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RPR5 - Overview: Respiratory Profile, Region 5, Ohio Valley (IN, KY, OH, TN, WV), Serum

Assessing sensitization to various inhalant allergens commonly found in the Ohio Valley region including Indiana, Kentucky, Ohio, Tennessee, and West Virginia Defining the allergen responsible for eliciting signs and symptoms...

HGEM - Overview: Hydroxyglutaric Acids, Glutaric Acid, Ethylmalonic Acid, and Methylsuccinic Acid, Blood Spot

Evaluation of patients with an abnormal newborn screen showing elevations of glutarylcarnitine (C5-DC) using dried blood spot specimens Evaluation of patients with abnormal newborn screens showing elevations of C4-acylcarnitine to aid in...

TFH - Overview: FH Mutation Analysis, Next-Generation Sequencing, Tumor

Identifying specific mutations within the FH gene to assist in tumor diagnosis/classification, including renal cell carcinoma, uterine/cutaneous leiomyoma, and pheochromocytoma/paraganglioma

AMA - Overview: Mitochondrial Antibodies (M2), Serum

Establishing the diagnosis of primary biliary cholangitis This test is not useful for indicating the stage or prognosis of the disease or for monitoring the course of the disease.

CSMOF - Overview: Controlled Substance Monitoring Panel, 11 Drug Classes, Screen Only, Immunoassay, Oral Fluid

Monitoring acute (ie, short-term) drug use in addiction treatment or pain management settings as part of a rotational drug testing strategy Presumptive screening for amphetamine, methamphetamine, opioids/opiates (targeting morphine,...

CTP0 - Overview: Catecholamine Fractionation, Supine, Plasma, Free

Diagnosis of pheochromocytoma and paraganglioma in specimens collected from individuals in a supine position, as an auxiliary test to fractionated plasma and urine metanephrine measurements Diagnosis and follow-up of patients with...

ALAGP - Overview: Alagille Syndrome Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of Alagille syndrome Establishing a diagnosis of Alagille syndrome

PKLRZ - Overview: PKLR Full Gene Analysis, Varies

Aiding in the diagnosis of pyruvate kinase (PK) deficiency Ascertaining a causative variant in the PKLR gene of patients with low or relatively low levels of erythrocytic PK enzymatic activity Ascertaining carrier status of family members...

KRABZ - Overview: Krabbe Disease, Full Gene Analysis and Large (30 kb) Deletion, Varies

Second-tier test for confirming a diagnosis of Krabbe disease Carrier testing for individuals with a family history of Krabbe disease in the absence of known sequence variants in the family

NGBCL - Overview: MayoComplete B-Cell Lymphoma, Next-Generation Sequencing, Varies

Aiding in establishing diagnosis, refining prognosis, and potentially identifying targeted therapies for the optimal management of patients with B-cell lymphomas

NGCLN - Overview: MayoComplete Chronic Lymphoid Neoplasms, Next-Generation Sequencing, Varies

Aiding in establishing diagnosis, refining prognosis, and potentially identifying targeted therapies for the optimal management of patients with chronic or low-grade B-cell lymphoid neoplasms

AGABS - Overview: Alpha-Galactosidase, Blood Spot

Diagnosis of Fabry disease in male patients using blood spot specimens Verifying abnormal serum alpha-galactosidase results in male patients with a clinical presentation suggestive of Fabry disease Follow-up to an abnormal newborn screen...

DHES1 - Overview: Dehydroepiandrosterone Sulfate, Serum

Diagnosis and differential diagnosis of hyperandrogenism (in conjunction with measurements of other sex steroids) An adjunct in the diagnosis of congenital adrenal hyperplasia Diagnosis and differential diagnosis of premature adrenarche

CMAMA - Overview: Comprehensive Metabolic Panel, Serum

Routine health monitoring Patient monitoring while hospitalized for information regarding metabolism, including the current kidney status, electrolyte and acid/base balance, and blood glucose

G6PDC - Overview: Glucose 6 Phosphate Dehydrogenase Enzyme Activity, Blood

Evaluation of individuals with episodic or chronic Coombs-negative nonspherocytic hemolytic anemia Rapid testing to assess glucose-6-phosphate dehydrogenase (G6PD) enzyme capacity prior to rasburicase or other therapies that may cause...

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...

BRGYP - Overview: Hereditary Breast/Gynecologic Cancer Panel, Varies

Evaluating patients with a personal or family history suggestive of a hereditary breast or gynecological cancer syndrome Establishing a diagnosis of a hereditary breast or gynecological cancer syndrome allowing for targeted cancer...

ANST - Overview: Androstenedione, Serum

Diagnosis and differential diagnosis of hyperandrogenism, in conjunction with measurements of other sex steroids Diagnosis of congenital adrenal hyperplasia (CAH), in conjunction with measurement of other androgenic precursors,...

MCP2Z - Overview: MECP2 Gene, Full Gene Analysis, Varies

Establishing a molecular diagnosis in individuals with features of Rett syndrome and MECP2-related disorders Identifying pathogenic variants within the MECP2 gene known to be associated with Rett syndrome and MECP2-related disorders,...

TYRGP - Overview: Tyrosine Disorders Gene Panel, Varies

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

CMAPC - Overview: Chromosomal Microarray, Autopsy, Products of Conception, or Stillbirth

Prenatal diagnosis of copy number changes (gains or losses) across the entire genome Diagnosing chromosomal causes for fetal death Determining recurrence risk of future pregnancy losses Determining the size, precise breakpoints, gene...

SMNDX - Overview: Spinal Muscular Atrophy Diagnostic Assay, Deletion/Duplication Analysis, Varies

First-tier newborn screening for spinal muscular atrophy (SMA) Prenatal testing for SMA Diagnostic testing to confirm a suspected diagnosis of SMA

IOD - Overview: Iodine, Serum

Determining iodine overload using serum specimens Monitoring iodine levels in individuals taking iodine-containing drugs

RPDE - Overview: Rapidly Progressive Dementia Evaluation, Spinal Fluid

Evaluation of individuals presenting with rapidly progressive dementia of uncertain disease etiology and a differential diagnosis of Creutzfeldt-Jakob disease and rapidly progressive Alzheimer disease

FXS - Overview: Fragile X Syndrome, Molecular Analysis, Varies

Confirming a diagnosis of fragile X syndrome, fragile X tremor/ataxia syndrome, or premature ovarian insufficiency caused by expansions in the FMR1 gene Determining carrier status for individuals with a family history of fragile X...

MSUDP - Overview: Maple Syrup Urine Disease Gene Panel, Varies

Follow up for abnormal biochemical results suggestive of maple syrup urine disease (MSUD) Establishing a molecular diagnosis for patients with MSUD Identifying variants within genes known to be associated with MSUD, allowing for...

MEV1 - Overview: Methemoglobinemia Evaluation, Blood

Diagnosis of methemoglobinemia and sulfhemoglobinemia and possible hereditary (congenital) causes Differentiation of methemoglobinemia and sulfhemoglobinemia from other causes of cyanosis (eg, congenital heart disease)

PCGP - Overview: Porphyria Comprehensive Gene Panel, Varies

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

CHLGP - Overview: Cholestasis Gene Panel, Varies

Establishing a molecular diagnosis for patients with monogenic cholestasis Identifying variants within genes known to be associated with primary, monogenic cholestasis, allowing for predictive testing of at-risk family members This panel...

HYPBG - Overview: Hypobetalipoproteinemia Gene Panel, Varies

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

PTNT - Overview: Prothrombin G20210A Mutation, Blood

Patients with clinically suspected thrombophilia Determination of the duration of anticoagulation therapy of venous thromboembolism patients Screening for women contemplating hormone therapy

SHRI - Overview: Shrimp, IgE, Serum

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

HEPTP - Overview: Heparin Anti-Xa, Plasma

Measuring heparin concentration: -In patients treated with low-molecular-weight heparin preparations -In the presence of prolonged baseline activated partial thromboplastin time (APTT) (eg, lupus anticoagulant, "contact factor" deficiency,...

FETH2 - Overview: Feather Panel # 2, Serum

Establishing a diagnosis of an allergy to chicken, duck, goose, and turkey Defining the allergen responsible for eliciting signs and symptoms Identifying allergens: -Responsible for allergic response and/or anaphylactic episode -To...

EPIP1 - Overview: Epithelia Panel # 1, Serum

Establishing a diagnosis of an allergy to cat, cow, dog, or horse Defining the allergen responsible for eliciting signs and symptoms Identifying allergens: -Responsible for allergic response and/or anaphylactic episode -To confirm...

PBU - Overview: Lead, 24 Hour, Urine

Detecting clinically significant lead exposure in 24-hour specimens This test is not a substitute for blood lead screening.

ALPI - Overview: Alkaline Phosphatase Isoenzymes, Serum

Aid in the diagnosis and treatment of liver, bone, intestinal, and parathyroid diseases Determining the tissue source of increased alkaline phosphatase (ALP) activity in serum Differentiating between liver and bone sources of elevated...

C9FX - Overview: C9 Complement, Functional, Serum

Diagnosis of C9 deficiency Investigation of a patient with a low total (hemolytic) complement level

MNS - Overview: Manganese, Serum

Monitoring manganese exposure using serum specimens Nutritional monitoring

SEAFP - Overview: Seafood Allergen Profile, Serum

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

CRU - Overview: Chromium, 24 Hour, Urine

Screening for occupational exposure to chromium Monitoring metallic prosthetic implant wear

DAGR - Overview: Dairy and Grain Allergen Profile, Serum

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

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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.