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Test Catalog

HAD - Overview: Huntington Disease, Molecular Analysis, Varies

Molecular confirmation of clinically suspected cases of Huntington disease (HD) Presymptomatic testing for individuals with a family history of HD and a documented expansion in the HTT gene

BMFGP - Overview: Inherited Bone Marrow Failure Gene Panel, Varies

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of a hereditary bone marrow failure syndrome Establishing a diagnosis of a hereditary bone marrow failure syndrome associated with known...

COMID - Overview: Combined Humoral and Cell-Mediated Immunodeficiency Gene Panel, Varies

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of a hereditary combined humoral and cell-mediated immunodeficiency (CID) Establishing a diagnosis of a combined immunodeficiency...

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...

WESR - Overview: Whole Exome Sequencing Reanalysis, Varies

Identifying a diagnosis or additional variants associated with the phenotype in patients who previously have had a negative or inconclusive whole exome sequencing test Reanalyzing whole exome sequencing data when a patient (proband)...

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...

HYPBG - Overview: Hypobetalipoproteinemia Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of familial hypobetalipoproteinemia

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...

BMIYC - Overview: Borrelia miyamotoi Detection PCR, Spinal Fluid

Aids in the diagnosis of Borrelia miyamotoi infection in conjunction with clinical findings This test is not useful for detecting the Borrelia species that cause Lyme disease.

RALB1 - Overview: Albumin, Random, Urine

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

AMPMX - Overview: Amphetamine-Type Stimulants Confirmation, Chain of Custody, Meconium

Detecting in utero drug exposure up to 5 months before birth Chain of custody is required whenever the results of testing could be used in a court of law. Its purpose is to protect the rights of the individual contributing the specimen by...

BIOTS - Overview: Biotinidase, Serum

Preferred test for the diagnosis of biotinidase deficiency Follow-up testing for certain organic acidurias

B2M - Overview: Beta-2-Microglobulin, Serum

Prognosis assessment of multiple myeloma Evaluation of renal tubular disorders

BIVAL - Overview: Bivalirudin, Ecarin, Plasma

Monitoring of bivalirudin therapy for patients with prolonged baseline activated partial thromboplastin time

ALBR - Overview: Albumin, Random, Urine

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

MMLNS - Overview: Antimicrobial Susceptibility, Nocardia species and other Aerobic Actinomycetes, Varies

Determining the resistance of species of Nocardia and other aerobic actinomycetes to antimicrobial agents. This test is not useful for determining resistance of aerobic actinomycetes species of the following genera: Actinoallomurus,...

APHTC - Overview: Amphiphysin Antibody Titer Assay, Spinal Fluid

Evaluating patients with recent onset of a subacute neurological disorder for which a paraneoplastic basis might be suspected, particularly if the patient has a previous history, risk factors, or family history of cancer, especially lung or...

BILIT - Overview: Bilirubin, Total, Serum

Assessing liver function Evaluating a wide range of diseases affecting the production, uptake, storage, metabolism, or excretion of bilirubin Monitoring the efficacy of neonatal phototherapy

C5DCU - Overview: C5-DC Acylcarnitine, Quantitative, Random, Urine

Evaluation of patients with an abnormal newborn screen showing elevations of glutarylcarnitine Diagnosis of glutaric aciduria type 1 deficiency

SALCT - Overview: Cortisol, Saliva

Screening for Cushing syndrome Diagnosis of Cushing syndrome in patients presenting with symptoms or signs suggestive of the disease

C4U - Overview: C4 Acylcarnitine, Quantitative, Random, Urine

Evaluation of patients with abnormal newborn screens showing elevations of iso-/butyrylcarnitine to aid in the differential diagnosis of short-chain acyl-CoA dehydrogenase and isobutyryl-CoA dehydrogenase deficiencies

CTSK - Overview: Cathepsin K Immunostain, Technical Component Only

Evaluation for perivascular epithelioid cell neoplasms (PEComas), alveolar soft part sarcoma, and translocation-associated renal cell carcinomas

COBRU - Overview: Cobalt/Creatinine Ratio, Random, Urine

Detecting cobalt exposure in a random urine collection Monitoring metallic prosthetic implant wear This test is not useful for assessment of vitamin B12 activity.

HD1 - Overview: House Dust Panel, Serum

Establishing a diagnosis of an allergy to cockroach, Dermatophagoides farinea, Dermatophagoides pteronyssinus, and house dust/H-S lab Defining the allergen responsible for eliciting signs and symptoms Identifying allergens: -Responsible...

IA2 - Overview: Islet Antigen 2 (IA-2) Antibody, Serum

Clinical distinction of type 1 from type 2 diabetes mellitus Identification of individuals at risk of type 1 diabetes (including high-risk relatives of patients with diabetes) Prediction of future need for insulin treatment in...

IL5P - Overview: Interleukin 5, Plasma

Evaluation of patients with disorders known to be associated with hypereosinophilia

CAURS - Overview: Candida auris Surveillance, Molecular Detection, PCR, Varies

Detecting Candida auris from surveillance swabs This test should not be used to determine cure or to monitor response to therapy.

CD34I - Overview: CD34 Immunostain, Technical Component Only

A marker of immaturity in the setting of acute myeloid leukemia or B-cell lymphoblastic leukemia Diagnosis of gastrointestinal stromal tumors, solitary fibrous tumors, and angiosarcomas

COU - Overview: Cobalt, 24 Hour, Urine

Detecting cobalt exposure Monitoring metallic prosthetic implant wear This test is not useful to assess vitamin B12 activity.

CD56 - Overview: CD56 Immunostain, Technical Component Only

Aiding in the identification of tumors with neuroendocrine differentiation Aiding in the identification of natural killer cell lineage in a subset of lymphomas

COXIS - Overview: Coccidioides Antibody Screen with Reflex, Serum

Detecting antibodies to Coccidioides immitis/posadasii This assay should not be used for monitoring response to therapy.

CARNU - Overview: Carnitine, Random, Urine

Evaluation of patients with a clinical suspicion of a wide range of conditions including organic acidemias and fatty acid oxidation disorders Monitoring carnitine treatment

CHLBF - Overview: Cholesterol, Body Fluid

Aiding in the diagnosis of a cholesterol effusion or cholesterol-rich pseudochylous effusion in body fluids Distinguishing between chylous and pseudochylous pleural effusions Distinguishing between malignant and nonmalignant ascites

COKEX - Overview: Cocaine and Metabolite Confirmation, Chain of Custody, Random, Urine

Detecting and confirming drug abuse involving cocaine Chain of custody is required whenever the results of testing could be used in a court of law. Its purpose is to protect the rights of the individual contributing the specimen by...

CYCL - Overview: Cyclospora Stain, Feces

Identifying Cyclospora cayetanensis as a cause of infectious gastroenteritis

CMVM - Overview: Cytomegalovirus (CMV) Antibodies, IgM, Serum

Aiding in the diagnosis of acute infection with cytomegalovirus This test should not be used for screening blood or plasma donors.

CRPCR - Overview: Carbapenem Resistance Genes, Molecular Detection, PCR, Rectal Swab

Detecting and differentiating the blaKPC, blaNDM, blaVIM, blaOXA-48, and blaIMP gene sequences associated with carbapenem intermediate or resistant results Aiding in infection control in the detection of gastrointestinal colonization of...

LGBBS - Overview: Globotriaosylsphingosine, Blood Spot

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

HCQ - Overview: Hydroxychloroquine, Serum

Monitoring serum hydroxychloroquine concentrations, assessing compliance, and adjusting dosage in patients

Site Search

newborn_screen_follow-up_for_glucose-6-phosphate_dehydrogenase__g-6-pd__deficiency.pdf

Foundation for Medical Education and Research (MFMER). All rights reserved. 03/2024 Decreased glucose-6-phosphate dehydrogenase (G6PD) Not G6PD deficiency. In infants with hyperbilirubinemia, consider...

mayocliniclabs.com/-/media/it-mmfiles/Special-Instructions/6/6/D/Multi-Factor-Authentication-User-Guide.pdf...

Multi-Factor Authentication for Mayo Clinic Laboratories Applications User’s Guide Page 2 6/27/2024 Multi-Factor Authentication User’s Guide TABLE OF CONTENTS Introduction ....................

glucose-6-phosphate-dehydrogenase-deficiency-diagnostic-algorithm.pdf

© Mayo Foundation for Medical Education and Research (MFMER). All rights reserved. Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency Diagnostic Algorithm * If patient status is post-allogeneic stem...

glucose-6-phosphate-dehydrogenase-genotyping-interpretive-algorithm.pdf

In the following situations, order G6PDZ / Glucose-6-Phosphate Dehydrogenase (G6PD) Full Gene Sequencing: ■ To determine carrier status (female patient) or affected status (male patient) ■ Previous...

Six ways innovative lupus tests are transforming patient and clinician experiences - Insights

The Lupus Foundation of America estimates that at least five million people worldwide have a form of lupus. Yet, the most widely used laboratory tests for patients with this complex condition were developed more than 60 years ago, and...