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Test Catalog

GP210 - Overview: GP210 Antibody, IgG, Serum

Evaluating the risk of primary biliary cholangitis in anti-mitochondrial antibody (AMA)-negative patients by identification of gp210 antibodies Estimating risk in AMA-positive patients with incomplete feature of disease

OXNP - Overview: Oxysterols, Plasma

Investigating a possible diagnosis of Niemann-Pick disease types A, B, or C using plasma specimens Monitoring of individuals with Niemann-Pick type C disease This test is not useful for the identification of carriers.

OXYWB - Overview: Oxysterols, Blood

Investigating a possible diagnosis of Niemann-Pick disease type A, B, or C using whole blood specimens Monitoring of individuals with Niemann-Pick type C disease This test is not useful for the identification of carriers.

PSPTG - Overview: Phosphatidylserine/Prothrombin Antibody, IgG, Serum

Detecting IgG antibodies against phosphatidylserine/prothrombin complex in patients with strong suspicion of antiphospholipid syndrome (APS) who are negative for the APS criteria laboratory tests (lupus anticoagulant, IgG and IgM...

PHD2 - Overview: Prolyl Hydroxylase Domain-2 (PHD2/EGLN1) Gene Sequencing, Whole Blood

Assessing PHD2/EGLN1 in the evaluation of an individual with JAK2-negative erythrocytosis associated with lifelong sustained increased red blood cell (RBC) mass, elevated RBC count, hemoglobin, or hematocrit

EPOR - Overview: Erythropoietin Receptor (EPOR) Gene, Exon 8 Sequencing, Whole Blood

Assessing EPOR in the evaluation of an individual with JAK2-negative erythrocytosis associated with lifelong sustained increased red blood cell (RBC) mass, elevated RBC count, hemoglobin, or hematocrit

ADNA1 - Overview: Double-Stranded DNA (dsDNA) Antibodies, IgG, Serum

Evaluating patients with clinical features or at-risk for systemic lupus erythematosus (SLE) Monitoring disease activity, as an adjunct test, in patients with SLE previously positive for double-stranded DNA IgG antibodies

SP100 - Overview: SP100 Antibody, IgG, Serum

Evaluating the risk of primary biliary cholangitis in anti-mitochondrial antibody (AMA) negative patients by identification of Sp100 antibodies Estimating risk in AMA-positive patients with incomplete feature of disease

17OHP - Overview: 17-Hydroxypregnenolone, Serum

As an ancillary test for congenital adrenal hyperplasia (CAH), particularly in situations in which a diagnosis of both 21- and 11-hydroxylase deficiency have been ruled out Confirming a diagnosis of 3-beta-hydroxysteroid dehydrogenase...

PANCP - Overview: Hereditary Pancreatic Cancer Panel, Varies

Evaluating patients with a personal or family history suggestive of a hereditary pancreatic cancer syndrome Establishing a diagnosis of a hereditary pancreatic cancer syndrome, allowing for targeted cancer surveillance based on associated...

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

ESR1T - Overview: ESR1 Mutation Analysis, Next-Generation Sequencing, Tumor

Assisting in the clinical management of patients with metastatic breast cancer by identifying tumors with evolving resistance to endocrine therapy Stratifying prognosis of metastatic breast cancer

JO1 - Overview: Jo 1 Antibodies, IgG, Serum

Evaluating patients with clinical features of idiopathic inflammatory myositis, especially those with clinical features suggestive of anti-synthetase syndrome or interstitial lung disease

MPO - Overview: Myeloperoxidase Antibodies, IgG, Serum

Evaluating patients with clinical features anti-neutrophil cytoplasmic antibody associated vasculitis, specifically granulomatosis with polyangiitis, microscopic polyangiitis (MPA), and eosinophilic granulomatosis with polyangiitis...

PSYCF - Overview: Psychosine, Spinal Fluid

Aiding in the biochemical diagnosis of Krabbe disease using cerebrospinal fluid specimens Follow-up of individuals affected with Krabbe disease Follow-up testing after an abnormal newborn screening result for Krabbe disease Monitoring...

PIPU - Overview: Pipecolic Acid, Random, Urine

Differentiating between disorders of peroxisomal biogenesis (eg, Zellweger syndrome) and disorders with loss of a single peroxisomal function Detecting abnormal elevations of pipecolic acid in urine

RNP - Overview: RNP Antibodies, IgG, Serum

Evaluating patients with signs and symptoms of a connective tissue disease in whom the test for antinuclear antibodies is positive Testing for ribonucleoprotein particle antibodies is not useful in patients without demonstrable...

DOCK8 - Overview: Dedicator of Cytokinesis 8 (DOCK8) Deficiency, Blood

Aiding in the diagnosis of dedicator of cytokinesis 8 (DOCK8) deficiency This test is not useful for assessing DOCK8 carrier status.

PIPA - Overview: Pipecolic Acid, Serum

Differentiating between disorders of peroxisomal biogenesis (eg, Zellweger syndrome) and disorders with loss of a single peroxisomal function Detecting abnormal elevations of pipecolic acid in serum

AB2GP - Overview: Beta-2 Glycoprotein 1 Antibodies, IgA, Serum

Evaluating patients with suspected antiphospholipid syndrome by identification of beta-2 glycoprotein 1 IgA antibodies Evaluating patients at-risk for antiphospholipid syndrome (APS) who are negative for criteria APS tests Estimating the...

NMOFS - Overview: Neuromyelitis Optica (NMO)/Aquaporin-4-IgG Fluorescence-Activated Cell Sorting (FACS) Assay, Serum

Diagnosis of a neuromyelitis optica spectrum disorder (NMOSD) Diagnosis of autoimmune AQP4 channelopathy Diagnosis of neuromyelitis optica (NMO) Distinguishing NMOSD from multiple sclerosis early in the course of disease

FGF1F - Overview: FGFR1 (8p11.2) Amplification, FISH, Tissue

Providing prognostic information and guiding treatment primarily for patients with squamous cell carcinoma of the lung, breast, esophagus, thymus, and other locations

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

ADEVL - Overview: Alzheimer Disease Evaluation, Spinal Fluid

Assessment of adults with cognitive impairment being evaluated for Alzheimer disease and other causes of cognitive impairment These assays should not be used to predict the development of dementia or other neurologic conditions or to...

BHSF - Overview: Beta-Human Chorionic Gonadotropin, Quantitative, Spinal Fluid

Aiding in the diagnosis of brain metastases of testicular cancer or extragonadal intracerebral germ cell tumors

AC1Q - Overview: Anti-C1q Antibodies, IgG, Serum

Evaluating patients with suspected anti-C1q vasculitis Predicting renal involvement in patients with systemic lupus erythematosus Detection of anti-C1q antibodies in serum

CALX - Overview: CALR Mutation Analysis, Myeloproliferative Neoplasm (MPN), Reflex, Varies

Aiding in the distinction between a reactive cytosis and a chronic myeloproliferative disorder Evaluating mutations in CALR in an algorithmic process for the MPNR / Myeloproliferative Neoplasm, JAK2 V617F with Reflex to CALR and MPL,...

GALCR - Overview: Galactocerebrosidase Reflex, Leukocytes

Diagnosis of Krabbe disease as a confirmatory reflex of the six-enzyme panel Follow-up testing for evaluation of an abnormal newborn screening result for Krabbe disease This test is not recommended for carrier detection because of the...

GLYCS - Overview: Glycine Receptor Alpha1 IgG, Cell Binding Assay, Serum

Evaluating patients with suspected autoimmune stiff-person spectrum disorders (stiff-person syndrome, stiff-limb, stiff trunk or progressive encephalomyelitis with rigidity and myoclonus [PERM]) using serum specimens

GLYCC - Overview: Glycine Receptor Alpha1 IgG, Cell Binding Assay, Spinal Fluid

Evaluating patients with suspected autoimmune stiff-person spectrum disorders (stiff-person syndrome, stiff-limb, stiff trunk, or progressive encephalomyelitis with rigidity and myoclonus [PERM]) using spinal fluids specimens

GAL2 - Overview: Probability of Hepatocellular Carcinoma, Serum

Calculation of the risk for patients with chronic liver disease to develop hepatocellular carcinoma

CYTH1 - Overview: T-Helper Cell Type 1 Cytokine Panel, Plasma

Assessment of plasma cytokine levels to understand the etiology of autoimmune and proinflammatory conditions when used in conjunction with clinical information and other laboratory testing

HPP - Overview: Pancreatic Polypeptide, Plasma

Detecting pancreatic endocrine tumors Assessing vagal nerve function after meal or sham feeding

XCP - Overview: Hereditary Expanded Cancer Panel, Varies

Evaluating hereditary cancer in patients with a personal or family history suggestive of a hereditary cancer syndrome using a panel of 87 genes Establishing a diagnosis of a hereditary cancer syndrome allowing for targeted cancer...

CVHBG - Overview: Comprehensive Cerebrovascular Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of a monogenic condition in which there is an increased risk for a cerebrovascular accident Establishing a diagnosis of a monogenic condition in which...

COMCP - Overview: Hereditary Common Cancer Panel, Varies

Evaluating hereditary cancer for patients with a personal or family history suggestive of a hereditary cancer syndrome using a panel of 36 genes Establishing a diagnosis of a hereditary cancer syndrome allowing for targeted cancer...

AGNTC - Overview: Anti-Glial/Neuronal Nuclear Antibody-Type 1 (AGNA-1) Titer, Spinal Fluid

Reporting an end titer result from cerebrospinal fluid (CSF) specimens Serological evaluation using CSF specimens from patients who present with a subacute neurological disorder of undetermined etiology, especially those with risk factors...

AGNTS - Overview: Anti-Glial/Neuronal Nuclear Antibody-Type 1 (AGNA-1) Titer, Serum

Reporting an end titer result from serum specimens Serological evaluation using serum specimens from patients who present with a subacute neurological disorder of undetermined etiology, especially those with risk factors for primary lung...

ANCA - Overview: Cytoplasmic Neutrophil Antibodies, Serum

Evaluating patients with clinical features of ANCA-associated vasculitis, specifically granulomatosus with polyangiitis, microscopic polyangiitis, and eosinophilic granulomatosus with polyangiitis

CRMTS - Overview: Collapsin Response-Mediator Protein-5 (CRMP-5) Neuronal IgG Titer, Serum

Evaluation of neurological autoimmunity particularly that associated with small-cell lung carcinoma and thymoma Reporting an end titer result from serum specimens

PAI1 - Overview: Plasminogen Activator Inhibitor Antigen, Plasma

Identification of heredity elevation or deficiency of plasminogen activator inhibitor type 1 Determination of risk for veno-occlusive disease associated with bone marrow transplantation Differential diagnosis of impaired fibrinolysis...

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helps in diagnosis, treatment, and prognosis of ALS and MS - Insights

neurofilament light chain (Nfl) proteins in blood, clinicians can better diagnose devastating diseases like ALS and MS, help predict disease progression, and better assess efficacy of existing drugs and trial therapies...

Frontotemporal dementia and ALS - Insights

Learn more about how detection of amyotrophic lateral sclerosis and frontotemporal dementia paved the way for gene-targeted therapies for patients.

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1939: Lou Gehrig Comes to Mayo Clinic #ThrowbackThursday - Insights

June 1939, his name became associated with an illness called amyotrophic lateral sclerosis (ALS). Today, ALS is known as Lou Gehrig’s Disease....

Hereditary Alzheimer's disease and dementia - Insights

Learn about our genetic testing for Alzheimer’s disease, amyotrophic lateral sclerosis (ALS), frontotemporal dementia, and CADASIL....