PMMIL - Overview: Phosphomannomutase and Phosphomannose Isomerase, Leukocytes
Diagnosing congenital disorders of glycosylation Ia (phosphomannomutase-2 deficiency: PMM2-CDG) and Ib (phosphomannose isomerase deficiency: MPI-CDG) as measured in leukocytes Follow-up testing for patients with an abnormal type I CDG...
CHLE - Overview: Cholesteryl Esters, Serum
Establishing a diagnosis of lecithin-cholesterol acyltransferase deficiency Evaluating the extent of metabolic disturbance by bile stasis or liver disease
TPIC - Overview: Triosephosphate Isomerase Enzyme Activity, Blood
Evaluating individuals with chronic nonspherocytic hemolytic anemia Evaluating individuals with early onset neurologic impairment Genetic counseling for families with triosephosphate isomerase deficiency
THSD7 - Overview: Thrombospondin Type-1 Domain-Containing 7A Antibodies, Serum
Distinguishing primary from secondary membranous nephropathy cases with antibodies against THSD7A
PGK1 - Overview: Phosphoglycerate Kinase Enzyme Activity, Blood
Evaluation of individuals with Coombs-negative nonspherocytic hemolytic anemia, especially if X-linked inheritance pattern Evaluation of individuals with myopathic or neurologic symptoms
PGKC - Overview: Phosphoglycerate Kinase Enzyme Activity, Blood
Evaluation of individuals with Coombs-negative nonspherocytic hemolytic anemia, especially if X-linked inheritance pattern. Evaluation of individuals with myopathic or neurologic symptoms
CRHEP - Overview: Chronic Viral Hepatitis (Unknown Type), Serum
Diagnosis and evaluation of patients with symptoms of hepatitis lasting more than 6 months Distinguishing between chronic hepatitis B and C
An aid in the diagnosis of alveolar soft-part sarcoma or renal cell carcinoma variant when used in conjunction with an anatomic pathology consultation
CSFP - Overview: Carrier Screen, Focused Panel, Varies
Expanded carrier screening for reproductive risk assessment purposes This test is not useful for clinical diagnosis of an affected individual.
KCSF - Overview: Immunoglobulin Kappa Free Light Chain, Spinal Fluid
Diagnosing multiple sclerosis and other demyelinating conditions Evaluating patients who present with a clinically isolated syndrome in which the patient reports symptoms (headaches, optic neuritis, fatigue, and many others, depending on...
Information: Interpreting Laboratory Tests to Determine New vs. Residual Use of Marijuana - Insights
In this month's "Hot Topic," Paul Jannetto, Ph.D., identifies how to determine new vs. residual use of marijuana in a patient, and teaches how to calculate the carboxy-tetrahydrocannabinol (carboxy-THC)...
COVID-19: At-home sample collection vs. at-home testing - Insights
for COVID-19 sounds straightforward. But there's nuance to it that's important to understand. Right now, an at-home test for COVID-19 is not available, although there may be one coming soon. But in some...
Mayo Now Has Two Ninjas in the House - Insights
Candace Granberg, M.D., has a lot of titles, including surgeon, wife, mom, and volunteer. Now, she can add another: ninja warrior. The pediatric urologist is the second Mayo staff member chosen to participate...
The State of COVID-19 Now: Dr. Bill Morice - Insights
M.D. This week, Dr. Morice and Dr. Pritt step back and look at where the COVID-19 pandemic stands now, and they consider the potential effects that the omicron variant, expanded testing availability, and...
rights reserved. 07/2021 Hepatitis E: Testing Algorithm for Diagnosis and Management Immunocompetent patients with abnormal liver enzyme levels and at risk for hepatitis E virus (HEV) Immun......