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Test Catalog

HDCH - Overview: Cholesterol, High-Density Lipoprotein (HDL), Serum

Measurement of serum high-density lipoprotein concentrations for managing atherosclerotic cardiovascular disease risk

SDLDL - Overview: Small Dense Low Density Lipoprotein Cholesterol, Serum

Aiding in risk management of lipoprotein disorders associated with cardiovascular disease when used in conjunction with other lipid measurements and clinical evaluation

PLAFL - Overview: Platelet Surface Glycoprotein by Flow Cytometry, Blood

Identification of markedly decreased CD41 (GPIIb) and CD61 (GPIIIa) expression levels, which are diagnostic for Glanzmann thrombasthenia Identification of markedly decreased CD42a (GPIX) and CD42b (GPIb-alpha) expression levels, which are...

XHIM - Overview: X-Linked Hyper IgM Syndrome, Blood

Screening for X-linked hyper-IgM (XL-HIGM) or CD40L deficiency, primarily in male patients younger than 10 years Ascertaining XL-HIGM carrier status in women of child-bearing age (younger than 45 years)

B12 - Overview: Vitamin B12 Assay, Serum

Investigation of macrocytic anemia Workup of deficiencies seen in megaloblastic anemias

HBCRQ - Overview: Hepatitis B Virus Core-Related Antigen, Quantitative, Serum

Monitoring of response to antiviral therapy in individuals with chronic hepatitis B who are negative for hepatitis B e antigen (HBeAg), positive for hepatitis B e antibody, and undetectable or low hepatitis B virus DNA levels (eg, <500...

LBCS - Overview: Labile Bound Copper, Serum

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

CTNBT - Overview: B-Catenin Mutation Analysis, Next-Generation Sequencing, Tumor

Distinguishing desmoid-type fibromatosis from other soft tissue tumors by assessing gene targets within the beta-catenin (CTNNB1) gene

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.

MSH6 - Overview: MSH6 Immunostain, Technical Component Only

Identifying patients at high risk for having hereditary nonpolyposis colorectal cancer, also known as Lynch syndrome, in an immunopanel including MSH6 and other mismatch repair markers Evaluation of tumor tissue to identify patients at...

MCADZ - Overview: Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency Full Gene Analysis, Varies

Confirmation of diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency (as a follow-up to biochemical analyses) Screening of at-risk carriers of MCAD deficiency when an affected relative has not had molecular testing Diagnosis...

2C9QT - Overview: Cytochrome P450 2C9 Genotype, Varies

Identifying individuals who may be at risk for altered metabolism of drugs that are modified by cytochrome P450 2C9

DPYDZ - Overview: Dihydropyrimidine Dehydrogenase, DPYD Full Gene Sequencing, Varies

Identifying individuals at increased risk of toxicity when considering 5-fluorouracil and capecitabine chemotherapy treatment Identifying common and rare variants associated with decreased or absent dihydropyrimidine dehydrogenase (DPD)...

TTFB - Overview: Testosterone, Total, Bioavailable, and Free, Serum

Second- or third-order test for evaluating testosterone status (eg, when abnormalities of sex hormone-binding globulin are present)

PRKSG - Overview: PRKAR1A Full Gene Sequencing with Deletion/Duplication, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of Carney Complex (CNC) or acrodysostosis-1 with hormone resistance Establishing a diagnosis of CNC or acrodysostosis-1 with hormone resistance

NSFIB - Overview: Nonalcoholic Steatohepatitis (NASH)-FibroTest, Serum and Plasma

Diagnosis and the follow-up of liver fibrosis, steatosis, and inflammation Estimating hepatic fibrosis Assessing inflammation for metabolic diseases Assessing severity of nonalcoholic steatohepatitis (NASH) in patients with...

ESTF - Overview: Estrogens, Estrone (E1) and Estradiol (E2), Fractionated, Serum

Simultaneous high-sensitivity determination of serum estrone and estradiol levels Situations requiring either higher sensitivity estradiol measurement, estrone measurement, or both, including -As part of the diagnosis and workup of...

SNS - Overview: Supplemental Newborn Screen, Blood Spot

Presymptomatic identification of disorders to allow for early initiation of treatment and consequent improvement in the long-term prognosis of affected patients The conditions identifiable by amino acid and acylcarnitine analysis are...

PINP - Overview: Procollagen I Intact N-Terminal, Serum

Aiding in monitoring antiresorptive and anabolic therapy in patients with osteoporosis An adjunct in the assessment of conditions associated with increased bone turnover, such as Paget disease This test should not be used as a screening...

CCPQ - Overview: P/Q-Type Calcium Channel Antibody, Serum

Confirming a diagnosis of Lambert-Eaton syndrome Implicating autoimmunity as a disease-causing mechanism in patients with complex neurologic presentations, particularly in those with a history of cancer Implicating autoimmunity as the...

TTIGS - Overview: Tetanus Toxoid IgG Antibody, Serum

Assessing antibody response to the tetanus toxoid vaccine, which should be performed at least 3 weeks after immunization Aiding in the evaluation of immunodeficiency This test should not be used to diagnose tetanus infection.

ZONI - Overview: Zonisamide, Serum

Monitoring zonisamide therapy; recommended for all patients to ensure appropriate dosing Assessing medication compliance

PFK1 - Overview: Phosphofructokinase Enzyme Activity, Blood

Evaluation of individuals with Coombs-negative nonspherocytic hemolytic anemia Evaluation of individuals with exercise intolerance or myopathy Genetic studies in families with phosphofructokinase deficiency

CD273 - Overview: CD273 (PD-L2) Immunostain, Technical Component Only

Differentiation of primary mediastinal large B-cell lymphoma from diffuse large B cell-lymphoma

RB1 - Overview: Retinoblastoma Protein (Rb) Immunostain, Tech Only

Aids in the identification of high-grade neuroendocrine carcinomas and small cell carcinomas

HALO - Overview: Haloperidol, Serum

Optimizing haloperidol dosage Monitoring patient compliance Assessing toxicity

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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....