PTOX - Overview: Toxoplasma gondii, Molecular Detection, PCR, Varies
Supporting the diagnosis of acute cerebral, ocular, disseminated, or congenital toxoplasmosis This test should not be used to screen healthy patients.
GALE - Overview: Uridine Diphosphate-Galactose 4' Epimerase, Blood
Diagnosis of uridine diphosphate-galactose 4' epimerase deficiency
GALT - Overview: Galactose-1-Phosphate Uridyltransferase, Blood
Diagnosis of galactose-1-phosphate uridyltransferase deficiency, the most common cause of galactosemia Confirmation of abnormal state newborn screening results
GAL1P - Overview: Galactose-1-Phosphate, Erythrocytes
Monitoring dietary therapy of patients with galactosemia due to deficiency of galactose-1-phosphate uridyltransferase or uridine diphosphate galactose-4-epimerase
FAO - Overview: Fatty Acid Oxidation Probe Assay, Fibroblast Culture
In vitro confirmation of biochemical diagnoses of the following fatty acid oxidation disorders: -Short-chain acyl-CoA dehydrogenase deficiency -Medium-chain acyl-CoA dehydrogenase deficiency -Long-chain 3-hydroxyacyl-CoA dehydrogenase...
ROGM - Overview: Measles (Rubeola) Virus Antibody, IgM and IgG, Serum
Diagnosing measles virus infection Determination of immune status of individuals to the measles virus using IgG antibody testing Documentation of previous infection with measles virus in an individual without a previous record of...
PLAFL - Overview: Platelet Surface Glycoprotein by Flow Cytometry, Blood
Identification of markedly decreased CD41 (GPIIb) and CD61 (GPIIIa) expression levels, which are diagnostic for Glanzmann thrombasthenia Identification of markedly decreased CD42a (GPIX) and CD42b (GPIb-alpha) expression levels, which are...
3MT - Overview: 3-Methoxytyramine, 24 Hour, Urine
A first- and second-tier screening test for the presumptive diagnosis of catecholamine-secreting pheochromocytomas and paragangliomas Testing in conjunction or as an alternative to plasma metanephrines (PMET / Metanephrines, Fractionated,...
TXMGP - Overview: Toxoplasma gondii Antibody, IgM and IgG, Serum
Determining whether a patient has had previous exposure to or recent infection with Toxoplasma gondii IgG is not useful for diagnosing infection in infants younger than 6 months of age. IgG antibodies in this age group usually are the...
GALTP - Overview: Galactose-1-Phosphate Uridyltransferase Biochemical Phenotyping, Erythrocytes
Determining the biochemical phenotype for galactosemia when enzymatic and molecular results are incongruent
GLIC - Overview: CD8 T-Cell Immune Competence, Global, Blood
Determining overimmunosuppression within the CD8 T-cell compartment, when used on transplant recipients and patients with autoimmune disorders receiving therapy with immunosuppressant agents
ALKT - Overview: ALK Mutation Analysis, Next-Generation Sequencing, Tumor
Identifying mutations within the ALK gene that predict resistance to ALK-inhibitors
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
TCD4 - Overview: CD4 Count for Immune Monitoring, Blood
Serial monitoring of CD4 T cell count in patients who are HIV-positive Follow-up and diagnostic evaluation of primary cellular immunodeficiencies, including severe combined immunodeficiency T-cell immune monitoring following...
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
METRN - Overview: Metanephrines, Fractionated, Random, Urine
A second-order screening test for the presumptive diagnosis of pheochromocytoma in patients with non-episodic hypertension Confirming positive plasma metanephrine results in patients with non-episodic hypertension
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...
CD4NY - Overview: CD4 Count for Monitoring, New York, Blood
Only orderable by New York clients Serial monitoring of CD4 T-cell count in patients who are HIV-positive Follow-up and diagnostic evaluation of primary cellular immunodeficiencies, including severe combined immunodeficiency T-cell...
CFMP - Overview: Cystic Fibrosis, CFTR Gene, Variant Panel, Varies
Confirmation of a clinical diagnosis of cystic fibrosis Reproductive risk refinement via carrier screening for individuals in the general population Reproductive risk refinement via carrier screening for individuals with a family history...
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...
GCT - Overview: Galactosemia Reflex, Blood
Preferred test for diagnosis, carrier detection, and determination of genotype of galactose-1-phosphate uridyltransferase deficiency, the most common cause of galactosemia Differentiating Duarte variant galactosemia from classic...
Diagnosis of inflammatory demyelinating diseases (IDD) with similar phenotype to neuromyelitis optica (NMO) spectrum disorder (NMOSD), including optic neuritis (single or bilateral) and transverse myelitis Diagnosis of autoimmune myelin...
RPCWT - Overview: Renal Pathology Consultation, Wet Tissue
Evaluating and managing patients with kidney disease Following the progression of known kidney disease or response to therapy Determining the cause of dysfunction in the transplanted kidney (allograft)
CHRCB - Overview: Chromosome Analysis, Congenital Disorders, Blood
Diagnosis of congenital chromosome abnormalities, including aneuploidy, structural abnormalities, and balanced rearrangements
RAVMP - Overview: Ravulizumab Monitoring Panel, Serum
Monitoring of complement blockage by ravulizumab Assessing the response to ravulizumab therapy Assessing the need for dose escalation Evaluating the potential for dose deescalation or discontinuation of therapy in remission...
CMPRE - Overview: Family Member Comparator Specimen for Exome Sequencing, Varies
Submitting a biological family member's specimen to be used as a comparator for affected patients (probands) undergoing whole exome sequencing
LLTOT - Overview: Leukemia and Lymphoma Immunophenotyping, Technical Only, Tissue
Evaluation of tissues for potential involvement by: -Chronic lymphoproliferative disorders -Malignant lymphomas -Acute lymphoblastic leukemia -Acute myelogenous leukemia
META3 - Overview: Metanephrines with 3-Methoxytyramine, 24 Hour, Urine
A first- and second-tier screening test for the presumptive diagnosis of catecholamine-secreting pheochromocytomas and paragangliomas
AHUSD - Overview: Atypical Hemolytic Uremic Syndrome Complement Panel, Serum and Plasma
Detecting deficiencies in the alternative pathway that can cause atypical-hemolytic uremic syndrome, dense deposit disease, and C3 glomerulonephritis A second-tier test that aids in the differential diagnosis of thrombotic...
TBBS - Overview: Quantitative Lymphocyte Subsets: T, B, and Natural Killer (NK) Cells, Blood
Serial monitoring of CD4 T-cell count in patients who are HIV-positive Follow-up and diagnostic evaluation of primary immunodeficiencies, including severe combined immunodeficiency Immune monitoring following immunosuppressive therapy...
MBX - Overview: Muscle Pathology Consultation
Obtaining a rapid, expert opinion on muscle biopsy specimens for diagnosis of acquired or inherited muscle diseases Guiding treatment and genetic testing, as well as investigating relevance of genetic variants of unknown significance
TBNY - Overview: T, B and NK Lymphocyte Quantitation, New York, Blood
Only orderable by New York clients Serial monitoring of CD4 T-cell count in patients who are HIV-positive Follow-up and diagnostic evaluation of primary immunodeficiencies, including severe combined immunodeficiency Immune monitoring...
ACRNS - Overview: Acylcarnitines, Quantitative, Serum
Diagnosis of fatty acid oxidation disorders and several organic acidurias using serum specimens Evaluating treatment during follow-up of patients with fatty acid beta-oxidation disorders and several organic acidurias
ACRN - Overview: Acylcarnitines, Quantitative, Plasma
Diagnosis of fatty acid oxidation disorders and several organic acidurias using plasma specimens Evaluating treatment during follow-up of patients with fatty acid beta-oxidation disorders and several organic acidurias
GLICP - Overview: CD8 T-Cell Immune Competence Panel, Global, Whole Blood
Determining over immunosuppression within the CD8 T-cell compartment, when used on transplant recipients and patients with autoimmune disorders receiving therapy with immunosuppressant agents
As part of the diagnosis and workup of precocious and delayed puberty in females and, to a lesser degree, males As part of the diagnosis and workup of suspected disorders of sex steroid metabolism (eg, aromatase deficiency and 17...
LLPT - Overview: Leukemia/Lymphoma Immunophenotyping, Flow Cytometry, Tissue
Evaluation of tissues for potential involvement by: -Chronic lymphoproliferative disorders -Malignant lymphomas -Acute lymphoblastic leukemia -Acute myelogenous leukemia
MCP2Z - Overview: MECP2 Gene, Full Gene Analysis, Varies
Establishing a molecular diagnosis in individuals with features of Rett syndrome and MECP2-related disorders Identifying pathogenic variants within the MECP2 gene known to be associated with Rett syndrome and MECP2-related disorders,...
GNPRC - Overview: Protein C Deficiency, PROC Gene, Next-Generation Sequencing, Varies
Evaluating protein C deficiency in patients with a personal or family history suggestive of this hereditary thrombophilia Confirming a diagnosis of autosomal dominant protein C deficiency with the identification of a known or suspected...
PWAS - Overview: Prader-Willi/Angelman Syndrome, Molecular Analysis, Varies
Confirmation of diagnosis in patients suspected of having either Prader-Willi syndrome (PWS) or Angelman syndrome (AS) based on clinical assessment or previous laboratory analysis Prenatal diagnosis in families at risk for PWS or AS
UGTFZ - Overview: UDP-Glucuronosyltransferase 1A1 (UGT1A1), Full Gene Sequencing, Varies
Establishing a diagnosis of Crigler-Najjar syndrome type I or type II and the trait of Gilbert syndrome Establishing carrier status for Crigler-Najjar syndrome type I or type II Identifying individuals who are at risk of...
ECMP - Overview: Eculizumab Monitoring Panel, Serum
Monitoring of complement blockage by eculizumab Assessing the response to eculizumab therapy Assessing the need for dose escalation Evaluating the potential for dose de-escalation or discontinuation of therapy in remission...
2D6Q - Overview: Cytochrome P450 2D6 Comprehensive Cascade, Varies
Providing information relevant to tamoxifen, codeine, and tramadol, as well as other medications metabolized by cytochrome P450 2D6 Determining the exact genotype when other methods fail to generate this information or if...
LPAGF - Overview: Lymphocyte Proliferation to Antigens, Blood
Assessing T-cell function in patients on immunosuppressive therapy, including solid-organ transplant patients Evaluating patients suspected of having impairment in cellular immunity Evaluation of T-cell function in patients with primary...
Predicting potential for toxicity to thiopurine drugs (6-mercaptopurine, 6-thioguanine, and azathioprine)
EEST - Overview: Estradiol, Serum
All applications that require moderately sensitive measurement of estradiol: -Evaluation of hypogonadism and oligo-amenorrhea in females -Assessing ovarian status, including follicle development, for assisted reproduction protocols (eg, in...
Follow-up testing to identify variants in individuals with a clinical diagnosis of cystic fibrosis (CF) Identifying genetic variants in individuals with atypical presentations of CF (eg, congenital bilateral absence of the vas deferens or...
SPAGR - Overview: Special Red Cell Antigen Typing, Whole Blood
Additional proof of alloantibody specificity Determining possible antibody specificities in complex cases This test is not useful for the purpose of establishing paternity
ECHNG - Overview: Echinococcus Antibody, IgG, Serum
Detection of antibodies to Echinococcus granulosus
ESTF - Overview: Estrogens, Estrone (E1) and Estradiol (E2), Fractionated, Serum
Simultaneous high-sensitivity determination of serum estrone and estradiol levels Situations requiring either higher sensitivity estradiol measurement, estrone measurement, or both, including -As part of the diagnosis and workup of...
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Mayo Clinic Laboratory and Pathology Research Roundup: Nov. 19 - Insights
This week’s Research Roundup highlights the association of apolipoprotein E ε4 with transactive response DNA-binding protein 43....