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Test Catalog

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...

MUPAN - Overview: Comprehensive Neuromuscular Gene Panel, Varies

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

CGPH - Overview: Custom Gene Panel, Hereditary, Next-Generation Sequencing, Varies

Customization of existing next-generation sequencing panels offered through Mayo Clinic Laboratories Detection single nucleotide and copy number variants in a custom gene panel Identification of a pathogenic variant may assist with...

LSD6W - Overview: Lysosomal Storage Disorders, Six-Enzyme Panel, Leukocytes

Diagnosis of the lysosomal storage disorders: Fabry (in male patients), Gaucher, Krabbe, mucopolysaccharidosis I (MPS I), acid sphingomyelinase deficiency (Niemann-Pick types A and B), and Pompe (glycogen storage disorder type II) This...

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...

DWPAN - Overview: Comprehensive Distal Weakness Gene Panel, Varies

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

PAC1 - Overview: Paraneoplastic, Autoantibody Evaluation, Spinal Fluid

Aiding in the diagnosis of paraneoplastic neurological autoimmune disorders related to carcinoma of lung, breast, ovary, thymoma, or Hodgkin lymphoma using spinal fluid specimens

ABTIR - Overview: Antibody Titer, Blood and Serum

Monitoring antibody levels during pregnancy to help assess the risk of hemolytic disease of the newborn This test is not useful for monitoring the efficacy of Rh-immune globulin administration.

ADNAS - Overview: Anti-DNase B Titer, Serum

Demonstration of acute or recent streptococcal infection using anti-DNase B titer

ASYNC - Overview: Alpha-Synuclein Protein Aggregates, Spinal Fluid

Detection of pathogenic alpha-synuclein (alpha-synuclein aggregates) in adult patients being assessed for clinically uncertain cognitive decline or clinically uncertain parkinsonian syndromes

RA1U - Overview: Alpha-1-Microglobulin, Random, Urine

Assessment of renal tubular injury or dysfunction using random urine specimens Screening for tubular abnormalities Detecting chronic asymptomatic renal tubular dysfunction (2)

AKC - Overview: Adenylate Kinase Enzyme Activity, Blood

Assessment of adenylate kinase activity as part of the evaluation of chronic nonspherocytic hemolytic anemia

ADMA - Overview: Asymmetric Dimethylarginine, Plasma

Assessing the likelihood of future coronary events in patients with coronary heart disease, type II diabetes mellitus, or kidney disease Prompting intervention and assessing improvements among subjects with elevated ADMA and...

AMTRP - Overview: Amitriptyline and Nortriptyline, Serum

Monitoring amitriptyline and nortriptyline serum concentrations during therapy Evaluating potential amitriptyline and nortriptyline toxicity May aid in evaluating patient compliance

CTU - Overview: Creatinine, 24 Hour, Urine

Calculation of creatinine clearance, a measure of renal function, when used in conjunction with serum creatinine

C3FX - Overview: C3 Complement, Functional, Serum

Diagnosis of C3 deficiency Investigation of a patient with undetectable total complement level

C7FX - Overview: C7 Complement, Functional, Serum

Diagnosis of C7 deficiency Investigation of a patient with an undetectable total complement level

HYPOG - Overview: Hypoglycemic Agent Screen, Serum

Evaluation of suspected insulinoma characterized by hypoglycemia and increased serum insulin concentration Detecting drugs that stimulate insulin secretion Drugs detected by this procedure are: -The first-generation sulfonylureas:...

IMIPR - Overview: Imipramine and Desipramine, Serum

Monitoring imipramine and desipramine concentrations during therapy Evaluating potential imipramine and desipramine toxicity May aid in evaluating patient compliance

IGG4I - Overview: IgG4 Immunostain, Technical Component Only

Identification of IgG4-positive plasma cells in the tissue of patients with systemic autoimmune or allergic manifestations

C3 - Overview: Complement C3, Serum

Assessing disease activity in systemic lupus erythematosus Investigating an undetectable total complement level

C4 - Overview: Complement C4, Serum

Investigating an undetectable total complement Confirming hereditary angioedema (with low C1 inhibitor) Assessing disease activity in systemic lupus erythematosus, proliferative glomerulonephritis, rheumatoid arthritis, and autoimmune...

CPAPS - Overview: Conventional Smear-Screen, Varies

Screening for cervical carcinoma and a number of infections of the female genital tract including human papillomavirus, herpes, Candida, and Trichomonas

CITRA - Overview: Citrate Excretion, Random, Urine

Diagnosing risk factors for patients with calcium kidney stones using random urine specimens Monitoring results of therapy in patients with calcium stones or renal tubular acidosis

CPAPD - Overview: Conventional Smear-Diagnostic, Varies

Screening for cervical carcinoma and a number of infections of the female genital tract including human papillomavirus, herpes, Candida, and Trichomonas

ULFAT - Overview: Cryptococcus Antigen Titer, Lateral Flow Assay, Urine

Aiding in the diagnosis of infection with Cryptococcus neoformans or Cryptococcus gattii This test should not be used as a test of cure.

GALCR - Overview: Galactocerebrosidase Reflex, Leukocytes

Diagnosis of Krabbe disease as a confirmatory reflex of the six-enzyme panel Follow-up testing for evaluation of an abnormal newborn screening result for Krabbe disease This test is not recommended for carrier detection because of the...

THEVI - Overview: Hemoglobinopathy Interpretation

Interpretation of results for the evaluation of thalassemias and hemoglobinopathies Evaluation of microcytosis Extensive and economical diagnosis and classification of hemoglobinopathies or thalassemia including complex...

NITF - Overview: Nitrogen, Total, Feces

Determining nitrogen balance, when used in conjunction with 24-hour urine nitrogen measurement Assessing nutritional status (protein malnutrition) Evaluating protein catabolism

MYCOG - Overview: Mycoplasma pneumoniae Antibodies, IgG, Serum

Screening for IgG antibodies in the indication of recent or past exposure to Mycoplasma pneumoniae

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

PTU - Overview: Protein, Total, 24 Hour, Urine

Evaluation of kidney disease using a 24-hour urine collection Screening for monoclonal gammopathy

PNPAB - Overview: Paraneoplastic Pemphigus Antibody, IgG, Serum

Diagnosis of paraneoplastic pemphigus/paraneoplastic autoimmune multiorgan syndrome in the setting of erosive or lichenoid mucocutaneous disease

CSPCF - Overview: Plasma Cell Proliferative Disorder, Pre-Analysis Cell Sorting, Bone Marrow

Aiding in the diagnosis of new cases of multiple myeloma or other plasma cell proliferative disorders Sorting plasma cells for fluorescence in situ hybridization analysis

RBR - Overview: Retinol-Binding Protein, Random, Urine

Assessing renal tubular injury or dysfunction using random urine collections Screening for other tubular abnormalities Detecting chronic asymptomatic renal tubular dysfunction.(2)

MSTC1 - Overview: Strict Criteria Sperm Morphology for Infertility Diagnosis and Treatment, Semen

Diagnosing male infertility Selecting the most cost-effective therapy for treating male-factor infertility Quantifying the number of germinal and WBCs per mL of semen

DSS - Overview: Drug Screen, Prescription/Over the Counter, Serum

Detection and identification of prescription or over the counter drugs frequently found in drug overdose or used with a suicidal intent Qualitatively identifying drugs present in the specimen; quantification of identified drugs, when...

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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,...