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Test Catalog

GDF15 - Overview: Growth Differentiation Factor 15, Plasma

A circulating biomarker in myopathy-related mitochondrial disease as well as other conditions Investigation of patients suspected of having a mitochondrial myopathy This assay is not suitable for carrier detection.

MECPI - Overview: Methicillin Resistance Gene, Molecular Detection, PCR, Varies

Detecting mecA in staphylococcal bacterial isolates Evaluating treatment options when oxacillin or cefoxitin breakpoints are unavailable (eg, certain Staphylococcus species other than Staphylococcus aureus) Predicting antimicrobial...

MMGEN - Overview: Mycoplasma genitalium, Transcription-Mediated Amplification, Post-Prostatic Massage Fluid/Urine or Peritoneal Fluids

Detecting Mycoplasma genitalium in cases of suspected infection in peritoneal fluid or prostatic secretion (VBIII) fluid/urine This test is not intended for use in medico-legal applications.

LAGU - Overview: Legionella Antigen, Random, Urine

An adjunct to culture for the detection of past or current Legionnaires disease (Legionella pneumophila serogroup 1)

SUAC - Overview: Succinylacetone, Blood Spot

Second-tier newborn screen for tyrosinemia type 1 (HT-1) when primary screen showed nonspecific elevations of tyrosine Diagnosing HT-1 when used in conjunction with testing for urine organic acids, liver function, alpha-fetoprotein, and...

VZIKS - Overview: Zika Virus, PCR, Molecular Detection, Serum

Qualitative detection of Zika virus RNA in serum from individuals meeting the Centers of Disease Control and Prevention Zika virus clinical or epidemiologic criteria

TDP - Overview: Thiamine (Vitamin B1), Whole Blood

Assessment of thiamine deficiency Measuring thiamine levels in patients with behavioral changes, eye signs, gait disturbances, delirium, and encephalopathy; or in patients with questionable nutritional status, especially those who appear...

OSCAL - Overview: Osteocalcin, Serum

Monitoring and assessing effectiveness of antiresorptive therapy in patients treated for osteopenia, osteoporosis, Paget disease, or other disorders in which osteocalcin levels are elevated As an adjunct in the diagnosis of medical...

TSPU - Overview: Targeted Stimulant Screen, Random, Urine

Determining compliance or identifying illicit stimulant drug use This test is not intended for employment-related testing.

LYME - Overview: Lyme Disease Serology, Serum

Diagnosing Lyme disease This test should not be used as a screening procedure for the general population. This test should not be used for treatment monitoring.

GIP - Overview: Gastrointestinal Pathogen Panel, PCR, Feces

Rapid detection of gastrointestinal infections caused by: -Campylobacter species (Campylobacter jejuni/Campylobacter coli/Campylobacter upsaliensis) -Clostridioides difficile toxin A/B -Plesiomonas shigelloides -Salmonella species -Vibrio...

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...

GNANT - Overview: Antithrombin Deficiency, SERPINC1 Gene, Next-Generation Sequencing, Varies

Evaluating antithrombin AT deficiency in patients with a personal or family history suggestive of this hereditary thrombophilia Confirming an AT deficiency diagnosis with the identification of a known or suspected disease-causing...

ATAXP - Overview: Inherited Ataxia Gene Panel, Varies

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

CHDGG - Overview: Congenital Heart Disease Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history of congenital heart disease Establishing a diagnosis of a genetic condition associated with congenital heart disease

NHHA - Overview: Hereditary Hemolytic Anemia Gene Panel, Next-Generation Sequencing, Varies

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of hereditary hemolytic anemias, including red blood cell (RBC) membrane/hydration disorders, RBC enzymopathies, and congenital...

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...

UGTFZ - Overview: UDP-Glucuronosyltransferase 1A1 (UGT1A1), Full Gene Sequencing, Varies

Establishing a diagnosis of Crigler-Najjar syndrome type I or type II and the trait of Gilbert syndrome Establishing carrier status for Crigler-Najjar syndrome type I or type II Identifying individuals who are at risk of...

STPCO - Overview: ThinPrep with Human Papillomavirus (HPV) Co-Test-Screen, Varies

Screening for cervical carcinoma or intraepithelial lesions and the presence or absence of high-risk human papillomavirus (HR-HPV) when screening women over the age of 30 for possible cervical neoplasia Detection of high-risk HPV genotypes...

CKDGP - Overview: Cystic Kidney Disease Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history of cystic kidney disease Establishing a diagnosis of hereditary cystic kidney disease

GSDGP - Overview: Glycogen Storage Disease Gene Panel, Varies

Follow up of abnormal biochemical results consistent with glycogen storage disease (GSD) Establishing a molecular diagnosis for patients with GSD Identifying variants within genes known to be associated with GSD allowing for predictive...

HIESG - Overview: Hyper-IgE Syndrome Gene Panel, Varies

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of hyper-IgE syndrome (HIES) Establishing a diagnosis of HIES, allowing for appropriate management and surveillance for disease features...

LIPOG - Overview: Lipodystrophy Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of a hereditary lipodystrophy Establishing a diagnosis of a hereditary lipodystrophy

APTSC - Overview: Activated Partial Thromboplastin Time (APTT), Plasma

Screening for certain coagulation factor deficiencies and abnormalities (eg, factor VIII, IX, XI, or XII) Detecting coagulation inhibitors such as lupus anticoagulant, antiphospholipid antibodies, specific factor inhibitors, and...

BABPB - Overview: Babesia species, Molecular Detection, PCR, Blood

Initial screening or confirmatory testing for suspected babesiosis during the acute febrile stage of infection in patients from endemic areas, especially when Giemsa-stained peripheral blood smears do not reveal any organisms, or the...

ATTI - Overview: Antithrombin Antigen, Plasma

Assessing abnormal results of the antithrombin activity assay (ATTF / Antithrombin Activity, Plasma), the recommended primary (screening) antithrombin assay Diagnosing antithrombin deficiency, acquired or congenital, in conjunction with...

AIHL - Overview: Aminoglycoside-Induced Hearing Loss, Targeted Variant Testing, Droplet Digital PCR, Varies

Identification of individuals who may be at risk for aminoglycoside-induced hearing loss (AIHL) Establishing a diagnosis of late-onset sensorineural hearing loss associated with aminoglycoside exposure Identifying mitochondrial variants...

ADVQU - Overview: Adenovirus DNA Detection and Quantification, Plasma

Aiding in the diagnosis of disseminated adenovirus infections in at-risk individuals Measuring adenoviral load in plasma to monitor disease progression and antiviral response in individuals with disseminated infection

APCRV - Overview: Activated Protein C Resistance V (APCRV), Plasma

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

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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,...