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Test Catalog

CNSA - Overview: Central Nervous System Consultation, Autopsy, Varies

Evaluation of congenital neurological disease Evaluation of neurodegenerative disease Evaluation of cases with a complex neurological or neurosurgical history Evaluation of sudden unexplained death This test is not intended for...

PDSUX - Overview: Drug Screen, Prescription/Over the Counter, Chain of Custody, Random, Urine

Qualitative detection and identification of prescription or over-the-counter drugs frequently found in drug overdose or used with a suicidal intent Providing, when possible, the identification of all drugs in the specimen This test is...

COM - Overview: Complement, Total, Serum

Detection of individuals with an ongoing immune process First-tier screening test for congenital complement deficiencies

PIK3B - Overview: Cell-Free DNA PIK3CA Test, Blood

Identification of hormone receptor positive and human epidermal growth factor receptor 2 negative (HR+/HER2-) advanced breast cancer tumors that may be eligible for treatment with targeted kinase inhibitor therapy (eg, alpelisib).

C6FX - Overview: C6 Complement, Functional, Serum

Diagnosis of C6 deficiency Investigation of a patient with an undetectable total complement level

C5FX - Overview: C5 Complement, Functional, Serum

Diagnosis of C5 deficiency Investigation of a patient with an undetectable total complement level

CRT24 - Overview: Creatinine, 24 Hour, Urine

Urinary creatinine, in conjunction with serum creatinine, is used to calculate the creatinine clearance, a measure of renal function Normalizing urinary analytes to account for the variation in urinary concentration

GATOL - Overview: Galactitol, Quantitative, Urine

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

CLFIB - Overview: Fibrinogen, Clauss, Plasma

Detecting increased or decreased fibrinogen (factor 1) concentration of acquired or congenital origin Monitoring severity and treatment of disseminated intravascular coagulation and fibrinolysis

KINET - Overview: Ki-67(MIB-1), Gastrointestinal/Pancreatic Neuroendocrine Tumors, Quantitative Immunohistochemistry, Automated

Determining proliferation of tumor cells in paraffin-embedded tissue blocks from patients diagnosed with neuroendocrine tumors of the pancreas or gastrointestinal tract including metastases

K11CS - Overview: Kelch-Like Protein 11 Antibody, Cell Binding Assay, Serum

Evaluating patients with paraneoplastic or autoimmune encephalitis (brainstem encephalitis or limbic encephalitis or cerebellar ataxia) using serum specimens

PBCU - Overview: Lead/Creatinine Ratio, Urine

Detecting clinically significant lead exposure using random urine specimens This test is not a substitute for blood lead screening.

KI67P - Overview: Ki-67(MIB-1), Pulmonary, Quantitative Immunohistochemistry, Automated

Determining proliferation of tumor cells in paraffin-embedded tissue blocks from patients diagnosed with carcinoid or atypical carcinoid of the lung including metastases

MHPRP - Overview: Metamycoplasma hominis, Molecular Detection, PCR, Plasma

Rapid, sensitive, and specific identification of Metamycoplasma hominis from plasma This test is not intended for medicolegal use.

MUSK - Overview: Muscle-Specific Kinase (MuSK) Autoantibody, Serum

Diagnosis of autoimmune muscle-specific kinase (MuSK) myasthenia gravis Second-order test to aid in the diagnosis of autoimmune myasthenia gravis when first-line serologic tests are negative Establishing a quantitative baseline value...

MHBRP - Overview: Metamycoplasma hominis, Molecular Detection, PCR, Blood

Rapid, sensitive, and specific identification of Metamycoplasma hominis from whole blood This test is not intended for medicolegal use.

NAU - Overview: Sodium, 24 Hour, Urine

Assessing acid-base balance, water balance, water intoxication, and dehydration

TRPS - Overview: Troponin T, 5th Generation, Plasma

Aiding in the exclusion of the diagnosis of acute coronary syndrome in a single plasma specimen Aiding in the diagnosis of acute coronary syndrome Monitoring acute coronary syndromes and estimating prognosis Possible utility in...

STFR - Overview: Soluble Transferrin Receptor (sTfR), Serum

Evaluation of suspected iron deficiency in patients who may have inflammation, infection, or chronic disease and other conditions in which ferritin concentration does not correlate with iron status, including: -Cystic fibrosis patients who...

SPPCI - Overview: Stiff-Person Spectrum Disorders including Progressive Encephalomyelitis with Rigidity and Myoclonus, Interpretation, Spinal Fluid

Interpretation for the evaluation of stiff-person spectrum disorders, including the classical or focal forms, such as stiff-limb or stiff-trunk, and progressive encephalomyelitis with rigidity and myoclonus, using spinal fluid specimens

SPPSI - Overview: Stiff-Person Spectrum Disorders, including Progressive Encephalomyelitis with Rigidity and Myoclonus, Interpretation, Serum

Interpretation for the evaluation of stiff-person spectrum disorders including the classical or focal forms, such as stiff-limb or stiff-trunk, and progressive encephalomyelitis with rigidity and myoclonus, using serum specimens

VLTUX - Overview: Volatile Screen, Chain of Custody, Random, Urine

Detecting the presence of acetone, methanol, isopropanol, or ethanol in urine with subsequent quantitation Providing chain of custody for when the results of testing could be used in a court of law. Its purpose is to protect the rights of...

ZNUCR - Overview: Zinc/Creatinine Ratio, Random, Urine

Identifying the cause of abnormal serum zinc concentrations using a random urine specimen

ZONI - Overview: Zonisamide, Serum

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

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

AMPHU - Overview: Amphetamines Confirmation, Random, Urine

Confirming drug exposure involving amphetamines such as amphetamine and methamphetamine, phentermine, pseudoephedrine/ephedrine, methylenedioxyamphetamine (MDA), and methylenedioxymethamphetamine (MDMA)

B6PA - Overview: Pyridoxic Acid, Plasma

Determining the concentration of pyridoxic acid in the assessment of vitamin B6 status

BMFGP - Overview: Inherited Bone Marrow Failure Gene Panel, Varies

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of a hereditary bone marrow failure syndrome Establishing a diagnosis of a hereditary bone marrow failure syndrome associated with known...

COMID - Overview: Combined Humoral and Cell-Mediated Immunodeficiency Gene Panel, Varies

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of a hereditary combined humoral and cell-mediated immunodeficiency (CID) Establishing a diagnosis of a combined immunodeficiency...

DMC2 - Overview: Dementia, Autoimmune/Paraneoplastic Evaluation, Spinal Fluid

Investigating new onset dementia and cognitive impairment plus 1 or more of the following accompaniments using cerebrospinal fluid specimens: -Rapid onset and progression -Fluctuating course -Psychiatric accompaniments (psychosis,...

DMS2 - Overview: Dementia, Autoimmune/Paraneoplastic Evaluation, Serum

Investigating new onset dementia and cognitive impairment plus 1 or more of the following using serum specimens: -Rapid onset and progression -Fluctuating course -Psychiatric accompaniments (psychosis, hallucinations) -Movement disorder...

MDC2 - Overview: Movement Disorder, Autoimmune/Paraneoplastic Evaluation, Spinal Fluid

Evaluating patients with suspected paraneoplastic or other autoimmune movement disorders including patients with ataxia, brainstem encephalitis, chorea, dyskinesias, myoclonus, and parkinsonism using spinal fluid specimens

EPS2 - Overview: Epilepsy, Autoimmune/Paraneoplastic Evaluation, Serum

Investigating new onset cryptogenic epilepsy with incomplete seizure control and duration of less than 2 years, using serum specimens Investigating new onset cryptogenic epilepsy plus 1 or more of the following accompaniments: -Psychiatric...

AHLP - Overview: AudioloGene Hearing Loss Panel, Varies

Establishing a diagnosis of a syndromic or nonsyndromic hereditary hearing loss disorder Identifying variants within genes known to be associated with hereditary hearing loss, allowing for predictive testing of at-risk family members

NMITO - Overview: Nuclear Mitochondrial Gene Panel, Next-Generation Sequencing, Varies

Diagnosing the subset of mitochondrial disease that results from variants in the nuclear-encoded genes A second-tier test for patients in whom previous targeted gene variant analyses for specific mitochondrial disease-related genes were...

RP - Overview: Respiratory Panel, PCR, Nasopharyngeal

Rapid detection of respiratory infections caused by the following: -Adenovirus -Coronavirus serotypes HKU1, NL63, 229E, OC43 - SARS-CoV-2, the causative agent of COVID-19 -Human metapneumovirus -Human rhinovirus/enterovirus -Influenza A...

EPPAN - Overview: Comprehensive Epilepsy With or Without Encephalopathy Gene Panel, Varies

Establishing a diagnosis of an epilepsy or seizure disorder associated with known causal genes Identifying disease-causing variants within genes known to be associated with inherited epilepsy or seizure disorders, allowing for predictive...

PAVAL - Overview: Paraneoplastic, Autoantibody Evaluation, Serum

Serological evaluation of patients who present with a subacute neurological disorder of undetermined etiology, especially those with known risk factors for cancer Directing a focused search for cancer Investigating neurological symptoms...

ALDS - Overview: Aldosterone, Serum

Investigating primary aldosteronism (eg, adrenal adenoma/carcinoma and adrenal cortical hyperplasia) and secondary aldosteronism (renovascular disease, salt depletion, potassium loading, cardiac failure with ascites, pregnancy, Bartter...

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mdazl-rhode-island-certification.pdf

0 Q £ IS l -t1 .,. ... ';.� +"'" ¾liNT 0� State of Rhode Island DEPARTMENT OF HEALTH Center for Health Facilities Regulation This is to certify that MAYO CLINIC MOLECULAR...

newborn_screen_follow-up_for_x-linked_adrenoleukodystrophy.pdf

(MFMER). All rights reserved. 03/2023 Newborn screen result: Elevated lysophosphatidylcholines C24:0, C26:0 Order POX / Fatty Acid Profile, Peroxisomal (C22-C26), Serum Elevated very long chain fatty a....

galactosemia_testing_algorithm.pdf

07/2024 GALT <24.5 nmol/h/mg of hemoglobin GALT ≥24.5 nmol/h/mg of hemoglobin 2 variants identified 0–1 variants identified and discordant enzyme results 1 variant identif......

critical-values-semi-urgent-results-list.pdf

High Units Activated Partial Thromboplastin Time, Plasma Any – ≥ 150 sec Fibrinogen Any ≤ 60 – mg/dL 0 – 7 weeks ≤ 6.0 ≥ 24.0 g/dL > 7 weeks ≤ 6.0 ≥ 20.0 g/dL INR (International Normalizing Ratio......

vitamin_b12_deficiency_evaluation.pdf

© Mayo Foundation for Medical Education and Research (MFMER). All rights reserved. 03/2022 Vitamin B12 Deficiency Evaluation <150 ng/L>400 ng/L 150-400 ng/L ≤0.4 nmol/mL >0.4 nmol/mL INDETERMINATE ACASM / Pernicious Anemia Cascade,...