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MULT - Overview: Zygosity Testing (Multiple Births), Varies

Determining genetic risk for an individual whose twin or triplet is affected with a genetic disorder for which a specific genetic test is not available (or such testing is uninformative) Assessment of risks prenatally when one fetus of...

BWRS - Overview: Beckwith-Wiedemann Syndrome/Russell-Silver Syndrome, Molecular Analysis, Varies

Confirming a clinical diagnosis of Beckwith-Wiedemann syndrome (BWS) or Russell-Silver syndrome (RSS) Prenatal diagnosis if there is a high suspicion of BWS/RSS based on ultrasound findings or in families at risk for BWS/RSS This assay...

GBAW - Overview: Beta-Glucosidase, Leukocytes

Diagnosis of Gaucher disease This test is not intended for carrier detection.

GPSYW - Overview: Glucopsychosine, Blood

Second-tier test when newborn screening results with reduced beta-glucosidase (GBA) activity are identified Diagnosis and monitoring of patients with Gaucher disease using whole blood specimens Supporting the biochemical diagnosis of...

ATTF - Overview: Antithrombin Activity, Plasma

Diagnosis of antithrombin deficiency, acquired or congenital Monitoring treatment of antithrombin deficiency disorders, including infusion of antithrombin therapeutic concentrate

CRGSP - Overview: Cryoglobulin and Cryofibrinogen Panel, Serum and Plasma

Evaluating patients with vasculitis, glomerulonephritis, and lymphoproliferative diseases Evaluating patients with macroglobulinemia or myeloma in whom symptoms occur with cold exposure This test is not useful for general screening of a...

CRANR - Overview: Cortisol, Free, Random, Urine

Investigating suspected hypercortisolism when a 24-hour collection is prohibitive (ie, pediatric patients)

RPR18 - Overview: Respiratory Profile, Region 18, Alaska, Serum

Assessing sensitization to various inhalant allergens commonly found in Alaska Defining the allergen responsible for eliciting signs and symptoms Identifying allergens: -Responsible for allergic response and/or anaphylactic episode -To...

OPATX - Overview: Opiates Confirmation, Chain of Custody, Random, Urine

Detection and quantification of codeine, hydrocodone, oxycodone, morphine, hydromorphone, oxymorphone, noroxycodone, noroxymorphone, norhydrocodone, dihydrocodeine, and naloxone in urine Chain of custody is required whenever the results of...

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

REVE2 - Overview: Erythrocytosis Evaluation, Blood

Definitive, comprehensive, and economic evaluation of an individual with JAK2-negative erythrocytosis associated with lifelong sustained increased hemoglobin or hematocrit

6MAMX - Overview: 6-Monoacetylmorphine, Chain of Custody, Random, Urine

Determination of heroin use 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 demonstrating that, it is always...

HERGN - Overview: HER2, Gastric/Esophageal, Semi-Quantitative Immunohistochemistry, Manual, No Reflex

Determining overexpression of HER2 protein of gastric and esophageal adenocarcinoma in formalin-fixed, paraffin-embedded tissue sections (no reflex to FISH testing)

MTBS - Overview: Microsporidia Stain, Varies

Diagnosis of extra-intestinal microsporidiosis involving the lung, skin, and other organs, particularly in immunocompromised hosts Diagnosis of ocular microsporidiosis

CTP10 - Overview: Catecholamine Fractionation, Standing, Plasma, Free

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

PD2T - Overview: Pompe Disease Second-Tier Newborn Screening, Blood Spot

Second-tier testing of newborns with an abnormal primary screening result for Pompe disease (decreased acid alpha-glucosidase enzyme activity) Follow-up testing for evaluation of an abnormal newborn screening result for Pompe disease

TLPDF - Overview: T-Cell Lymphoma, Diagnostic FISH, Varies

Detecting, at diagnosis, common chromosome abnormalities associated with specific T-cell lymphoma subtypes using a laboratory-designated probe set algorithm

MPS2Z - Overview: Hunter Syndrome, Full Gene Analysis, Varies

Confirmation of a diagnosis of mucopolysaccharidosis type II (Hunter syndrome) Carrier testing when there is a family history of mucopolysaccharidosis type II (Hunter syndrome), but disease-causing variants have not been previously...

APCRR - Overview: Activated Protein C Resistance V, with Reflex to Factor V Leiden, Blood and Plasma

Evaluating patients with incident or recurrent venous thromboembolism (VTE) Evaluating individuals with a family history of VTE

STER - Overview: Sterols, Plasma

Investigation of possible desmosterolosis (desmosterol reductase deficiency), cerebrotendinous xanthomatosis, lathosterolosis, sitosterolemia, sterol C4 methyl oxidase deficiency, MEND (male EBP disorder with neurologic defects) syndrome,...

TGRP - Overview: Testosterone, Total and Free, Serum

Alternative, second-level test for suspected increases or decreases in physiologically active testosterone: -Assessment of androgen status in cases with suspected or known sex hormone-binding globulin-binding abnormalities -Assessment of...

OXYCU - Overview: Oxycodone with Metabolite Confirmation, Random, Urine

Detection and quantification of oxycodone, oxymorphone, noroxycodone, and noroxymorphone in urine

PMSBB - Overview: Postmortem Screening, Bile and Blood Spot

Postmortem evaluation of individuals at any age who died suddenly or unexpectedly; testing is particularly recommended under the following circumstances (risk factors): -Family history of sudden infant death syndrome or other sudden...

7AC4 - Overview: 7AC4, Bile Acid Synthesis, Serum

Screening for bile acid malabsorption in patients with irritable bowel syndrome with diarrhea

VWFMS - Overview: von Willebrand Factor Multimer Analysis, Plasma

Resolving discrepancies when results of complementary laboratory tests (eg, F8A / Coagulation Factor VIII Activity Assay, Plasma; VWACT / von Willebrand Factor Activity, Plasma; and VWAG / von Willebrand Factor Antigen, Plasma) are...

MNB - Overview: Manganese, Blood

Evaluation of central nervous system symptoms, similar to Parkinson disease, in manganese (Mn) miners and processors Characterization of liver cirrhosis Therapeutic monitoring in treatment of cirrhosis, parenteral nutrition-related Mn...

IN16Q - Overview: CBFB::MYH11 Inversion(16), Quantitative Detection and Minimal Disease Risk Monitoring, qRT-PCR, Varies

Detection of CBFB::MYH11 gene fusion in patients recently diagnosed with acute myeloid leukemia (AML) Minimal residual disease monitoring during the clinical and therapeutic course of patients with AML

C341Q - Overview: Complement C3 and C4 with Anti-C1q Antibodies, Serum

Evaluating patients with suspected anti-C1q vasculitis Predicting renal involvement in patients with systemic lupus erythematosus

AATTA - Overview: Antithrombin Summary Interpretation

Diagnosis of antithrombin deficiency, acquired or congenital Monitoring treatment of antithrombin deficiency disorders, including infusion of antithrombin therapeutic concentrate

CRCGP - Overview: Hereditary Gastrointestinal Cancer Panel, Varies

Evaluating patients with a personal or family history suggestive of a hereditary gastrointestinal cancer or hereditary polyposis syndrome Establishing a diagnosis of a hereditary gastrointestinal cancer syndrome or hereditary polyposis...

MMRV - Overview: Measles, Mumps, Rubella, and Varicella (MMRV) Immune Status Profile, Serum

Determining immune status of individuals to measles, mumps, rubella, and varicella-zoster viruses (VZV) Documentation of previous infection with measles, mumps, rubella, or VZV in an individual without a previous record of immunization to...

NTC3Z - Overview: NOTCH3 Gene, Full Gene Analysis, Varies

Establishing a molecular diagnosis in individuals with features of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and NOTCH3-related disorders Identifying disease-causing variants...

DHCRZ - Overview: Smith Lemli Opitz Syndrome, DHCR7 Gene, Full Gene Analysis, Varies

Follow up for abnormal biochemical results suggestive of Smith-Lemli-Opitz syndrome Establishing a molecular diagnosis for patients with Smith-Lemli-Opitz syndrome Identifying alterations within DHCR7 allowing for predictive testing of...

UBA1Q - Overview: UBA1 Mutation Quantitative Detection, VEXAS syndrome, Droplet Digital PCR, Varies

Identification of pathogenic variant(s) in the UBA1 gene in patients presenting with symptoms concerning for or consistent with VEXAS syndrome

RPR14 - Overview: Respiratory Profile, Region 14, Central California, Serum

Assessing sensitization to various inhalant allergens commonly found in Central California Defining the allergen responsible for eliciting signs and symptoms Identifying allergens: -Responsible for allergic response and/or anaphylactic...

RPR4 - Overview: Respiratory Profile, Region 4, Sub-tropic Florida (Florida S. of Orlando), Serum

Assessing sensitization to various inhalant allergens commonly found in sub-tropic Florida, which is south of Orlando Defining the allergen responsible for eliciting signs and symptoms Identifying allergens: -Responsible for allergic...

RPR11 - Overview: Respiratory Profile, Region 11, Rocky Mountain (AZ [Mt]; CO; ID [Mt]; NM, UT [Mt]; WY), Serum

Assessing sensitization to various inhalant allergens commonly found in the Rocky Mountain region including Arizona, Colorado, Idaho, New Mexico, Utah, and Wyoming Defining the allergen responsible for eliciting signs and symptoms...

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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.