biopsy and prognostic implications for CKD....
Mayo Clinic Laboratory and Pathology Research Roundup: May 14 - Insights
This week’s Research Roundup highlights potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations....
From Pediatrics to Geriatrics [Pediatric Phlebotomy] - Insights
presentation from the live 2017 Phlebotomy Conference, will focus on the challenges associated with age-related collections, dealing specifically with both the pediatric and geriatric patient....
Week in Review: April 8 - Insights
Today's Highlights Include: 5 reasons to consider becoming an organ donor, why so many women in middle age are on antidepressants, and should you get a second COVID-19 vaccine booster?...