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Test Catalog

ISNP - Overview: Inherited Sensory Neuropathy Gene Panel, Varies

Establishing a molecular diagnosis for patients with hereditary sensory (HSN) and autonomic neuropathy (HSAN) Identifying variants within genes known to be associated with HSN and HSAN, allowing for predictive testing of at-risk family...

IMNP - Overview: Inherited Motor Neuropathy Gene Panel, Varies

Establishing a molecular diagnosis for patients with distal hereditary motor neuropathy (dHMN) Identifying variants within genes known to be associated with dHMN, allowing for predictive testing of at-risk family members

Algorithms - Mayo Clinic Laboratories

Test Catalog AlgorithmsDownload Test Catalog & Interpretive HandbookNew TestsNY State Informed Consent TestsPerforming LocationsReferred TestsSpecialty TestingTest Updates...

MPNML - Overview: MPL Exon 10 Sequencing, Reflex, Varies

Aiding in the distinction between a reactive cytosis and a myeloproliferative neoplasm when JAK2 V617F testing result is negative Evaluates for variants in MPL in an algorithmic process for MPNCM / Myeloproliferative Neoplasm, CALR with...

CMMPP - Overview: Cobalamin, Methionine, and Methylmalonic Acid Pathways, Plasma

Screening and monitoring patients suspected of or confirmed with an inherited disorder of methionine, cobalamin, or propionate metabolism using plasma specimens Evaluating individuals with suspected deficiency of vitamin B12

CMMPS - Overview: Cobalamin, Methionine, and Methylmalonic Acid Pathways, Serum

Screening and monitoring patients suspected of or confirmed with an inherited disorder of methionine, cobalamin, or propionate metabolism using serum specimens Evaluating individuals with suspected deficiency of vitamin B12

IL1B - Overview: Interleukin-1 Beta, Plasma

Measuring the concentration of interleukin-1 beta in plasma Evaluating patients experiencing inflammatory conditions, autoinflammatory disorders, and infection

FRUCT - Overview: Fructosamine, Serum

Monitoring intermediate (1-3 weeks) glycemic control Monitoring glycemic control in patients with shortened red blood cell survival

LID - Overview: Lidocaine, Serum

Assessing optimal lidocaine dosing during the acute management of ventricular arrhythmias following myocardial infarction or during cardiac manipulation such as surgery Assessing potential lidocaine toxicity

AATHI - Overview: Thrombophilia Profile Interpretation

Interpretation of testing performed as part of a profile to evaluate patients with thrombosis or hypercoagulability states including detecting a lupus-like anticoagulant; dysfibrinogenemia; disseminated intravascular...

MPAGP - Overview: Methylmalonic Aciduria-Propionic Aciduria Combined Gene Panel, Varies

Follow up for abnormal biochemical results suggestive of methylmalonic acidemia or propionic acidemia Establishing a molecular diagnosis for patients with methylmalonic acidemia or propionic acidemia Identifying variants within genes...

FXS - Overview: Fragile X Syndrome, Molecular Analysis, Varies

Confirming a diagnosis of fragile X syndrome, fragile X tremor/ataxia syndrome, or premature ovarian insufficiency caused by expansions in the FMR1 gene Determining carrier status for individuals with a family history of fragile X...

LIPOG - Overview: Lipodystrophy Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of a hereditary lipodystrophy Establishing a diagnosis of a hereditary lipodystrophy

APBTS - Overview: Adaptor Protein 3 Beta2 (AP3B2) Antibody, Tissue Immunofluorescence Titer, Serum

The differential diagnosis of patients presenting with mixed cerebellar and sensory ataxia and myeloneuropathy Reporting an end titer result from serum specimens

APBTC - Overview: Adaptor Protein 3 Beta2 (AP3B2) Antibody, Tissue Immunofluorescence Titer, Spinal Fluid

The differential diagnosis of patients presenting with mixed cerebellar and sensory ataxia and myeloneuropathy Reporting an end titer result from spinal fluid specimens

APBCC - Overview: Adaptor Protein 3 Beta2 (AP3B2) Antibody, Cell-Binding Assay, Spinal Fluid

The differential diagnosis of patients presenting with mixed cerebellar and sensory ataxia and myeloneuropathy Evaluating AP3B2 (adaptor protein 3 beta2)-IgG by cell-binding assay using spinal fluid specimens

APBCS - Overview: Adaptor Protein 3 Beta2 (AP3B2) Antibody, Cell-Binding Assay, Serum

The differential diagnosis of patients presenting with mixed cerebellar and sensory ataxia and myeloneuropathy Evaluating AP3B2 (adaptor protein 3 beta2)-IgG by cell-binding assay using serum specimens

BFCC - Overview: Cell Count and Differential, Body Fluid

Aiding in the diagnosis of joint disease, systemic disease, inflammation, malignancy, infection, and trauma

METR1 - Overview: Cytochrome b5 Reductase Enzyme Activity, Blood

Evaluation of patients with cyanosis Confirming cases of suspected cytochrome b5 reductase (methemoglobin reductase) deficiency Functional studies in families with cytochrome b5 reductase deficiency

NCDTS - Overview: Neurochondrin Antibody, Tissue Immunofluorescence Titer, Serum

Detecting neurochondrin-IgG in serum from patients presenting with cerebellar and brainstem syndrome Reporting an end titer result from serum specimens

NCDTC - Overview: Neurochondrin Antibody, Tissue Immunofluorescence Titer, Spinal Fluid

Detecting neurochondrin-IgG in spinal fluid (CSF) from patients presenting with cerebellar and brainstem syndrome Reporting an end titer result from CSF specimens

NCDCC - Overview: Neurochondrin Antibody, Cell-Binding Assay, Spinal Fluid

Evaluating neurochondrin-IgG by cell-binding assay using spinal fluid from patients presenting with cerebellar and brainstem syndrome

NCDCS - Overview: Neurochondrin Antibody, Cell-Binding Assay, Serum

Evaluating neurochondrin-IgG by cell-binding assay using serum from patients presenting with cerebellar and brainstem syndrome

PGK1 - Overview: Phosphoglycerate Kinase Enzyme Activity, Blood

Evaluation of individuals with Coombs-negative nonspherocytic hemolytic anemia, especially if X-linked inheritance pattern Evaluation of individuals with myopathic or neurologic symptoms

PGKC - Overview: Phosphoglycerate Kinase Enzyme Activity, Blood

Evaluation of individuals with Coombs-negative nonspherocytic hemolytic anemia, especially if X-linked inheritance pattern. Evaluation of individuals with myopathic or neurologic symptoms

SP7TC - Overview: Septin-7 Antibody, Tissue Immunofluorescence Titer, Spinal Fluid

Detecting septin-7 IgG in cerebrospinal fluid (CSF) specimens Reporting an end titer result from CSF specimens

T46CS - Overview: Tripartite Motif-Containing Protein 46 (TRIM46) IgG, Cell Binding Assay, Serum

Detecting tripartite motif-containing protein 46 (TRIM46)-IgG by cell-binding assay using serum specimens Evaluation of an autoimmune/paraneoplastic neurological syndrome among patients presenting with cerebellar ataxia, encephalitis, or...

NAACD - Overview: N-Acetylaspartic Acid, Canavan Disease, Random, Urine

Diagnosis and monitoring of individuals with Canavan disease Follow-up quantitation of abnormal organic acid elevations of N-acetylaspartic acid

CHLGP - Overview: Cholestasis Gene Panel, Varies

Establishing a molecular diagnosis for patients with monogenic cholestasis Identifying variants within genes known to be associated with primary, monogenic cholestasis, allowing for predictive testing of at-risk family members This panel...

GLT - Overview: Gluten, IgE, Serum

Establishing a diagnosis of an allergy to gluten Defining the allergen responsible for eliciting signs and symptoms Identifying allergens: -Responsible for allergic response and/or anaphylactic episode -To confirm sensitization prior to...

PCAB - Overview: Parietal Cell Antibodies, IgG, Serum

Evaluating patients suspected of having pernicious anemia or autoimmune-mediated deficiency of vitamin B12 with or without megaloblastic anemia

RBR - Overview: Retinol-Binding Protein, Random, Urine

Assessing renal tubular injury or dysfunction using random urine collections Screening for other tubular abnormalities Detecting chronic asymptomatic renal tubular dysfunction.(2)

UEBF - Overview: Urea Nitrogen, Body Fluid

Identifying the presence of urine as a cause for accumulation of fluid in a body compartment Assessing adequacy of peritoneal dialysis treatment protocols

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Alpha-gal testing [Test in Focus] - Insights

allergy to the alpha-gal molecule, and he describes a new allergen antibody test that can be used to detect it. Dr. Bornhorst also reviews other tests that should be used in conjunction with alpha-gal testing...

MCL Second Trimester Maternal Screening AlphaFetoprotein Quad Screen Patient Information MC1235123

AlphaFetoprotein Quad Screen Patient Information Complete print Reset Form Trimester Maternal Screening Alpha Fetoprotein Quad Screen Patient Information Patient Information required Patient...

Alpha_1_Antitrypsin.indd

Alpha1 Antitrypsin—A Comprehensive Testing Algorithm A1AT serum level and proteotype Order A1ALC / Alpha-1-Antitrypsin Proteotype S/Z by LC-MS/MS, Serum incl......

Neuroimmunology: Updates and antibody test utilization - Insights

In this month’s “Hot Topic,” Andrew McKeon, M.B., B.Ch., M.D., reviews the use of neurological phenotype-based evaluations, the move away from the paraneoplastic evaluation, and upcoming changes to test...

lysosomal_storage_disorders_diagnostic_algorithm__part_1.pdf

Order: IDUAW / Alpha-L-Iduronidase, Leukocytes Order 1 of the following: ■ BGA / Beta-Galactosidase, Leukocytes ■ MPS4B ■ MPS4W Order: FUCW / Alpha-Fucosidase, Leukocytes Order 1 of the following: MPS4W...