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Test Catalog

HEXBZ - Overview: Sandhoff Disease, HEXB Gene, Full Gene Analysis, Varies

Follow up for abnormal biochemical results suggestive of Sandhoff disease Establishing a molecular diagnosis for patients with Sandhoff disease Identifying variants within genes known to be associated with Sandhoff disease, allowing for...

BTKSG - Overview: Bruton Tyrosine Kinase, BTK Full Gene Analysis, Varies

Confirming a diagnosis of X-linked agammaglobulinemia in patients with a history of recurrent sinopulmonary infections, profound hypogammaglobulinemia, and less than 1% peripheral B cells, with or without abnormal Bruton tyrosine kinase...

GNANT - Overview: Antithrombin Deficiency, SERPINC1 Gene, Next-Generation Sequencing, Varies

Evaluating antithrombin AT deficiency in patients with a personal or family history suggestive of this hereditary thrombophilia Confirming an AT deficiency diagnosis with the identification of a known or suspected disease-causing...

NHHA - Overview: Hereditary Hemolytic Anemia Gene Panel, Next-Generation Sequencing, Varies

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of hereditary hemolytic anemias, including red blood cell (RBC) membrane/hydration disorders, RBC enzymopathies, and congenital...

GNPRS - Overview: Protein S Deficiency, PROS1 Gene, Next-Generation Sequencing, Varies

Evaluating protein S deficiency in patients with a personal or family history suggestive of this hereditary thrombophilia Confirming a diagnosis of autosomal dominant protein S deficiency with the identification of a known or suspected...

GNPRC - Overview: Protein C Deficiency, PROC Gene, Next-Generation Sequencing, Varies

Evaluating protein C deficiency in patients with a personal or family history suggestive of this hereditary thrombophilia Confirming a diagnosis of autosomal dominant protein C deficiency with the identification of a known or suspected...

DHR - Overview: Dihydrorhodamine Flow Cytometric Test, Blood

Evaluation of chronic granulomatous disease (CGD), X-linked and autosomal recessive forms, Rac2 deficiency, complete myeloperoxidase deficiency Monitoring chimerism and nicotinamide adenine dinucleotide phosphate oxidase (NOX) function...

MCSRC - Overview: MayoComplete Comprehensive Sarcoma Panel, Next-Generation Sequencing, Tumor

Primarily for identifying mutations that help in the diagnosis of specific soft tissue and bone tumors (sarcoma) Secondarily for identifying mutations that have therapeutic or prognostic significance Assessing microsatellite instability...

SHPV - Overview: Human Papillomavirus (HPV) DNA Detection with Genotyping, High-Risk Types by PCR, SurePath, Varies

Detection of high-risk (HR) genotypes associated with the development of cervical cancer An aid in triaging women with abnormal Pap smear test results Individual genotyping of human papillomavirus (HPV)-16 and/or HPV-18, if present...

PUPYU - Overview: Purines and Pyrimidines Panel, Random, Urine

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

MPSER - Overview: Mucopolysaccharides Quantitative, Serum

Quantification of dermatan sulfate, heparan sulfate, and keratan sulfate in serum to support the biochemical diagnosis of mucopolysaccharidoses types I, II, III, IV, VI, or VII

TYRSC - Overview: Tyrosinemia Follow-Up Panel, Self-Collect, Blood Spot

Monitoring of individuals with tyrosinemia type I (hepatorenal tyrosinemia) using a patient-collected specimen

T4 - Overview: T4 (Thyroxine), Total Only, Serum

Monitoring treatment with synthetic hormones (synthetic T3 [triiodothyronine] will cause a low total T4 [thyroxine]) Monitoring treatment of hyperthyroidism with thiouracil and other anti-thyroid drugs Index of thyroid function when the...

DHVD - Overview: 1,25-Dihydroxyvitamin D, Serum

As a second-order test in the assessment of vitamin D status, especially in patients with renal disease Investigation of some patients with clinical evidence of vitamin D deficiency (eg, vitamin D-dependent rickets due to hereditary...

CHLE - Overview: Cholesteryl Esters, Serum

Establishing a diagnosis of lecithin-cholesterol acyltransferase deficiency Evaluating the extent of metabolic disturbance by bile stasis or liver disease

RCVBS - Overview: Recoverin-IgG Antibody, Immunoblot, Serum

Evaluating patients with suspected paraneoplastic retinopathy accompanying small cell carcinoma

URCU - Overview: Uric Acid, 24 Hour, Urine

Assessment and management of patients with kidney stones, particularly uric acid stones

HSTNI - Overview: Troponin I, High Sensitivity, Plasma

Excluding the diagnosis of acute coronary syndromes Explaining troponin T elevations related to skeletal myopathy and/or assay interferences

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.

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...

LBCS - Overview: Labile Bound Copper, Serum

May be useful in the evaluation of copper-related disorders, including Wilson disease

MSDBS - Overview: Multiple Sulfatase Deficiency, Blood Spot

Supporting the biochemical diagnosis of multiple sulfatase deficiency This test is not useful for carrier detection.

STSH - Overview: Thyroid-Stimulating Hormone-Sensitive (s-TSH), Serum

Screening for thyroid dysfunction and detecting mild (subclinical), as well as overt, primary hypo- or hyperthyroidism in ambulatory patients Monitoring patients on thyroid replacement therapy Confirmation of thyrotropin (TSH, formerly...

AFTDP - Overview: Inherited Frontotemporal Dementia and Amyotrophic Lateral Sclerosis Gene Panel, Varies

Establishing a molecular diagnosis for patients with frontotemporal dementia (FTD) and/or amyotrophic lateral sclerosis (ALS) Identifying variants within genes known to be associated with FTD and/or ALS, allowing for predictive testing of...

CTU - Overview: Creatinine, 24 Hour, Urine

Calculation of creatinine clearance, a measure of renal function, when used in conjunction with serum creatinine

MUC - Overview: Mucor, IgE, Serum

Establishing a diagnosis of an allergy to mucor Defining the allergen responsible for eliciting signs and symptoms Identifying allergens: -Responsible for allergic response and/or anaphylactic episode -To confirm sensitization prior to...

NITF - Overview: Nitrogen, Total, Feces

Determining nitrogen balance, when used in conjunction with 24-hour urine nitrogen measurement Assessing nutritional status (protein malnutrition) Evaluating protein catabolism

NITU - Overview: Nitrogen, Total, 24 Hour, Urine

Assessing nutritional status (protein malnutrition) Assessment of protein nutrition and nitrogen balance in hospitalized patients Evaluating protein catabolism Determining nitrogen balance, when used in conjunction with 24-hour fecal...

GATOL - Overview: Galactitol, Quantitative, Urine

Monitoring effectiveness of treatment in patients with galactosemia Establishing a baseline level prior to initiating treatment for galactosemia

T3FR - Overview: T3 (Triiodothyronine), Free, Serum

A second- or third-level test of thyroid function Confirmation of hyperthyroidism, supplementing the T4 (tetraiodothyronine), sensitive thyrotropin, and total T3 assays Evaluating clinically euthyroid patients who have an altered...

ZNU - Overview: Zinc, 24 Hour, Urine

Identifying the cause of abnormal serum zinc concentrations using 24-hour urine specimens

ZNCU - Overview: Zinc/Creatinine Ratio, Urine

Measurement of zinc concentration as a part of identifying the cause of abnormal serum zinc concentrations using a random urine specimen

PARDP - Overview: Inherited Parkinson Disease Gene Panel, Varies

Establishing a molecular diagnosis for patients with Parkinson disease Identifying variants within genes known to be associated with Parkinson disease, allowing for predictive testing of at-risk family members

APGH - Overview: Alpha-Subunit Pituitary Tumor Marker, Serum

Adjunct in the diagnosis of pituitary tumors As part of the follow-up of treated pituitary tumor patients Differential diagnosis of thyrotropin-secreting pituitary tumor versus thyroid hormone resistance Differential diagnosis of...

CHRHB - Overview: Chromosome Analysis, Hematologic Disorders, Blood

Assisting in the classification and follow-up of certain malignant hematological disorders when bone marrow is not available This test is not useful for congenital disorders.

PTH2 - Overview: Parathyroid Hormone, Serum

Diagnosis and differential diagnosis of hypercalcemia Diagnosis of primary, secondary, and tertiary hyperparathyroidism Diagnosis of hypoparathyroidism Monitoring kidney failure patients for possible renal osteodystrophy

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...

MPS3B - Overview: Mucopolysaccharidosis III, Three-Enzyme Panel, Blood Spot

Supporting the biochemical diagnosis of mucopolysaccharidoses types IIIA, IIIB, IIIC This test is not useful for carrier detection.

LMPP - Overview: Lipoprotein Metabolism Profile, Serum

Diagnosing dyslipoproteinemia Quantifying cholesterol and triglycerides in very-low-density lipoprotein, low-density lipoprotein (LDL), high-density lipoproteins (HDL), and chylomicrons Identifying lipoprotein-X Classifying...

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FDA Issues Final Rule to Regulate LDTs: Bill Morice, M.D., Ph.D. - Insights

by William Morice II, M.D., Ph.D., CEO and president of Mayo Clinic Laboratories. They discuss the final rule issued by the U.S. Food and Drug Administration (FDA) on April 29, 2024, to make explicit its...

Feb. 1986: Mayo Clinic's Year-Old Liver Transplant Program - Insights

In 1986, Mayo Clinic's year-old liver transplant program was growing to be one of the largest in the world. Take a step back to 1986 by reading this article from the February issue of Mayovox....

A New Year with Familiar Viruses: Bill Morice, M.D., Ph.D. - Insights

William Morice II, M.D., Ph.D., CEO and president of Mayo Clinic Laboratories, to welcome the new year and discuss the increase of respiratory viruses....

Final Rule on LDTs May Be Coming Soon: Bill Morice, M.D., Ph.D. - Insights

Mayo Clinic Laboratories. They discuss the Food and Drug Administration’s (FDA) progress on making a final rule around regulating laboratory-developed tests (LDTs)....

Robin Patel, M.D., Elected to 2-Year Term on ASM Board of Directors - Insights

Microbiology and Infectious Diseases Laboratories at Mayo Clinic, has been elected to serve a two-year term on the American Society for Microbiology Board of Directors....