RSCGP - Overview: Nephrocalcinosis, Nephrolithiasis, and Renal Electrolyte Imbalance Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of a hereditary form of nephrocalcinosis, nephrolithiasis, or renal electrolyte imbalance Establishing a diagnosis for a variety of hereditary...

MCSTP - Overview: MayoComplete Solid Tumor Panel, Next-Generation Sequencing, Tumor

Assisting in tumor profiling for diagnosis, predicting prognosis, and identifying targeted therapies for the treatment and management of patients with solid tumors Identifying somatic alterations including single nucleotide variants, small...

NONCP - Overview: Neuro-Oncology Expanded Gene Panel with Rearrangement, Tumor

Identifying mutations and rearrangements that may support a diagnosis or help determine prognosis for patients with CNS tumors Identifying specific mutations and rearrangements within genes known to be associated with response or...

DCLNG - Overview: Dilated Cardiomyopathy and Left Ventricular Noncompaction Cardiomyopathy Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of a hereditary form of dilated cardiomyopathy or left ventricular noncompaction Establishing a diagnosis of a hereditary form dilated cardiomyopathy...

HIVDR - Overview: HIV-1 Genotypic Drug Resistance to Reverse Transcriptase, Protease, and Integrase Inhibitors, Plasma

Identifying HIV-1 genotypic mutations associated with resistance to nucleotide and non-nucleoside reverse-transcriptase inhibitors, protease inhibitors, and integrase strain transfer inhibitors Guiding initiation or change of combination...

ALT - Overview: Alanine Aminotransferase (ALT) (GPT), Serum

Diagnosis and monitoring of liver disease associated with hepatic necrosis

BUTAS - Overview: Butalbital, Serum

Monitoring butalbital therapy

MSCG - Overview: Collagenofibrotic Glomerulopathy Confirmation, Mass Spectrometry

Aiding in the diagnosis of collagenofibrotic glomerulopathy

C1Q - Overview: Complement C1q, Serum

Assessment of an undetectable total complement level Diagnosing congenital C1 (first component of complement) deficiency Diagnosing acquired deficiency of C1 inhibitor

CRSBF - Overview: Crystal Identification, Body Fluid

Identifying the presence and type of crystals in body fluid

EOSU1 - Overview: Eosinophils, Random, Urine

Investigation of possible acute interstitial nephritis

HGOU - Overview: Mercury Occupational Exposure, Random, Urine

Detecting mercury toxicity due to occupational exposure in random urine specimens

ALUPO - Overview: Lupus Anticoagulant Profile Interpretation

Interpretation of testing performed as part of a profile to confirme or exclude the presence of lupus anticoagulant (LAC), distinguishing LAC from specific coagulation factor inhibitors and nonspecific inhibitors Interpretation of testing...

ATR - Overview: Isoagglutinin Titer, Anti-A, Serum

Evaluation of individuals with possible hypogammaglobulinemia Investigation of suspected roundworm infections

BTR - Overview: Isoagglutinin Titer, Anti-B, Serum

Evaluation of individuals with possible hypogammaglobulinemia

LAGGT - Overview: Granulocyte Antibodies, Serum

Work-up of individuals having febrile, nonhemolytic transfusion reactions Detection of individuals with autoimmune neutropenia This test is not useful for the diagnosis of neutropenia caused by marrow suppression by drugs or tumors.

MEV0 - Overview: Methemoglobin Summary Interpretation

Incorporating and summarizing subsequent results into an overall interpretation for the MEV1 / Methemoglobinemia Evaluation, Blood

THSIF - Overview: Thrombospondin Type 1 Domain Containing 7A (THSD7A), Immunofluorescence

Diagnosis of thrombospondin type 1 domain-containing 7A (THSD7A)-associated membranous nephropathy

FBIOT - Overview: Vitamin B7, H (Biotin)

Vitamin B7, H (Biotin)

GNF13 - Overview: Factor XIII Deficiency, F13A1 and F13B Genes, Next-Generation Sequencing, Varies

Evaluating factor XIII deficiency (FXIIID) in patients with a personal or family history suggestive of FXIIID Confirming an FXIIID diagnosis with the identification of known or suspected disease-causing alterations in the F13A1 or F13B...

NHEP - Overview: Hereditary Erythrocytosis Gene Panel, Next-Generation Sequencing, Varies

Evaluating an individual with JAK2-V617F negative erythrocytosis associated with lifelong sustained increased red blood cell (RBC) mass, elevated RBC count, hemoglobin, or hematocrit Providing an extensive genetic evaluation for patients...

WBGDR - Overview: Beta-Globin Gene Cluster Deletion/Duplication, Blood

Determining the etiology of hereditary persistence of fetal hemoglobin (HPFH), delta-beta thalassemia, or other large deletions involving the beta-globin gene cluster Diagnosing less common causes of beta-thalassemia; these large...

BAIPD - Overview: Bile Acids for Peroxisomal Disorders, Serum

Biomarker for peroxisomal biogenesis disorders, such as Zellweger spectrum disorder and single enzyme defects of bile acid synthesis, including D-bifunctional protein deficiency and alpha methyl CoA racemases Monitoring patients receiving...

ADAMP - Overview: ADAMTS13 Activity with Reflex Inhibitor Profile, Plasma

Assisting with the diagnosis of immune or acquired thrombotic thrombocytopenic purpura

ABOPC - Overview: Arbovirus Antibody Panel, IgG and IgM, Spinal Fluid

Aiding in the diagnosis of arboviral encephalitis (California [LaCrosse], St Louis, Eastern equine, and Western equine encephalitis)

BA190 - Overview: BCR/ABL1, p190, mRNA Detection, Reverse Transcription-PCR (RT-PCR), Quantitative, Monitoring Assay, Varies

Monitoring response to therapy in patients with known e1/a2 BCR/ABL1 (p190) fusion forms

DRVI4 - Overview: Dilute Russell's Viper Venom Time (DRVVT) Interpretation

Interpreting mixing and confirmation assays for lupus anticoagulants

FAO - Overview: Fatty Acid Oxidation Probe Assay, Fibroblast Culture

In vitro confirmation of biochemical diagnoses of the following fatty acid oxidation disorders: -Short-chain acyl-CoA dehydrogenase deficiency -Medium-chain acyl-CoA dehydrogenase deficiency -Long-chain 3-hydroxyacyl-CoA dehydrogenase...

CULFB - Overview: Fibroblast Culture for Biochemical or Molecular Testing, Chorionic Villi/Products of Conception/Tissue

Producing cell cultures that can be used for enzymatic or molecular genetic analysis

DHEA_ - Overview: Dehydroepiandrosterone (DHEA), Serum

Diagnosing and differential diagnosis of hyperandrogenism (in conjunction with measurements of other sex steroids) As an initial screen in adults with bioavailable testosterone measurement that may be supplemented with measurements of sex...

CIDP - Overview: Chronic Inflammatory Demyelinating Polyradiculoneuropathy/Nodopathy Evaluation, Serum

Evaluating for chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) and related demyelinating peripheral neuropathies

CINP - Overview: Cortisol, Mass Spectrometry, Serum

Second-order testing when cortisol measurement by immunoassay (eg, CORT / Cortisol, Serum) gives results that are not consistent with clinical symptoms, or if patients are known to, or suspected of, taking exogenous synthetic steroids...

CORT - Overview: Cortisol, Serum

Discrimination between primary and secondary adrenal insufficiency Differential diagnosis of Cushing syndrome This test is not recommended for evaluating response to metyrapone.

HGEMP - Overview: Hydroxyglutaric Acids, Glutaric Acid, Ethylmalonic Acid, and Methylsuccinic Acid, Plasma

Evaluation of patients with an abnormal newborn screen showing elevations of glutarylcarnitine (C5-DC) using plasma specimens Evaluation of patients with abnormal newborn screens showing elevations of C4- acylcarnitine to aid in the...

HERMB - Overview: HER2, Breast, Semi-Quantitative Immunohistochemistry, Manual with HER2 FISH Reflex

Determining overexpression of HER2 protein on formalin-fixed, paraffin-embedded tissue sections

LYWB - Overview: Lyme Disease Antibody, Immunoblot, Serum

Aiding in the diagnosis of systemic Lyme disease This test should not be used as a screening assay.

FUSF - Overview: Low-Grade Fibromyxoid Sarcoma (LGFMS), 16p11.2 (FUS or TLS) Rearrangement, FISH, Tissue

Supporting the diagnosis of low-grade fibromyxoid sarcoma when used in conjunction with an anatomic pathology consultation

GPSYP - Overview: Glucopsychosine, Plasma

Second-tier test when newborn screening results with reduced beta-glucosidase (GBA) activity are identified Diagnosis and monitoring of patients with Gaucher disease using plasma specimens Supporting a biochemical diagnosis of Gaucher...

RMPQU - Overview: Monoclonal Protein Quantitation, Random, Urine

Identifying monoclonal gammopathies using random urine specimens

QMPTS - Overview: Monoclonal Protein Isotype, Quantitative, Serum

Aiding in the diagnosis and monitoring of monoclonal gammopathies if used in conjunction with free light chain studies This test alone is not considered an adequate screen for monoclonal gammopathies.

PDGF - Overview: PDGFB (22q13), Dermatofibrosarcoma Protuberans/Giant Cell Fibroblastoma, FISH, Tissue

Confirming the diagnosis of dermatofibrosarcoma protuberans (DFSP)/giant cell fibroblastoma (GCF) and excluding other spindle neoplasms that closely simulate the DFSP histology, including dermatofibroma (benign fibrous histiocytoma),...

PEE - Overview: Porphyrins Evaluation, Whole Blood

Establishing a biochemical diagnosis of erythropoietic protoporphyria and X-linked dominant protoporphyria

COVSQ - Overview: Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2), Spike Antibody, Semi-Quantitative, Serum

Aiding in the identification of individuals with an adaptive immune response to SARS-CoV-2, indicating prior infection or vaccination

PTOX - Overview: Toxoplasma gondii, Molecular Detection, PCR, Varies

Supporting the diagnosis of acute cerebral, ocular, disseminated, or congenital toxoplasmosis This test should not be used to screen healthy patients.

USPF - Overview: USP6 (17p13), Aneurysmal Bone Cyst and Nodular Fasciitis, FISH, Tissue

Supporting the diagnosis of aneurysmal bone cyst or nodular fasciitis

STFRP - Overview: Shiga Toxin, Molecular Detection, PCR, Feces

Sensitive, specific, and rapid detection of the presence of Shiga toxin-producing organisms such as Escherichia coli O157:H7 and Shigella dysenteriae type 1 in stool This test is not recommended as a test of cure.

3MT - Overview: 3-Methoxytyramine, 24 Hour, Urine

A first- and second-tier screening test for the presumptive diagnosis of catecholamine-secreting pheochromocytomas and paragangliomas Testing in conjunction or as an alternative to plasma metanephrines (PMET / Metanephrines, Fractionated,...

TPMT3 - Overview: Thiopurine Methyltransferase Activity Profile, Erythrocytes

Detection of individuals with low thiopurine methyltransferase (TPMT) activity who are at risk for excessive myelosuppression or severe hematopoietic toxicity when taking thiopurine drugs Detection of individuals with hyperactive TPMT...

AMOBS - Overview: Amobarbital, Serum

Monitoring amobarbital therapy

NH3V - Overview: Ammonia, Plasma

Assisting in the diagnosis of hepatic coma Investigating and monitoring treatment for inborn errors of metabolism Evaluating patients with advanced liver disease