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Test Catalog

PGRBC - Overview: Plasmalogens, Blood

Diagnosing patients with possible peroxisomal disorders, such as peroxisomal biogenesis disorders (Zellweger syndrome spectrum) and rhizomelic chondrodysplasia punctata (RCDP), including fatty acyl-CoA reductase 1 (FAR1) deficiency...

XL2T - Overview: FOXL2 Mutation Analysis, Next-Generation Sequencing, Tumor

Assisting in the clinical diagnosis of adult granulosa cell tumor by assessing gene targets with in the FOXL2 gene

WGSEQ - Overview: Gamma-Globin Full Gene Sequencing, Varies

An adjunct in the interpretation of hemoglobin electrophoresis results Evaluation for suspected gamma variants or nondeletional hereditary persistence of fetal hemoglobin Assessment of unstable gamma chain variants when other tests for...

LPCBS - Overview: Lysophosphatidylcholines, LC MS/MS, Blood Spot

Second-tier newborn screen for X-linked adrenoleukodystrophy This test is not intended for metabolic screening of symptomatic patients. This test is supplemental and not intended to replace state mandated newborn screening.

MSTF - Overview: Myeloid Sarcoma, FISH, Tissue

Supporting the diagnosis of myeloid sarcoma when coordinated with a surgical pathology consultation

TLPMF - Overview: T-Cell Lymphoma, Specified FISH, Varies

Detecting, at diagnosis, common chromosome abnormalities associated with specific T-cell lymphoma subtypes using client specified probes

OHPG - Overview: 17-Hydroxyprogesterone, Serum

Screening test for congenital adrenal hyperplasia (CAH), caused by either 11- or 21-hydroxylase deficiency, when used in combination with testing for cortisol and androstenedione As part of a battery of tests to evaluate women with...

HIAAR - Overview: 5-Hydroxyindoleacetic Acid, Random, Urine

Biochemical diagnosis and monitoring of intestinal carcinoid syndrome using random urine specimens

EPCRB - Overview: Ehrlichia/Anaplasma, Molecular Detection, PCR, Blood

Evaluating patients suspected of acute anaplasmosis or ehrlichiosis This test should not be used for screening asymptomatic individuals.

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

SASP - Overview: Aspergillus fumigatus, IgG Antibodies, Serum

Evaluation of patients suspected of having hypersensitivity pneumonitis (HP) induced by exposure to Aspergillus fumigatus Evaluation of patients suspected of having HP who have documented environmental exposures to high-humidity...

BHYD - Overview: Beta-Hydroxybutyrate, Serum

Monitoring therapy for diabetic ketoacidosis Investigating the differential diagnosis of any patient presenting to the emergency room with hypoglycemia, acidosis, suspected alcohol ingestion, or an unexplained increase in the anion gap...

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

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

CK - Overview: Creatine Kinase (CK), Serum

Diagnosing and monitoring myopathies or other trauma, toxin, or drug-induced muscle injury

CEA - Overview: Carcinoembryonic Antigen (CEA), Serum

Monitoring colorectal cancer and selected other cancers such as medullary thyroid carcinoma May be useful in assessing the effectiveness of chemotherapy or radiation treatment This test is not useful for screening the general population...

GABA - Overview: Gabapentin, Serum

Monitoring serum gabapentin concentrations Assessing compliance Adjusting dosage in patients

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

OMHC - Overview: Oxcarbazepine Metabolite, Serum

Monitoring serum concentration during oxcarbazepine therapy Assessing compliance Assessing potential toxicity

PDETS - Overview: Phosphodiesterase 10A (PDE10A) IgG, Tissue Immunofluorescence Titer, Serum

Reporting an end titer result from phosphodiesterase 10A (PDE10A) in serum specimens Evaluation of autoimmune/paraneoplastic neurological syndromes among patients presenting with movement disorders and encephalopathy

PDEIC - Overview: Phosphodiesterase 10A (PDE10A) IgG, Tissue Immunofluorescence, Spinal Fluid

Detecting phosphodiesterase 10A (PDE10A)-IgG in cerebrospinal fluid specimens Evaluation of autoimmune/paraneoplastic neurological syndromes among patients presenting with movement disorders and encephalopathy

PDETC - Overview: Phosphodiesterase 10A (PDE10A) IgG, Tissue Immunofluorescence Titer, Spinal Fluid

Reporting an end titer result from phosphodiesterase 10A (PDE10A) in spinal fluid specimens Evaluation of autoimmune/paraneoplastic neurological syndromes among patients presenting with movement disorders and encephalopathy

PDEIS - Overview: Phosphodiesterase 10A (PDE10A) IgG, Tissue Immunofluorescence, Serum

Detecting phosphodiesterase 10A (PDE10A)-IgG in serum specimens Evaluation of autoimmune/paraneoplastic neurological syndromes among patients presenting with movement disorders and encephalopathy

PALB - Overview: Prealbumin, Serum

Assessing nutritional status, especially in monitoring the response to nutritional support in the acutely ill patient

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

PLA2M - Overview: Phospholipase A2 Receptor, Monitoring, Enzyme-Linked Immunosorbent Assay, Serum

Distinguishing primary from secondary membranous nephropathy Monitoring patients with membranous nephropathy, over time, for trends in anti-phospholipase A2 receptor antibody levels

PLA2I - Overview: Phospholipase A2 Receptor, Immunofluorescence, Serum

Distinguishing primary from secondary membranous nephropathy in patients with low levels of anti-phospholipase A2 receptor (PLA2R) antibodies Screening for anti-PLA2R antibodies Monitoring patients with membranous nephropathy at very...

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

CITR2 - Overview: Citrate Concentration, Random, Urine

Diagnosing risk factors for patients with calcium kidney stones Monitoring results of therapy in patients with calcium stones or renal tubular acidosis

DULOX - Overview: Duloxetine, Serum

Monitoring duloxetine serum concentration during therapy Evaluating potential duloxetine toxicity Evaluating patient compliance

5BETH - Overview: Factor V Bethesda Units, Plasma

Detecting and quantifying the presence and titer of a specific factor inhibitor directed against coagulation factor V

FL - Overview: Fluoride, Plasma

Assessing accidental fluoride ingestion Monitoring patients receiving sodium fluoride for bone disease or patients receiving voriconazole therapy

FLUOX - Overview: Fluoxetine, Serum

Monitoring serum concentration of fluoxetine during therapy Evaluating potential toxicity Evaluating patient compliance

GBETH - Overview: General Factor Bethesda Units, Plasma

Detecting and quantifying the presence and titer of a specific factor inhibitor directed against a specific coagulation factor

LEVE - Overview: Levetiracetam, Serum

Monitoring serum concentration of levetiracetam, particularly in patients with kidney disease Assessing compliance with levetiracetam therapy Assessing potential toxicity of levetiracetam

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...

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...

TOPI - Overview: Topiramate, Serum

Monitoring serum concentrations of topiramate Assessing compliance Assessing potential toxicity

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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....