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Test Catalog

HIAA - Overview: 5-Hydroxyindoleacetic Acid, 24 Hour, Urine

Biochemical diagnosis and monitoring of intestinal carcinoid syndrome using 24-hour urine specimens

ACASM - Overview: Pernicious Anemia Cascade, Serum

Diagnosis of pernicious anemia Diagnosis of vitamin B12 deficiency-associated neuropathy

C9ORF - Overview: C9orf72 Hexanucleotide Repeat, Molecular Analysis, Varies

Molecular confirmation of clinically suspected cases of c9FTD/ALS, frontotemporal dementia (FTD), or amyotrophic lateral sclerosis (ALS) Presymptomatic testing for individuals with a family history of c9FTD/ALS and a documented expansion...

HL57R - Overview: HLA-B*57:01 Genotype, Pharmacogenomics, Varies

Identifying individuals with an increased risk of hypersensitivity reactions to abacavir, based on the presence of the human leukocyte antigen HLA-B*57:01 allele Identifying individuals taking pazopanib who have an increased risk of...

MPS2R - Overview: Endogenous Mucopolysaccharidosis Type II (I2S [Iduronate-2-Sulfatase]) Biomarker Reflex, Blood Spot

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...

DMC2 - Overview: Dementia, Autoimmune/Paraneoplastic Evaluation, Spinal Fluid

Investigating new onset dementia and cognitive impairment plus 1 or more of the following accompaniments using cerebrospinal fluid specimens: -Rapid onset and progression -Fluctuating course -Psychiatric accompaniments (psychosis,...

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

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...

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...

MDS2 - Overview: Movement Disorder, Autoimmune/Paraneoplastic Evaluation, Serum

Evaluating patients with suspected paraneoplastic or other autoimmune movement disorders including patients with ataxia, brainstem encephalitis, chorea, dyskinesias, myoclonus, and parkinsonism using serum specimens

ALPGP - Overview: Alport Syndrome Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of Alport syndrome Establishing a diagnosis of Alport syndrome

HBAGP - Overview: Hepatitis B Virus Surface Antigen Prenatal, Serum

Diagnosis of acute, recent, or chronic hepatitis B Determination of chronic hepatitis B status Screening pregnant women for evidence of chronic hepatitis B (or hepatitis B carrier state) to identify neonates who are at high risk of...

CHSBP - Overview: Chronic Hepatitis B Monitoring Profile, Serum

Evaluating and monitoring individuals with known chronic hepatitis B Monitoring hepatitis B viral infectivity after resolution of acute hepatitis B

DAGL - Overview: Gliadin (Deamidated) Antibody, IgA, Serum

Assessment of deaminated gliadin IgA antibodies for evaluating patients suspected of having celiac disease, including patients with compatible clinical symptoms, patients with atypical symptoms, and individuals at increased risk (family...

DGGL - Overview: Gliadin (Deamidated) Antibody, IgG, Serum

Assessment of deaminated gliadin IgG antibodies for evaluating patients suspected of having celiac disease, including patients with compatible clinical symptoms, patients with atypical symptoms, and individuals at increased risk (family...

DGLDN - Overview: Gliadin (Deamidated) Antibodies Evaluation, IgG and IgA, Serum

Assessment of deaminated gliadin IgA and IgG antibodies for evaluating patients suspected of having celiac disease, including patients with compatible clinical symptoms, patients with atypical symptoms, and individuals at increased risk...

HBGSN - Overview: Hepatitis B Virus Surface Antigen Screen, Serum

Diagnosis of acute, recent, or chronic hepatitis B Determination of chronic hepatitis B status This test is not offered as a screening or confirmatory test for blood donor specimens. This test is not useful for diagnosis of hepatitis...

HBAG - Overview: Hepatitis B Virus Surface Antigen, Serum

Diagnosis of acute, recent, or chronic hepatitis B Determination of chronic hepatitis B status This test should not be used as a screening or confirmatory test for blood donor specimens.

HITIG - Overview: Heparin-PF4 IgG Antibody, Serum

Detection of IgG antibodies directed against heparin/platelet factor 4 complexes that are implicated in the pathogenesis of immune-mediated type II heparin-induced thrombocytopenia, spontaneous heparin platelet-factor 4 IgG antibody, and...

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

NGSFX - Overview: Reanalysis of Acute Myeloid Leukemia 4- or 11- Gene Panels, Additional Genes

Comprehensive reanalysis of a larger set of genes/gene regions when a more targeted gene panel was previously performed in this laboratory Evaluation of known or suspected hematologic neoplasms, specifically of myeloid origin (eg, acute...

SMN1Z - Overview: SMN1 Gene, Full Gene Analysis, Varies

Confirming a diagnosis of spinal muscular atrophy due to nucleotide variants in SMN1 gene Second-tier carrier screening when there is a family history of spinal muscular atrophy, but an affected individual is not available for testing, or...

TBIDS - Overview: Culture Referred for Identification, Mycobacterium and Nocardia with Antimicrobial Susceptibility Testing, Varies

Rapid identification to the species level and susceptibility testing for Mycobacterium species, Nocardia species, and other aerobic actinomycete genera and species from pure culture isolates

LPLFX - Overview: Lymphoplasmacytic Lymphoma/Waldenstrom Macroglobulinemia, MYD88 L265P with Reflex to CXCR4, Varies

Establishing a diagnosis of lymphoplasmacytic lymphoma/Waldenstrom macroglobulinemia (LPL/WM) Helping distinguish LPL/WM low-grade B-cell lymphoma from other subtypes Aiding in the prognosis and clinical management of lymphoplasmacytic...

MPNR - Overview: Myeloproliferative Neoplasm, JAK2 V617F with Reflex to CALR and MPL, Varies

Aiding in the distinction between a reactive cytosis and a chronic myeloproliferative disorder Evaluating for variants in JAK2, CALR, and MPL genes in an algorithmic process

TTGG - Overview: Tissue Transglutaminase Antibody, IgG, Serum

Individuals with IgA deficiency Evaluating patients suspected of having celiac disease, including patients with compatible clinical symptoms, patients with atypical symptoms, and individuals at increased risk (family history, previous...

TTGA - Overview: Tissue Transglutaminase Antibody, IgA, Serum

Assessment of tissue transglutaminase IgA antibodies for evaluating patients suspected of having celiac disease, including patients with compatible clinical symptoms, patients with atypical symptoms, and individuals at increased risk...

TSTGP - Overview: Tissue Transglutaminase Antibodies, IgA and IgG Profile, Serum

Evaluating patients suspected of having celiac disease, including patients with compatible clinical symptoms, patients with atypical symptoms, and individuals at increased risk (family history, previous diagnosis with associated disease,...

GAST - Overview: Gastrin, Serum

Investigation of patients with achlorhydria or pernicious anemia Investigation of patients suspected of having Zollinger-Ellison syndrome Diagnosis of gastrinoma

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...

CHBVS - Overview: Chronic Hepatitis B Screen, Serum

Diagnosis and evaluation of patients at risk for or suspected of having chronic hepatitis B This test is not offered as a screening or confirmatory test for blood donor specimens. This test is not useful during the "window period" of...

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...

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...

MOGFS - Overview: Myelin Oligodendrocyte Glycoprotein (MOG-IgG1) Fluorescence-Activated Cell Sorting (FACS) Assay, Serum

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...

HFET - Overview: Hereditary Hemochromatosis, HFE Variant Analysis, Varies

Establishing or confirming the clinical diagnosis of hereditary hemochromatosis (HH) in adults Testing of individuals with increased serum transferrin-iron saturation and ferritin Predictive testing of individuals who have a family...

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

ADPKP - Overview: Focused Autosomal Dominant Polycystic Kidney Disease Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of autosomal dominant polycystic kidney disease Establishing a diagnosis of autosomal dominant polycystic kidney disease

AAQP - Overview: Amino Acids, Quantitative, Plasma

Evaluating patients with possible inborn errors of metabolism using plasma specimens May aid in evaluation of endocrine disorders, liver diseases, muscle diseases, neoplastic diseases, neurological disorders, nutritional disturbances,...

ENC2 - Overview: Encephalopathy, Autoimmune/Paraneoplastic Evaluation, Spinal Fluid

Evaluating new onset encephalopathy (noninfectious or metabolic) comprising confusional states, psychosis, delirium, memory loss, hallucinations, movement disorders, sensory or motor complaints, seizures, dyssomnias, ataxias, nausea,...

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,...

JIP - Overview: Joint Infection Panel, PCR, Synovial Fluid

Rapid detection of synovial fluid infections caused by the following: Anaerococcus prevotii/vaginalis Finegoldia magna Streptococcus species Clostridium perfringens Parvimonas micra Streptococcus agalactiae Cutibacterium...

CDIFS - Overview: Clostridioides difficile Culture with Antimicrobial Susceptibilities, Varies

Providing an isolate suitable for antimicrobial susceptibility testing to direct antimicrobial therapy of extraluminal infections and in cases of treatment failure

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

PBCPN - Overview: Primary Biliary Cholangitis Antibody Panel, Serum

Evaluation of at-risk or previously diagnosed primary biliary cholangitis patients with new features of other liver diseases or systemic autoimmune diseases

NENZ - Overview: Red Blood Cell Enzyme Disorders Gene Panel, Next-Generation Sequencing, Varies

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of an underlying red blood cell enzymopathy Identifying variants within genes associated with phenotypic severity, allowing for...

FIBRO - Overview: FibroTest-ActiTest, Serum

Evaluating hepatic fibrosis in chronic hepatitis C patients Diagnosing fibrosis in carriers of chronic hepatitis B virus Evaluating hepatic fibrosis in co-infected HIV carriers Providing access to new-generation non-interferon...

MFRGG - Overview: Marfan, Loeys-Dietz, and Aortopathy Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of Marfan syndrome and related conditions Establishing a diagnosis for Marfan syndrome, Loeys-Dietz syndrome, vascular Ehlers-Danlos syndrome,...

ALUPP - Overview: Lupus Anticoagulant Profile, Plasma

Confirming or excluding the presence of lupus anticoagulant (LA), distinguishing LA from specific coagulation factor inhibitors and nonspecific inhibitors Investigating a prolonged activated thromboplastin time, especially when combined...

Site Search

Second-Tier Assay for MPS I Newborn Screening Shows Remarkable Reduction of False Positives - Insights...

Mucopolysaccharidosis type I (MPS I) is a rare genetic disorder that typically presents with progressive multisystem involvement in early childhood. This condition results from the deficiency of the enzyme...

webinar on implementation of high-sensitivity troponin I assay - Insights

Cardiovascular Diseases, will be presenting a webinar on the implementation of a high-sensitivity troponin I assay. The webinar will be held February 13 from 1:00-2:00 p.m. eastern....

Should I Stay or Should I Go? - Insights

In this episode of “Lab Medicine Rounds,” host Justin Kreuter, M.D., and Rondell Graham, M.B.B.S., delve into the critical decisions involved in contemplating a role on the staff at the institution where you receive your training.

often oversimplified & misunderstood technology--Part I

In the last decade, genetic testing has evolved from single-gene Sanger based assays to much more complex next-generation sequencing (NGS) based assays.

inform novel treatments for kidney stones - Part I - Insights

A collaborative study between Mayo Clinic and the University of Illinois debunked the previous consensus about how kidney stones grow.