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Test Catalog

MAS1 - Overview: Myelopathy, Autoimmune/Paraneoplastic Evaluation, Serum

Evaluating patients with suspected autoimmune myelopathy, myelitis, and paraneoplastic myelopathy using serum specimens

AIAES - Overview: Axonal Neuropathy, Autoimmune/Paraneoplastic Evaluation, Serum

Evaluation of patients who present with a subacute neurological disorder of undetermined etiology, especially those with known risk factors for cancer Directing a focused search for cancer Investigating neurological symptoms that appear...

PLSD - Overview: Lysosomal and Peroxisomal Disorders Screen, Blood Spot

Evaluation of patients with a clinical presentation suggestive of a lysosomal disorder, specifically Gaucher, infantile neurovisceral or chronic visceral acid sphingomyelinase deficiency, Pompe, Krabbe, or Fabry disease, or...

CTDC - Overview: Connective Tissue Diseases Cascade, Serum

Evaluation of patients with signs and symptoms compatible with connective tissue diseases Initial evaluation of patients in clinical situations in which the prevalence of disease is low (6) This test is not recommended for: -Testing in...

AMYR - Overview: Beta-Amyloid Ratio (1-42/1-40), Spinal Fluid

Assisting in the evaluation of adult patients, aged 55 years and older, presenting with cognitive impairment and are being assessed for Alzheimer disease and other causes of cognitive decline This test is not intended as a screening or...

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...

NAGW - Overview: Hexosaminidase A and Total Hexosaminidase, Leukocytes

Carrier detection and diagnosis of Tay-Sachs disease Carrier detection and diagnosis of Sandhoff disease

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

PSY - Overview: Psychosine, Blood Spot

Aids in the biochemical detection of Krabbe disease and saposin A cofactor deficiency Second-tier testing or follow up testing after an abnormal newborn screening result in an infant for Krabbe disease This test is not capable of...

SZDIA - Overview: Sezary Diagnostic Flow Cytometry, Blood

Identifying immunophenotypically aberrant T-cell populations with restricted expression of T-cell receptor beta-chain constant in peripheral blood, to roughly assess the circulating tumor burden in cutaneous T-cell lymphomas

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

NGCLN - Overview: MayoComplete Chronic Lymphoid Neoplasms, Next-Generation Sequencing, Varies

Aiding in establishing diagnosis, refining prognosis, and potentially identifying targeted therapies for the optimal management of patients with chronic or low-grade B-cell lymphoid neoplasms

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,...

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

CSFP - Overview: Carrier Screen, Focused Panel, Varies

Expanded carrier screening for reproductive risk assessment purposes This test is not useful for clinical diagnosis of an affected individual.

MCCRC - Overview: MayoComplete Colorectal Cancer Panel, Next-Generation Sequencing, Tumor

Primarily for determining patient response to various targeted therapies or immunotherapy Predicting prognosis from microsatellite instability status

PNTOR - Overview: Streptococcus pneumoniae IgG Antibodies, Total, with Reflex, Serum

Assessing the IgG antibody response to active immunization with nonconjugated 23-valent pneumococcal vaccines Assessing the IgG antibody response to active immunization with conjugated 13-valent, 15-valent and 20-valent pneumococcal...

IDUAW - Overview: Alpha-L-Iduronidase, Leukocytes

Diagnosis of mucopolysaccharidosis I, Hurler, Scheie, and Hurler-Scheie syndromes in leukocytes This test is not useful for determining carrier status.

BCLL - Overview: IGH Somatic Hypermutation Analysis, B-Cell Chronic Lymphocytic Leukemia (B-CLL), Varies

Providing prognostic information in patients with newly diagnosed B-cell chronic lymphocytic leukemia This test is not intended for use in providing prognostic information for patient with other B-cell neoplasms or hematopoietic tumors.

FLCS - Overview: Immunoglobulin Free Light Chains, Serum

Monitoring serum from patients with monoclonal light chain diseases without a M-spike on protein electrophoresis May be useful as a diagnostic test in patients in whom there is a suspicion of primary systemic amyloidosis, light chain...

JAK2P - Overview: JAK2 (9p24.1) Rearrangement, Hematologic Disorders, FISH, Tissue

Providing diagnostic information for hematologic malignancies Aiding in the determination of whether a targeted JAK2 inhibitor could be useful for therapy

CDGN - Overview: Congenital Disorders of N-Glycosylation, Serum

Screening for N-linked congenital disorders of glycosylation Providing information on specific structural oligosaccharide abnormalities to potentially direct further genetic testing

RIB - Overview: Ribosome P Antibodies, IgG, Serum

As an adjunct in the diagnostic evaluation of patients with systemic lupus erythematosus (SLE) May be useful in the phenotypic stratification of SLE patients at risk for neuropsychiatric SLE, lupus nephritis and/or hepatitis

TYRSC - Overview: Tyrosinemia Follow-Up Panel, Self-Collect, Blood Spot

Monitoring of individuals with tyrosinemia type I (hepatorenal tyrosinemia) using a patient-collected specimen

SERPZ - Overview: SERPINA1 Gene, Full Gene Analysis, Varies

Identification of causative mutations when a deficient serum level of alpha-1-antitrypsin is not explained by routine testing, such as proteotyping, genotyping, or isoelectric focusing phenotyping. Determining the specific allelic variant...

IHC - Overview: Mismatch Repair (MMR) Protein Immunohistochemistry Only, Tumor

Evaluating tumor tissue to identify patients at risk for having hereditary nonpolyposis colon cancer/Lynch syndrome

VHLE - Overview: VHL Gene, Erythrocytosis, Mutation Analysis, Varies

Diagnosis of suspected JAK2-negative VHL-related erythrocytosis associated with lifelong sustained increased RBC mass, elevated RBC count, hemoglobin, or hematocrit

PMND1 - Overview: Primary Membranous Nephropathy Diagnostic Cascade, Serum

Distinguishing primary from secondary membranous nephropathy using an algorithmic approach Monitoring patients with membranous nephropathy at very low antibody titers Screening for anti-phospholipase A2 receptor antibodies

BRAFD - Overview: BRAF V600E/V600K Somatic Mutation Analysis, Tumor

Therapy selection for patients with cancer (eg, melanomas that may respond to BRAF inhibitors, colon cancers that may not respond to EGFR inhibitors) Aiding in the diagnosis/prognosis of certain cancers (eg, hairy cell leukemia, papillary...

Q10 - Overview: Coenzyme Q10, Reduced and Total, Plasma

Diagnosis of primary coenzyme Q10 (CoQ10) deficiencies in some patients who are not supplemented with CoQ10 Diagnosis of CoQ10 deficiency in mitochondrial disorders Monitoring CoQ10 status during treatment of various degenerative...

PYR - Overview: Pyruvic Acid, Blood

Screening for possible disorders of mitochondrial metabolism, when used in conjunction with blood lactate collected at the same time, to determine the lactate-to-pyruvate ratio

APOA1 - Overview: Apolipoprotein A1, Serum

Evaluating risk for atherosclerotic cardiovascular disease Aiding in the detection of Tangier disease

HPVHL - Overview: Human Papillomavirus (HPV) High/Low Risk, In Situ Hybridization

Detecting human papillomavirus for both low-risk (6, 11) and high-risk (16, 18, 26, 31, 33, 35, 39, 45, 51, 52, 53, 56, 58, 59, 66, 68, 73, and 82.) genotypes

CHLE - Overview: Cholesteryl Esters, Serum

Establishing a diagnosis of lecithin-cholesterol acyltransferase deficiency Evaluating the extent of metabolic disturbance by bile stasis or liver disease

NF4FS - Overview: Neurofascin-155 IgG4, Flow Cytometry, Serum

Evaluating patients with an underlying demyelinating neuropathy Diagnosis of a neurofascin-155 IgG4 mediated neuropathy

PFN - Overview: Propafenone, Serum

Monitoring propafenone therapy Assessing potential propafenone toxicity

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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....