NONCR - Overview: Neuro-Oncology Gene Panel, Rearrangements Only, Tumor
Identifying rearrangements that may support a diagnosis or help determine prognosis for patients with central nervous system tumors Identifying rearrangements within genes known to be associated with response or resistance to specific...
CASHX - Overview: Cashew Component, IgE, Serum
Evaluation of patients with suspected cashew allergy to component Ana o 3
Detecting Chlamydia trachomatis and Neisseria gonorrhoeae using self-collected vaginal swabs collected by the patient in a healthcare setting This test is not intended for use in medico-legal applications. This test is not useful for the...
CPR - Overview: C-Peptide, Serum
Diagnostic workup of hypoglycemia: -Diagnosis of factitious hypoglycemia due to surreptitious administration of insulin -Evaluation of possible insulinoma -Surrogate measure for the absence or presence of physiological suppressibility of...
2C9QT - Overview: Cytochrome P450 2C9 Genotype, Varies
Identifying individuals who may be at risk for altered metabolism of drugs that are modified by cytochrome P450 2C9
DENGM - Overview: Dengue Virus Antibody, IgG and IgM, Serum
Aiding in the diagnosis of dengue virus infection
EPO - Overview: Erythropoietin, Serum
An aid in distinguishing between primary and secondary polycythemia Differentiating between appropriate secondary polycythemia (eg, high-altitude living, pulmonary disease, tobacco use) and inappropriate secondary polycythemia (eg,...
EHBAP - Overview: Ehrlichia/Babesia Antibody Panel, Immunofluorescence, Serum
As an adjunct in the diagnosis of infection with Anaplasma phagocytophilum, Ehrlichia chaffeensis, or Babesia microti Seroepidemiological surveys of the prevalence of the infection in certain populations
P53CA - Overview: Hematologic Neoplasms, TP53 Somatic Mutation, DNA Sequencing Exons 4-9, Varies
Evaluating chronic lymphocytic leukemia patients at diagnosis or during disease course for the presence of TP53 gene variants indicating high risk of disease progression and adverse outcomes This test is not intended for the evaluation of...
WESMT - Overview: Whole Exome and Mitochondrial Genome Sequencing, Varies
Serving as a first-tier test to identify a molecular and/or mitochondrial diagnosis in patients with suspected genetic disorders, which can allow for: -Better understanding of the natural history/prognosis -Targeted management (anticipatory...
MAS1 - Overview: Myelopathy, Autoimmune/Paraneoplastic Evaluation, Serum
Evaluating patients with suspected autoimmune myelopathy, myelitis, and paraneoplastic myelopathy using serum specimens
EPS2 - Overview: Epilepsy, Autoimmune/Paraneoplastic Evaluation, Serum
Investigating new onset cryptogenic epilepsy with incomplete seizure control and duration of less than 2 years, using serum specimens Investigating new onset cryptogenic epilepsy plus 1 or more of the following accompaniments: -Psychiatric...
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...
PMPDD - Overview: PMP22 Gene, Large Deletion/Duplication Analysis, Varies
Diagnosis of Charcot-Marie-Tooth type 1A or hereditary neuropathy with liability to pressure palsies
OHPG - Overview: 17-Hydroxyprogesterone, Serum
Screening test for congenital adrenal hyperplasia (CAH), caused by either 11- or 21-hydroxylase deficiency, when used in combination with testing for cortisol and androstenedione As part of a battery of tests to evaluate women with...
VWACT - Overview: von Willebrand Factor Activity, Plasma
Diagnosis of von Willebrand disease (VWD) and differentiation of VWD subtypes or differentiation of VWD from hemophilia A Monitoring therapeutic efficacy of treatment with DDAVP (desmopressin) or VWF concentrates in patients with VWD
BLWX - Overview: Walnut-Food Components, IgE, Serum
Evaluation of patients with suspected walnut-food allergy to one of 2 walnut-food components
GLIOF - Overview: 1p/19q Deletion in Gliomas, FISH, Tissue
Aids in diagnosing oligodendroglioma tumors and predicting the response of an oligodendroglioma to therapy May be useful in tumors with a complex "hybrid" morphology requiring differentiation from pure astrocytomas to support the presence...
SCAP - Overview: Spinocerebellar Ataxia Repeat Expansion Panel, Varies
Molecular confirmation of clinically suspected spinocerebellar ataxia when a specific subtype isn't suspected
CTP10 - Overview: Catecholamine Fractionation, Standing, Plasma, Free
Diagnosis of pheochromocytoma and paraganglioma in specimens collected from individuals in a standing position, as an auxiliary test to fractionated plasma and urine metanephrine measurements Diagnosis and follow-up of patients with...
CPAVP - Overview: Copeptin proAVP, Plasma
Investigating the differential diagnosis for patients with water balance disorders, including diabetes insipidus, in conjunction with osmolality and hydration status May aid in the evaluation of cardiovascular disease in conjunction with...
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.
PSF - Overview: Protein S Antigen, Free, Plasma
As part of an investigation of patients with a history of thrombosis
Assessing sensitization to various inhalant allergens commonly found in the North Atlantic region including Connecticut, Maryland, Maine, New Hampshire, New Jersey, New York, Pennsylvania, Rhode Island, and Vermont Defining the allergen...
RPR5 - Overview: Respiratory Profile, Region 5, Ohio Valley (IN, KY, OH, TN, WV), Serum
Assessing sensitization to various inhalant allergens commonly found in the Ohio Valley region including Indiana, Kentucky, Ohio, Tennessee, and West Virginia Defining the allergen responsible for eliciting signs and symptoms...
RPDEI - Overview: Rapidly Progressive Dementia Evaluation Interpretation, Spinal Fluid
Interpretation of the Rapidly Progressive Dementia Evaluation
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
IDTRT - Overview: IDH1, IDH2, and TERT Mutation Analysis, Next-Generation Sequencing, Tumor
Identifying specific mutations within the IDH1 and IDH2 genes and the TERT promoter to assist in tumor diagnosis/classification
IFG23 - Overview: Intact Fibroblast Growth Factor 23, Serum
Diagnosing and monitoring tumor induced osteomalacia Diagnosing X-linked hypophosphatemia or autosomal dominant hypophosphatemic rickets Diagnosing familial tumoral calcinosis with hyperphosphatemia
HBAGQ - Overview: Hepatitis B Virus Surface Antigen, Quantitative, Serum
Monitoring of progression of chronic hepatitis B in individuals who are confirmed to be positive for hepatitis B surface antigen Monitoring of response to antiviral therapy in individuals who have chronic hepatitis B but are negative for...
PSHIV - Overview: HIV-1 RNA Patient Source, Plasma
Detection and diagnosis of HIV-1 infection in an acutely or early infected individual (including infants of <2 years of age) who is the source of blood or body fluid in an occupational exposure event
TFH - Overview: FH Mutation Analysis, Next-Generation Sequencing, Tumor
Identifying specific mutations within the FH gene to assist in tumor diagnosis/classification, including renal cell carcinoma, uterine/cutaneous leiomyoma, and pheochromocytoma/paraganglioma
XL2T - Overview: FOXL2 Mutation Analysis, Next-Generation Sequencing, Tumor
Assisting in the clinical diagnosis of adult granulosa cell tumor by assessing gene targets with in the FOXL2 gene
IGGS - Overview: IgG Subclasses, Serum
Second-order testing for evaluation of patients with clinical signs and symptoms of humoral immunodeficiency or combined immunodeficiency (cellular and humoral)
ALKT - Overview: ALK Mutation Analysis, Next-Generation Sequencing, Tumor
Identifying mutations within the ALK gene that predict resistance to ALK-inhibitors
AAPD - Overview: Amino Acids, Quantitative, Random, Urine
Evaluating patients with possible inborn errors of metabolism using random urine specimens May aid in evaluation of endocrine disorders, liver diseases, muscle diseases, neoplastic diseases, neurological disorders, nutritional...
TTRX - Overview: Amyloidosis, Transthyretin-Associated Familial, Reflex, Blood
Diagnosis of adult individuals suspected of having transthyretin-associated familial amyloidosis
APCRR - Overview: Activated Protein C Resistance V, with Reflex to Factor V Leiden, Blood and Plasma
Evaluating patients with incident or recurrent venous thromboembolism (VTE) Evaluating individuals with a family history of VTE
An aid in the diagnosis of alveolar soft-part sarcoma or renal cell carcinoma variant when used in conjunction with an anatomic pathology consultation
BRCAT - Overview: BRCA1/2 Mutation Analysis, Next-Generation Sequencing, Tumor
Identifying specific mutations within the BRCA1 and BRCA2 genes known to be associated with response to PARP inhibitors and sensitivity to platinum-based therapy This test is not intended for the evaluation of patients suspected of having...
Evaluating patients with chronic myelogenous leukemia and Philadelphia chromosome positive B-cell acute lymphoblastic leukemia receiving tyrosine kinase inhibitor (TKI) therapy, who are apparently failing treatment Preferred initial test...
BAMRP - Overview: Bile Acids Malabsorption Panel, Serum and Feces
Aiding in the evaluation of patients suspected of having chronic diarrhea symptoms due to bile acid malabsorption
BRFKT - Overview: BRAF and KIT Mutation Analysis, Next-Generation Sequencing, Tumor
Identifying specific mutations within the BRAF and KIT genes that predict response to therapy
MAMLF - Overview: MAML2 (11q21) Rearrangement, Mucoepidermoid Carcinoma (MEC), FISH, Tissue
Supporting the diagnosis of mucoepidermoid carcinoma when used in conjunction with an anatomic pathology consultation
STER - Overview: Sterols, Plasma
Investigation of possible desmosterolosis (desmosterol reductase deficiency), cerebrotendinous xanthomatosis, lathosterolosis, sitosterolemia, sterol C4 methyl oxidase deficiency, MEND (male EBP disorder with neurologic defects) syndrome,...
SDHMP - Overview: SDH Genes Mutation Analysis, Next-Generation Sequencing, Tumor
Identifying specific mutations within the SDHA, SDHB, SDHC, and SDHD genes to assist in tumor diagnosis/classification, including pheochromocytoma/paraganglioma, renal cell carcinoma, and pituitary adenoma
CASHR - Overview: Cashew, IgE with Reflex to Cashew Component, IgE, Serum
Evaluation of patients with suspected cashew allergy
CELI - Overview: Celiac Associated HLA-DQ Alpha 1 and DQ Beta 1 DNA Typing, Blood
Assessing risk of celiac disease
2C19R - Overview: Cytochrome P450 2C19 Genotype, Varies
Identifying patients who may be at risk for altered metabolism of drugs that are modified by cytochrome P450 2C19 Predicting anticoagulation response to clopidogrel
COMTQ - Overview: Catechol-O-Methyltransferase (COMT) Genotype, Varies
Prediction of response to nicotine replacement therapy for smoking cessation Investigation of inhibitor dosing for decreasing levodopa metabolism Research use for assessing estrogen metabolism
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...