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Test Catalog

SMAD4 - Overview: SMAD4 Immunostain, Technical Component Only

Identification of loss of SMAD4 (mothers against decapentaplegic homolog 4 drosophila) expression within pancreatic ductal adenocarcinoma

TRPS - Overview: Troponin T, 5th Generation, Plasma

Aiding in the exclusion of the diagnosis of acute coronary syndrome in a single plasma specimen Aiding in the diagnosis of acute coronary syndrome Monitoring acute coronary syndromes and estimating prognosis Possible utility in...

AMIO - Overview: Amiodarone, Serum

Monitoring amiodarone therapy, especially when amiodarone is coadministered with other drugs that may interact Evaluating possible amiodarone toxicity Assessing patient compliance

TB2LN - Overview: Susceptibility, Mycobacterium tuberculosis Complex, Second Line, Varies

Determination of Mycobacterium tuberculosis complex minimal inhibitory concentrations to second-line antimicrobial agents

PACP - Overview: Prostatic Acid Phosphatase, Serum

Aiding in predicting recurrence after radical prostatectomy for clinically localized prostate cancer Following response to androgen ablation therapy, when used in conjunction with prostate-specific antigen

MMAU - Overview: Methylmalonic Acid, Quantitative, Urine

Evaluating children with signs and symptoms of methylmalonic acidemia using urine specimens Evaluating individuals with signs and symptoms associated with a variety of causes of vitamin B12 (cobalamin) deficiency

TRYPP - Overview: Tryptophan, Plasma

Investigating inadequate tryptophan intake and monitoring dietary treatment

LGBWB - Overview: Globotriaosylsphingosine, Blood

Screening of patients with Fabry disease when a serum specimen is not available This test should not be used for newborn screening followup.

CFRCS - Overview: Bacterial Culture, Cystic Fibrosis with Antimicrobial Susceptibilities, Varies

Detecting disease-causing aerobic bacteria in specimens from patients with cystic fibrosis Determining the in vitro antimicrobial susceptibility of potentially pathogenic aerobic bacteria, if appropriate

BCRFX - Overview: BCR/ABL1 Qualitative Diagnostic Assay with Reflex to BCR/ABL1 p190 Quantitative Assay or BCR/ABL1 p210 Quantitative Assay, Varies

Diagnostic workup of patients with high probability of BCR::ABL1-positive hematopoietic neoplasms, predominantly chronic myeloid/myelogenous leukemia and acute lymphoblastic leukemia

ARVGG - Overview: Arrhythmogenic Cardiomyopathy Gene Panel, Varies

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

CORTO - Overview: Cortisol, Free and Total, Serum

Assessment of cortisol status in cases where there is known or a suspected abnormality in cortisol-binding proteins or albumin Assessment of adrenal function in the critically ill or stressed patient, thus preventing unnecessary use of...

GCT - Overview: Galactosemia Reflex, Blood

Preferred test for diagnosis, carrier detection, and determination of genotype of galactose-1-phosphate uridyltransferase deficiency, the most common cause of galactosemia Differentiating Duarte variant galactosemia from classic...

MDSDF - Overview: Myelodysplastic Syndrome (MDS), Diagnostic FISH, Varies

Detecting a neoplastic clone associated with the common chromosome abnormalities seen in patients with myelodysplastic syndromes or other myeloid malignancies using a laboratory-designated probe set algorithm Evaluating specimens in which...

PTNZ - Overview: PTEN Hamartoma Tumor Syndrome, PTEN Full Gene Analysis, Varies

Evaluating patients with a personal or family history suggestive of PTEN hamartoma tumor syndrome (PHTS) Establishing a diagnosis of PHTS allowing for targeted cancer surveillance based on associated risks Identifying variants within...

QFT4 - Overview: QuantiFERON-TB Gold Plus, Blood

Indirect test for Mycobacterium tuberculosis infection, to be used in conjunction with risk assessment, radiography, and other medical and diagnostic evaluations This test is not recommended for use for diagnosis of active tuberculosis...

PQNU - Overview: Porphyrins, Quantitative, 24 Hour, Urine

Preferred screening test for congenital erythropoietic porphyria and porphyria cutanea tarda and during symptomatic periods for acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria when specimen transport will be...

PGDBS - Overview: Plasmalogens, Blood Spot

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)...

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...

G6PDC - Overview: Glucose 6 Phosphate Dehydrogenase Enzyme Activity, Blood

Evaluation of individuals with episodic or chronic Coombs-negative nonspherocytic hemolytic anemia Rapid testing to assess glucose-6-phosphate dehydrogenase (G6PD) enzyme capacity prior to rasburicase or other therapies that may cause...

MTBRP - Overview: Mycobacterium tuberculosis Complex, Molecular Detection, PCR, Varies

Rapid detection of Mycobacterium tuberculosis complex DNA (preferred method) Detection of M tuberculosis, when used in conjunction with mycobacterial culture This test does not assess M tuberculosis rifampin resistance. This test...

NGTCL - Overview: MayoComplete T-Cell Lymphoma, Next-Generation Sequencing, Varies

Aiding in establishing diagnosis, refining prognosis, and potentially identifying targeted therapies for the optimal management of patients with T-cell lymphomas

LYMPV - Overview: Lyme Disease, Molecular Detection, PCR, Varies

Supporting the diagnosis of Lyme disease in conjunction with serologic testing Specific indications including testing skin biopsies when a rash lesion is not characteristic of erythema migrans and testing synovial fluid or synovium to...

3A4Q - Overview: Cytochrome P450 3A4 Genotype, Varies

Aids in determining therapeutic strategies for drugs that are metabolized by cytochrome P450 3A4, including quetiapine This test is not useful for managing patients receiving fluvastatin, rosuvastatin, or pravastatin since these drugs are...

3A5Q - Overview: Cytochrome P450 3A5 Genotype, Varies

Aids in optimizing treatment with tacrolimus and other drugs metabolized by cytochrome P450 3A5

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...

DPYDQ - Overview: Dihydropyrimidine Dehydrogenase Genotype, Varies

Identifying individuals with genetic variants in DPYD who are at increased risk of toxicity when prescribed 5-fluorouracil (5-FU) or capecitabine chemotherapy treatment

MCECP - Overview: MayoComplete Endometrial Carcinoma Panel, Next-Generation Sequencing, Tumor

Primarily for determining if patients will respond to targeted therapy Assessment of microsatellite instability for immunotherapy decisions Molecular-based classification of endometrial carcinoma

MCKCP - Overview: MayoComplete Kidney Cancer Panel, Next-Generation Sequencing, Tumor

Identifying specific mutations to assist in tumor diagnosis/classification Assisting in the clinical management of patients with renal cell carcinoma Assessment of microsatellite instability for immunotherapy decisions

KRABZ - Overview: Krabbe Disease, Full Gene Analysis and Large (30 kb) Deletion, Varies

Second-tier test for confirming a diagnosis of Krabbe disease Carrier testing for individuals with a family history of Krabbe disease in the absence of known sequence variants in the family

DMITO - Overview: Mitochondrial DNA Deletion Heteroplasmy, ddPCR, Varies

Assessing the heteroplasmy level of previously detected large mitochondrial DNA (mtDNA) deletions. Screening family members for previously detected large mtDNA deletions. This test is not recommended for first tier diagnostic testing...

HCMGG - Overview: Hypertrophic Cardiomyopathy Gene Panel, Varies

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

AHUSD - Overview: Atypical Hemolytic Uremic Syndrome Complement Panel, Serum and Plasma

Detecting deficiencies in the alternative pathway that can cause atypical-hemolytic uremic syndrome, dense deposit disease, and C3 glomerulonephritis A second-tier test that aids in the differential diagnosis of thrombotic...

MUGS - Overview: Hexosaminidase A, Serum

Second-order test for diagnosing the B1 variant of Tay-Sachs disease This test is not useful for testing for Sandhoff disease.

GNSPD - Overview: Platelet Storage Pool Deficiency Gene Panel, Next-Generation Sequencing, Varies

Evaluating hereditary platelet storage pool deficiencies in patients with a personal or family history suggestive of a hereditary platelet storage pool deficiency Diagnosing hereditary platelet storage pool deficiencies for patients in...

GNPFD - Overview: Platelet Function Defect Gene Panel, Next-Generation Sequencing, Varies

Diagnosing hereditary platelet function defect disorders for patients who have a distinct platelet function defect pattern, such as Bernard-Soulier syndrome, revealed by laboratory phenotypic testing Confirming a hereditary platelet...

TALMF - Overview: T-Cell Acute Lymphoblastic Leukemia/Lymphoma (ALL), Specified FISH, Varies

Detecting recurrent common chromosome abnormalities associated with T-cell acute lymphoblastic leukemia/lymphoma (T-ALL) using client-specified probes An adjunct to conventional chromosome studies in patients with T-ALL Evaluating...

TALAF - Overview: T-Cell Acute Lymphoblastic Leukemia/Lymphoma (ALL), FISH, Adult, Varies

Detecting, at diagnosis, recurrent common chromosome abnormalities associated with T-cell acute lymphoblastic leukemia/lymphoma (T-ALL) in adult patients As an adjunct to conventional chromosome studies in patients with T-ALL Evaluating...

PAVAL - Overview: Paraneoplastic, Autoantibody Evaluation, Serum

Serological 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...

ALDU - Overview: Aldosterone, 24 Hour, Urine

Investigating primary aldosteronism (eg, adrenal adenoma/carcinoma and adrenal cortical hyperplasia) and secondary aldosteronism (renovascular disease, salt depletion, potassium loading, cardiac failure with ascites, pregnancy, Bartter...

RALB1 - Overview: Albumin, Random, Urine

Assessing the potential for early onset of nephropathy in diabetic patients using random urine specimens

ALKD5 - Overview: Anaplastic Lymphoma Kinase (ALK[D5F3]) Immunostain, Technical Component Only

Identification of anaplastic lymphoma kinase overexpression Diagnosis of lung adenocarcinoma and inflammatory myofibroblastic tumor

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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....