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CASF - Overview: IgG/Albumin Ratio, Spinal Fluid

Assessment of cerebrospinal fluid (CSF) IgG/albumin ratio in the absence of a paired CSF and serum specimen

MNU - Overview: Manganese, 24 Hour, Urine

Monitoring manganese exposure using 24 hour urine collections Nutritional monitoring

C1ES - Overview: C1 Esterase Inhibitor Antigen, Serum

Diagnosis of hereditary angioedema Monitoring levels of C1 esterase inhibitor in response to therapy

FRAG - Overview: Osmotic Fragility, Erythrocytes

Evaluating suspected hereditary spherocytosis-associated hemolytic anemia Confirming or detecting mild spherocytosis

RPB - Overview: Respiratory Panel, PCR, Varies

Rapid detection of respiratory infections caused by the following: -Adenovirus -Coronavirus serotypes HKU1, NL63, 229E, OC43 -SARS-CoV-2 -Human metapneumovirus -Human rhinovirus/enterovirus -Influenza A subtypes H1, H1-2009, H3, influenza A...

UCDP - Overview: Urea Cycle Disorders Gene Panel, Varies

Follow up for abnormal biochemical results suggestive of a urea cycle disorder (UCD) Establishing a molecular diagnosis for patients with a UCD Identifying variants within genes known to be associated with UCD, allowing for predictive...

GNADM - Overview: Hereditary Thrombotic Thrombocytopenic Purpura, ADAMTS13 Gene, Next-Generation Sequencing, Varies

Evaluating hereditary thrombotic thrombocytopenic purpura (TTP) in patients with a personal or family history suggestive of thrombotic microangiopathy Confirming a hereditary TTP diagnosis with the identification of known or suspected...

GALZ - Overview: Galactosemia, GALT Gene, Full Gene Analysis, Varies

Identifying variants in individuals who test negative for the common variants and who have a biochemical diagnosis of galactosemia or galactose-1-phosphate uridyltransferase activity levels indicative of carrier status

HFAOP - Overview: Fatty Acid Oxidation Gene Panel, Varies

Follow up for abnormal biochemical results suggestive of a fatty acid oxidation disorder Establishing a molecular diagnosis for patients with a fatty acid oxidation disorder Identifying variants within genes known to be associated with a...

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...

2D6Q - Overview: Cytochrome P450 2D6 Comprehensive Cascade, Varies

Providing information relevant to tamoxifen, codeine, and tramadol, as well as other medications metabolized by cytochrome P450 2D6 Determining the exact genotype when other methods fail to generate this information or if...

DYS2 - Overview: Dysautonomia, Autoimmune/Paraneoplastic Evaluation, Serum

Investigating idiopathic dysautonomic symptoms Directing a focused search for cancer in patients with idiopathic dysautonomia Investigating autonomic symptoms that appear in the course or wake of cancer therapy and are not explainable by...

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...

CDG - Overview: Carbohydrate Deficient Transferrin for Congenital Disorders of Glycosylation, Serum

Screening for congenital disorders of glycosylation This test is not useful for screening patients for chronic alcohol abuse.

HMEP - Overview: Hemiplegic Migraine With or Without Epilepsy Gene Panel, Varies

Establishing a molecular diagnosis in individuals with hemiplegic migraine Identifying disease-causing variants within genes known to be associated with hemiplegic migraine, allowing for predictive testing of at-risk family members

CDKZ - Overview: CDKN1C Gene, Full Gene Analysis, Varies

Confirming a clinical diagnosis of Beckwith-Wiedemann syndrome following a normal result on methylation analysis Confirming a clinical diagnosis of IMAGe (intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia...

SVISC - Overview: Viscosity, Serum

Detection of increased viscosity Monitoring patients with hyperviscosity syndrome This test is not useful for patients with small concentrations of monoclonal proteins.

THEV0 - Overview: Thalassemia Summary Interpretation, Blood

Incorporating and summarizing subsequent molecular results into an overall interpretation for the THEV1 / Thalassemia and Hemoglobinopathy Evaluation, Blood and Serum

MPNML - Overview: MPL Exon 10 Sequencing, Reflex, Varies

Aiding in the distinction between a reactive cytosis and a myeloproliferative neoplasm when JAK2 V617F testing result is negative Evaluates for variants in MPL in an algorithmic process for MPNCM / Myeloproliferative Neoplasm, CALR with...

REVE0 - Overview: Erythrocytosis Summary Interpretation

Incorporating and summarizing subsequent results into an overall interpretation for the REVE2 / Erythrocytosis Evaluation, Blood

AHUSD - Overview: Atypical Hemolytic Uremic Syndrome Complement Panel, Serum and Plasma

Detecting deficiencies in the alternative pathway that can cause atypical-hemolytic uremic syndrome, dense deposit disease, and C3 glomerulonephritis A second-tier test that aids in the differential diagnosis of thrombotic...

MCBPP - Overview: MayoComplete Bladder and Prostate Cancer Panel, Next-Generation Sequencing, Tumor

Primarily for determining if patients will respond to targeted therapy Assessment of microsatellite instability for immunotherapy decisions

PQNU - Overview: Porphyrins, Quantitative, 24 Hour, Urine

Preferred screening test for congenital erythropoietic porphyria and porphyria cutanea tarda and during symptomatic periods for acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria when specimen transport will be...

EEEV1 - Overview: Red Blood Cell (RBC) Enzyme Evaluation, Blood

Identifying defects of red blood cell enzyme metabolism Evaluating patients with Coombs-negative hemolytic anemia

HCVQG - Overview: Hepatitis C Virus (HCV) RNA Quantification with Reflex to HCV Genotype, Serum

Detection of acute hepatitis C virus (HCV) infection before the appearance of HCV antibodies in serum (ie, <2 months from exposure) Detection and confirmation of chronic HCV infection and determining HCV genotype (1 to 5) to guide...

LRCCZ - Overview: Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome, FH, Full Gene Analysis, Varies

Evaluating patients with a personal or family history suggestive of hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome or fumarate hydratase deficiency (FHD) Establishing a diagnosis of HLRCC or FHD allowing for targeted...

MCGYN - Overview: MayoComplete Gynecological Cancer Panel, Next-Generation Sequencing, Tumor

Predicting patients' prognosis and response to targeted therapy Assessment of microsatellite instability for immunotherapy decisions

MCKCP - Overview: MayoComplete Kidney Cancer Panel, Next-Generation Sequencing, Tumor

Identifying specific mutations to assist in tumor diagnosis/classification Assisting in the clinical management of patients with renal cell carcinoma Assessment of microsatellite instability for immunotherapy decisions

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...

SMCP - Overview: Inherited Skeletal Muscle Channelopathy Gene Panel, Varies

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

CSFP - Overview: Carrier Screen, Focused Panel, Varies

Expanded carrier screening for reproductive risk assessment purposes This test is not useful for clinical diagnosis of an affected individual.

PCMSP - Overview: Postmortem Inherited Congenital Myasthenia Syndrome Gene Panel, Tissue

Identifying variants within genes known to be associated with congenital myasthenic syndrome, allowing for predictive testing of at-risk family members Providing a comprehensive postmortem genetic evaluation in the setting of a congenital...

SCAP - Overview: Spinocerebellar Ataxia Repeat Expansion Panel, Varies

Molecular confirmation of clinically suspected spinocerebellar ataxia when a specific subtype isn't suspected

RAPAN - Overview: Rheumatoid Arthritis Panel, Serum

Evaluating patients suspected of having rheumatoid arthritis (RA) Differentiating RA from other inflammatory arthritis or connective tissue diseases Diagnosis and stratification of rheumatoid arthritis

LNBAI - Overview: Lyme Central Nervous System Infection IgG, Antibody Index, Spinal Fluid

Providing antibody index information to aid in the diagnosis of neuroinvasive Lyme disease or neuroborreliosis due to Borrelia species associated with Lyme disease (eg, Borrelia burgdorferi, Borrelia garinii, Borrelia afzelli)

PGRBC - Overview: Plasmalogens, Blood

Diagnosing patients with possible peroxisomal disorders, such as peroxisomal biogenesis disorders (Zellweger syndrome spectrum) and rhizomelic chondrodysplasia punctata (RCDP), including fatty acyl-CoA reductase 1 (FAR1) deficiency...

2C19R - Overview: Cytochrome P450 2C19 Genotype, Varies

Identifying patients who may be at risk for altered metabolism of drugs that are modified by cytochrome P450 2C19 Predicting anticoagulation response to clopidogrel

COMTQ - Overview: Catechol-O-Methyltransferase (COMT) Genotype, Varies

Prediction of response to nicotine replacement therapy for smoking cessation Investigation of inhibitor dosing for decreasing levodopa metabolism Research use for assessing estrogen metabolism

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Week in Review: February 3 - Insights

Include: President Biden to End Covid-19 Emergencies On May 11, and Children’s Minnesota Received $3 Million Grant To Address Pediatric Health Disparities....

Detection of (1→3)-𝝱-D-glucan as a Marker of Invasive Fungal Disease - Insights

In this month’s “Hot Topic,” Elitza Theel, Ph.D., will discuss the detection of (1→3)-β-D-glucan (BDG) in serum as a biomarker for the presence of invasive fungal infections....

Phlebotomy Modules: Module 3 | Insights

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Week in Review: March 3 - Insights

Today's Highlights Include: COVID-19 deaths remain low compared to previous winters, FDA authorizing first at-home combo flu/Covid test, and Rochester public schools evaluating mental health needs and services throughout the district.