Second-tier testing of newborns with an abnormal primary screening result for mucopolysaccharidosis type II (MPS II, decreased iduronate-2-sulfatase) where quantitation of the glycosaminoglycans dermatan and heparan sulfate is desired in...
PD2T - Overview: Pompe Disease Second-Tier Newborn Screening, Blood Spot
Second-tier testing of newborns with an abnormal primary screening result for Pompe disease (decreased acid alpha-glucosidase enzyme activity) Follow-up testing for evaluation of an abnormal newborn screening result for Pompe disease
TLPDF - Overview: T-Cell Lymphoma, Diagnostic FISH, Varies
Detecting, at diagnosis, common chromosome abnormalities associated with specific T-cell lymphoma subtypes using a laboratory-designated probe set algorithm
GNHMA - Overview: Hemophilia A, F8 Gene, Next-Generation Sequencing, Varies
Confirming a clinical diagnosis of hemophilia A in affected male patients with the identification of a disease-causing variant in the F8 gene Determining the disease-causing alteration within the F8 gene to delineate the underlying...
METR1 - Overview: Cytochrome b5 Reductase Enzyme Activity, Blood
Evaluation of patients with cyanosis Confirming cases of suspected cytochrome b5 reductase (methemoglobin reductase) deficiency Functional studies in families with cytochrome b5 reductase deficiency
NEFA - Overview: Free Fatty Acids, Total, Serum
Evaluation of metabolic status of patients with endocrinopathies Monitoring of control of diabetes mellitus Monitoring the effects of therapeutic diet/exercise lifestyle changes
MEPHS - Overview: Mephobarbital and Phenobarbital, Serum
Monitoring of mephobarbital and phenobarbital therapy
FLUC - Overview: 5-Flucytosine, Serum
Monitoring serum concentration during therapy Evaluating potential toxicity May aid in evaluating patient compliance
ROC - Overview: Rubeola (Measles) Antibodies, IgG and IgM, Spinal Fluid
Diagnosing central nervous system rubeola (measles) virus infection and/or subacute sclerosing panencephalitis
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...
Mayo Clinic Ranked No. 1 Hospital Nationwide by U.S. News & World Report - Insights
Report’s 29th annual "Best Hospitals Honor Roll" published online on August 14. Mayo Clinic also ranked No. 1 in more specialties than any other hospital in the country....
NELL-1 [Test in Focus] - Insights
D., discusses how Mayo Clinic Laboratories’ new immunohistochemistry test for the detection of NELL-1 antigen, a biomarker for membranous nephropathy found in 10% to 15% of patients, provides diagnostic...
Looking Back on Clinical Chemistry 1 - Insights
in the Mayo Clinic Medical Laboratory Science program, takes a look back on her Clinical Chemistry 1 course....
Detection of (1→3)-𝝱-D-glucan as a Marker of Invasive Fungal Disease - Insights
In this month’s “Hot Topic,” Elitza Theel, Ph.D., will discuss the detection of (1→3)-β-D-glucan (BDG) in serum as a biomarker for the presence of invasive fungal infections....
Orexin-A/Hypocretin-1 for the Diagnosis of Type 1 Narcolepsy [Test in Focus] - Insights
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....