NTRKM - Overview: NTRK Genes Mutation Analysis, Next-Generation Sequencing, Tumor
Identifying NTRK mutations that may predict resistance to Trk inhibitors
CTP0 - Overview: Catecholamine Fractionation, Supine, Plasma, Free
Diagnosis of pheochromocytoma and paraganglioma in specimens collected from individuals in a supine position, as an auxiliary test to fractionated plasma and urine metanephrine measurements Diagnosis and follow-up of patients with...
ALAGP - Overview: Alagille Syndrome Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of Alagille syndrome Establishing a diagnosis of Alagille syndrome
CHRCV - Overview: Chromosome Analysis, Chorionic Villus Sampling
Prenatal diagnosis of chromosome abnormalities, including aneuploidy (ie, trisomy or monosomy) and balanced rearrangements This test is not appropriate as a first-tier test for detecting gains or losses of chromosomal material in...
C2NAD - Overview: PrecivityAD, Plasma
Assisting in the evaluation of adult patients, aged 55 years and older, with signs or symptoms of mild cognitive impairment or dementia who are being assessed for Alzheimer disease and other causes of cognitive decline This is not intended...
PGDBS - Overview: Plasmalogens, Blood Spot
Diagnosing patients with possible peroxisomal disorders, such as peroxisomal biogenesis disorders (Zellweger syndrome spectrum) and rhizomelic chondrodysplasia punctata (RCDP), including fatty acyl-CoA reductase 1 (FAR1)...
PUPYU - Overview: Purines and Pyrimidines Panel, Random, Urine
Evaluating patients with symptoms suspicious for disorders of purine and pyrimidine metabolism Monitoring patients with disorders of purine and pyrimidine metabolism Laboratory evaluation of primary and secondary hyperuricemias
25HDN - Overview: 25-Hydroxyvitamin D2 and D3, Serum
Diagnosis of vitamin D deficiency Differential diagnosis of causes of rickets and osteomalacia Monitoring vitamin D replacement therapy Diagnosis of hypervitaminosis D
MISCF - Overview: Miscellaneous Studies Using Chromosome-Specific Probes, FISH
Resolution of unusual or complex structural alterations, questionable mosaicism, and unbalanced chromosome abnormalities that cannot be resolved by chromosome or chromosomal microarray analysis Identifying gain, loss, or rearrangement of...
HTG2 - Overview: Thyroglobulin, Tumor Marker, Serum
Follow-up of patients with differentiated thyroid cancers after thyroidectomy and radioactive iodine ablation
BLWRF - Overview: Walnut-Food, IgE, with Reflex to Walnut-Food Components, IgE, Serum
Evaluation of patients with suspected walnut-food allergy
DICET - Overview: DICER1 Mutation Analysis, Next-Generation Sequencing, Tumor
Identifying specific mutations within the DICER1 gene to assist in tumor diagnosis/classification
HCVG - Overview: Hepatitis C Virus Genotype, Serum
Determining hepatitis C virus (HCV) genotype (1 to 5) to guide antiviral therapy in patients with chronic hepatitis C Differentiating between HCV subtypes 1a and 1b This assay should not be used as a screening test for HCV infection. It...
MPS1Z - Overview: Hurler Syndrome, Full Gene Analysis, Varies
Identifying variants within the IDUA gene Confirmation of a diagnosis of mucopolysaccharidosis type I (MPS-I) Carrier testing when there is a family history of MPS- I, but disease-causing variants have not been previously identified
MUGS - Overview: Hexosaminidase A, Serum
Second-order test for diagnosing the B1 variant of Tay-Sachs disease This test is not useful for testing for Sandhoff disease.
IDHT - Overview: IDH1 and IDH2 Mutation Analyses, Next-Generation Sequencing, Tumor
Identifying specific mutations within the IDH1 and IDH2 genes that assist in tumor diagnosis/classification and predict response to targeted therapy
HIVQN - Overview: HIV-1 RNA Detection and Quantification, Plasma
Quantifying plasma HIV-1 RNA levels (viral load) in individuals living with HIV-1: -Before initiating antiretroviral therapy to obtain baseline viral load -Who may have developed HIV-1 drug resistance while on antiretroviral therapy -Who...
LPSC1 - Overview: Lipid Panel, Serum
Managing atherosclerotic cardiovascular disease risk using serum specimens
PBPFD - Overview: Lead Profile Occupational Exposure, Blood
Detecting lead toxicity due to occupational exposure
MCMLN - Overview: MayoComplete Melanoma Panel, Next-Generation Sequencing, Tumor
Determining if patients will respond to targeted therapy Assessing microsatellite instability for immunotherapy decisions
MCCRC - Overview: MayoComplete Colorectal Cancer Panel, Next-Generation Sequencing, Tumor
Primarily for determining patient response to various targeted therapies/immunotherapy Predicting prognosis from microsatellite instability status
MCECP - Overview: MayoComplete Endometrial Carcinoma Panel, Next-Generation Sequencing, Tumor
Primarily for determining if patients will respond to targeted therapy Assessment of microsatellite instability for immunotherapy decisions Molecular-based classification of endometrial carcinoma
ASPBA - Overview: Aspergillus Antigen, Bronchoalveolar Lavage
Aiding in the diagnosis of invasive aspergillosis using bronchoalveolar lavage specimens Assessing response to therapy
Identifying specific mutations within the ELOC (TCEB1), TSC1, TSC2, and VHL genes to assist in tumor diagnosis/classification Assisting in the clinical management of patients with renal cell carcinoma
SOD1Z - Overview: SOD1 Gene, Full Gene Analysis, Varies
Establishing a molecular diagnosis for patients with amyotrophic lateral sclerosis (ALS) Identifying variants within SOD1 known to be associated with ALS, allowing for predictive testing of at-risk family members
CHRAF - Overview: Chromosome Analysis, Amniotic Fluid
Prenatal diagnosis of chromosome abnormalities, including aneuploidy (ie, trisomy or monosomy) and balanced rearrangements
CD20B - Overview: CD20 on B Cells, Blood
Evaluation of patients with a suspected CD19 deficiency (humoral immunodeficiency) Confirming complete absence of B cells in suspected primary humoral immunodeficiencies using both CD19 and CD20 markers Assessing therapeutic B-cell...
CATU - Overview: Catecholamine Fractionation, Free, 24 Hour, Urine
An auxiliary test to fractionated plasma and urine metanephrine measurements in the diagnosis of pheochromocytoma and paraganglioma An auxiliary test to urine vanillylmandelic acid and homovanillic acid determination in the diagnosis and...
CATPA - Overview: Catecholamine, Endocrine Study, Plasma
Diagnosis of pheochromocytoma and paraganglioma in specimens collected from individuals in both supine and standing positions, as an auxiliary test to fractionated plasma and urine metanephrine measurements Diagnosis and follow-up of...
CATP - Overview: Catecholamine Fractionation, Free, Plasma
Diagnosing pheochromocytoma and paraganglioma, as an auxiliary test to fractionated plasma and urine metanephrine measurements Diagnosis follow-up of patients with neuroblastoma and related tumors, as an auxiliary test to urine...
Supporting the diagnosis of endometrial stromal tumors when used in conjunction with an anatomic pathology consultation
CHRCB - Overview: Chromosome Analysis, Congenital Disorders, Blood
Diagnosis of congenital chromosome abnormalities, including aneuploidy, structural abnormalities, and balanced rearrangements
ACARP - Overview: Acanthamoeba species Molecular Detection, PCR, Ocular
Aids in the diagnosis of amebic keratitis in conjunction with clinical findings
Establishing diagnosis and identifying targeted therapies for patients with gastrointestinal stromal tumors Assessing microsatellite instability
DMITO - Overview: Mitochondrial DNA Deletion Heteroplasmy, ddPCR, Varies
Assessing the heteroplasmy level of previously detected large mitochondrial DNA (mtDNA) deletions. Screening family members for previously detected large mtDNA deletions. This test is not recommended for first tier diagnostic testing...
HIAA - Overview: 5-Hydroxyindoleacetic Acid, 24 Hour, Urine
Biochemical diagnosis and monitoring of intestinal carcinoid syndrome using 24-hour urine specimens
MULT - Overview: Zygosity Testing (Multiple Births), Varies
Determining genetic risk for an individual whose twin or triplet is affected with a genetic disorder for which a specific genetic test is not available (or such testing is uninformative) Assessment of risks prenatally when one fetus of...
Primarily for determining if patients will respond to targeted therapy Assessment of microsatellite instability for immunotherapy decisions
NGHIS - Overview: MayoComplete Histiocytic Neoplasms, Next-Generation Sequencing, Varies
Aiding in establishing diagnosis, refining prognosis, and potentially identifying targeted therapies for the optimal management of patients with histiocytic neoplasms
ENS2 - Overview: Encephalopathy, Autoimmune/Paraneoplastic Evaluation, Serum
Evaluating, using serum specimens, new onset encephalopathy (noninfectious or metabolic) comprising confusional states, psychosis, delirium, memory loss, hallucinations, movement disorders, sensory or motor complaints, seizures, dyssomnias,...
DMS2 - Overview: Dementia, Autoimmune/Paraneoplastic Evaluation, Serum
Investigating new onset dementia and cognitive impairment plus 1 or more of the following using serum specimens: -Rapid onset and progression -Fluctuating course -Psychiatric accompaniments (psychosis, hallucinations) -Movement disorder...
MDC2 - Overview: Movement Disorder, Autoimmune/Paraneoplastic Evaluation, Spinal Fluid
Evaluating patients with suspected paraneoplastic or other autoimmune movement disorders including patients with ataxia, brainstem encephalitis, chorea, dyskinesias, myoclonus, and parkinsonism using spinal fluid specimens
PSTF - Overview: Protein S Antigen, Plasma
Investigation of patients with a history of thrombosis
PMHLH - Overview: Postmortem Primary Hemophagocytic Lymphohistiocytosis (HLH) Gene Panel, Tissue
Providing a comprehensive postmortem genetic evaluation in the setting of a death attributed to primary hemophagocytic lymphohistiocytosis Identifying a disease-causing variant in the decedent, which may assist with risk assessment and...
STK1Z - Overview: Peutz-Jeghers Syndrome, STK11, Full Gene Analysis, Varies
Evaluating patients with a personal or family history suggestive of Peutz-Jeghers syndrome (PJS) Establishing a diagnosis of PJS allowing for targeted cancer surveillance based on associated risks Identifying variants within genes known...
DOCS - Overview: 11-Deoxycorticosterone, Serum
Diagnosis of suspected 11-hydroxylase deficiency, including the differential diagnosis of 11-beta-hydroxylase 1 (CYP11B1) versus 11-beta-hydroxylase 2 (CYP11B2) deficiency Diagnosis of glucocorticoid-responsive...
IETG - Overview: Interference Evaluation Heterophile, Thyroglobulin Tumor Marker, Serum
Evaluation of suspected interference from heterophile antibodies causing a falsely elevated thyroglobulin result
MCBPP - Overview: MayoComplete Bladder and Prostate Cancer Panel, Next-Generation Sequencing, Tumor
Primarily for determining if patients will respond to targeted therapy Assessment of microsatellite instability for immunotherapy decisions
EEEV1 - Overview: Red Blood Cell (RBC) Enzyme Evaluation, Blood
Identifying defects of red blood cell enzyme metabolism Evaluating patients with Coombs-negative hemolytic anemia
HTGR - Overview: Thyroglobulin, Tumor Marker Reflex, Serum
Reporting of accurate thyroglobulin results, depending on the antithyroglobulin antibodies status of the patient Accurate measurement of serum thyroglobulin in patients with known or suspected antithyroglobulin autoantibodies or possible...
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)...
Laboratory and Pathology Research Roundup: March 12 - Insights
known. We performed laser microdissection (LCM) of glomeruli followed by mass spectrometry (MS) in 12 cases each of DDD, C3GN, and pretransplant kidney control biopsies....
COVID-19: At-home sample collection vs. at-home testing - Insights
The concept of at-home testing 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 areas,...
Clinic Laboratory and Pathology Research Roundup: Nov. 12 - Insights
This week’s Research Roundup highlights a mechanism for preventing asymmetric histone segregation onto replicating DNA strands.
Transfusion Toons: A1 vs. A2 - Insights
Justin Kreuter, M.D., Clinical Pathologist and Medical Director of the Mayo Clinic Blood Donor Center in Rochester, Minnesota, and Theresa Malin, an Education Specialist in Transfusion Medicine at Mayo Clinic, have launched “Transfusion...