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Test Catalog

HRTVC - Overview: Heartland Virus, RNA, Molecular Detection, PCR, Spinal Fluid

Aiding in the diagnosis of central nervous system infection caused by Heartland virus using spinal fluid specimens

RLTE4 - Overview: Leukotriene E4, Random, Urine

Aiding in the evaluation of patients at-risk for mast cell activation syndrome (eg, systemic mastocytosis, IgE-mediated allergies, or aspirin-exacerbated respiratory disease) using random urine collections

TLCU - Overview: Immunoglobulin Total Light Chains, Urine

Monitoring patients whose urine demonstrates large M-spikes Confirming the quantitation of specimens that show M-spikes by electrophoresis Detecting urine monoclonal proteins and identification of specimens that need urine protein...

BHSF - Overview: Beta-Human Chorionic Gonadotropin, Quantitative, Spinal Fluid

Aiding in the diagnosis of brain metastases of testicular cancer or extragonadal intracerebral germ cell tumors

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

B6PA - Overview: Pyridoxic Acid, Plasma

Determining the concentration of pyridoxic acid in the assessment of vitamin B6 status

INTAD - Overview: Adalimumab Panel, Interpretation

Interpretation of therapeutic drug monitoring of adalimumab concentration and antibody levels

TLTE4 - Overview: Leukotriene E4, 24 Hour, Urine

Aiding in the evaluation of patients at-risk for mast cell activation syndrome (eg, systemic mastocytosis, IgE-mediated allergies, or aspirin-exacerbated respiratory disease) using 24-hour urine collections

IPFGP - Overview: Idiopathic Pulmonary Fibrosis Gene Panel, Varies

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of familial idiopathic pulmonary fibrosis Establishing a diagnosis of familial idiopathic pulmonary fibrosis associated with known...

NF1Z - Overview: Neurofibromatosis Type 1, NF1, Full Gene Analysis, Varies

Evaluating patients with a personal or family history suggestive of neurofibromatosis type 1 (NF1) Establishing a diagnosis of a NF1 allowing for targeted cancer surveillance based on associated risks Identifying genetic variants...

GNPLT - Overview: Platelet Disorders, Comprehensive Gene Panel, Next-Generation Sequencing, Varies

Evaluating hereditary platelet disorders in patients with a personal or family history suggestive of a hereditary platelet disorder Diagnosing hereditary platelet disorders for patients in whom phenotypic testing is nondiagnostic, but...

PANGP - Overview: Expanded Pancreatitis Gene Panel, Varies

Confirmation of suspected clinical diagnosis of familial or hereditary pancreatitis in patients with chronic pancreatitis Identification of gene variants contributing to pancreatitis in an individual or family Identification of gene...

WESDX - Overview: Whole Exome Sequencing for Hereditary Disorders, Varies

Serving as a first-tier test to identify a molecular diagnosis in patients with suspected genetic disorders, which can allow for: -Better understanding of the natural history/prognosis -Targeted management (anticipatory guidance, management...

HLHGP - Overview: Primary Hemophagocytic Lymphohistiocytosis Gene Panel, Varies

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of familial hemophagocytic lymphohistiocytosis (F-HLH) Establishing a diagnosis of F-HLH, allowing for appropriate management and...

PLP - Overview: Pyridoxal 5-Phosphate, Plasma

Determining vitamin B6 status, including in persons who present with progressive nerve compression disorders, such as carpal tunnel and tarsal tunnel syndromes Determining the overall success of a vitamin B6 supplementation...

ALDNA - Overview: Aldosterone with Sodium, 24 Hour, Urine

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

HEXLA - Overview: Hexagonal Lupus Anticoagulant, Plasma

Confirming or excluding the presence of a lupus anticoagulant (LA), in conjunction with other appropriate coagulation tests Differentiating between deficiencies or inhibitors of specific coagulation factors and LA inhibitors Evaluating a...

PPFWE - Overview: Protoporphyrins, Fractionation, Washed Erythrocytes

Preferred test for analysis of erythrocyte protoporphyrin fractions Preferred test for evaluating patients with possible diagnoses of erythropoietic protoporphyria and X-linked dominant protoporphyria Establishing a biochemical...

PAC1 - Overview: Paraneoplastic, Autoantibody Evaluation, Spinal Fluid

Aiding in the diagnosis of paraneoplastic neurological autoimmune disorders related to carcinoma of lung, breast, ovary, thymoma, or Hodgkin lymphoma using spinal fluid specimens

B6PRO - Overview: Vitamin B6 Profile (Pyridoxal 5-Phosphate and Pyridoxic Acid), Plasma

Determining vitamin B6 status, including in persons who present with progressive nerve compression disorders, such as carpal tunnel and tarsal tunnel syndromes Determining the overall success of a vitamin B6 supplementation program...

PF199 - Overview: Carbohydrate Antigen 19-9 (CA 19-9), Pleural Fluid

An adjuvant to cytology and imaging studies to differentiate between nonmalignant and malignant causes of pleural effusions

PHCGD - Overview: Phagocytic Disorders and Chronic Granulomatous Disease Gene Panel, Varies

Providing a comprehensive genetic evaluation for patients with a personal or family history of chronic granulomatous disease, Papillon-Lefevre syndrome, specific granule deficiency, leukocyte adhesion deficiency, or other phagocytic...

AECDP - Overview: Angioedema and Complement Disorders Gene Panel, Varies

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of an inherited complement disorder, including complement deficiency Providing a comprehensive genetic evaluation for patients with a...

NSRGG - Overview: Noonan Syndrome and Related Conditions Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of Noonan syndrome, Noonan syndrome with multiple lentigines, Noonan syndrome with loose anagen hair, cardiofaciocutaneous syndrome, Costello syndrome,...

CEASF - Overview: Carcinoembryonic Antigen (CEA), Spinal Fluid

Detecting meningeal carcinomatosis and intradural or extradural infiltration Differentiating brain parenchymal metastasis from adenocarcinoma or squamous-cell carcinoma

RKUR - Overview: Potassium, Random, Urine

Determining the cause for hyper- or hypokalemia using a random urine specimen

ROC - Overview: Rubeola (Measles) Antibodies, IgG and IgM, Spinal Fluid

Diagnosing central nervous system rubeola (measles) virus infection and/or subacute sclerosing panencephalitis

RNAUR - Overview: Sodium, Random, Urine

Assessing acid-base balance, water balance, water intoxication, and dehydration

BGA - Overview: Beta-Galactosidase, Leukocytes

Aiding in the diagnosis of GM1 gangliosidosis, Morquio B disease, and galactosialidosis This test is not suitable for carrier detection.

BNP - Overview: B-Type Natriuretic Peptide, Plasma

Aiding in the diagnosis of congestive heart failure (CHF) The role of B-type natriuretic peptide in monitoring CHF therapy is under investigation.

PUPYP - Overview: Purines and Pyrimidines Panel, Plasma

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 Assessing...

TMSI - Overview: Microsatellite Instability, Tumor

Evaluation of tumor tissue to identify patients at high risk for having Lynch syndrome, also known as hereditary nonpolyposis colorectal cancer Evaluation of tumor tissue for clinical decision-making purposes given the prognostic and...

EPOR - Overview: Erythropoietin Receptor (EPOR) Gene, Exon 8 Sequencing, Whole Blood

Assessing EPOR in the evaluation of an individual with JAK2-negative erythrocytosis associated with lifelong sustained increased red blood cell (RBC) mass, elevated RBC count, hemoglobin, or hematocrit

THEVI - Overview: Hemoglobinopathy Interpretation

Interpretation of results for the evaluation of thalassemias and hemoglobinopathies Evaluation of microcytosis Extensive and economical diagnosis and classification of hemoglobinopathies or thalassemia including complex...

HIAAP - Overview: 5-Hydroxyindoleacetic Acid, Plasma

Biochemical diagnosis and monitoring of intestinal carcinoid syndrome using a plasma specimen

WNVCI - Overview: West Nile CSF Interpretation

Interpretation of testing for a laboratory diagnosis of infection with West Nile virus using spinal fluid specimens Aids in diagnosis of central nervous system infection with West Nile virus

ARSBB - Overview: Arylsulfatase B, Blood Spot

Supporting the biochemical diagnosis of mucopolysaccharidosis type VI (MPS VI, Maroteaux-Lamy syndrome) This test is not useful for carrier detection for MPS VI

AUTOG - Overview: Autoinflammatory Disorders Gene Panel, Varies

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of an inherited autoinflammatory disorder Establishing a diagnosis of a monogenic autoinflammatory disorder, allowing for appropriate...

WGSDX - Overview: Whole Genome Sequencing for Hereditary Disorders, Varies

Serving as a first-tier test to identify a molecular diagnosis in patients with suspected genetic disorders, which can allow for: -Better understanding of the natural history/prognosis -Targeted management (anticipatory guidance, management...

WESMT - Overview: Whole Exome and Mitochondrial Genome Sequencing, Varies

Serving as a first-tier test to identify a molecular and/or mitochondrial diagnosis in patients with suspected genetic disorders, which can allow for: -Better understanding of the natural history/prognosis -Targeted management (anticipatory...

EOIBD - Overview: Early Onset Monogenic Inflammatory Bowel Disease (IBD) Gene Panel, Varies

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of an inherited inflammatory bowel disorder Establishing a diagnosis of a monogenic early onset inflammatory bowel disease, allowing...

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sequential-maternal-serum-screening-testing-algorithm.pdf

All rights reserved. Sequential Maternal Serum Screening Testing Algorithm Diagnostic testing should be offered Screen-positive: results reported Screen-negative: results reported No f......

newborn-screen-follow-up-elevated-c5-oh.pdf

Foundation for Medical Education and Research (MFMER). All rights reserved. Newborn Screen Follow-up for Elevated C5-OH Newborn screen result: Elevated 3-hydroxyisovaleryl- /2-methyl-3-hydroxybutyryl-carnitine...

newborn-screen-follow-up-elevated-c4-oh-acylcarnitine.pdf

rights reserved. 09/2023 Newborn screen result: Elevated C4-OH acylcarnitine Perform: Plasma ammonia, blood gas, glucose, electrolytes Order: ■ OAU / Organic Acids Screen, Random, Urine ■ ......

newborn-screen-elevated-c0-c16-c18.pdf

Mayo Foundation for Medical Education and Research (MFMER). All rights reserved. 08/20/23 Newborn screen results: ■ Elevated or normal free carnitine (C0) ■ Elevated C0/C16+C18 ratio Perform: Plasma ammonia...

newborn-screen-decreased-free-carnitineco.pdf

Mayo Foundation for Medical Education and Research (MFMER). All rights reserved. 07/2025 Newborn screen result: ■ Decreased free carnitine (C0) Perform: Plasma ammonia, blood gas, glucose, electrolytes...