HTG2 - Overview: Thyroglobulin, Tumor Marker, Serum

Follow-up of patients with differentiated thyroid cancers after thyroidectomy and radioactive iodine ablation

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

MYODT - Overview: MYOD1 Mutation Analysis, Next-Generation Sequencing, Tumor

Identifying specific mutations within the MYOD1 gene to assist in tumor diagnosis/classification Assisting in the clinical management of patients with spindle cell and sclerosing rhabdomyosarcoma

MPS1R - Overview: Endogenous Mucopolysaccharidosis Type I (IDUA [Alpha-L-Iduronidase]) Biomarker Reflex, Blood Spot

Second-tier testing of newborns with an abnormal primary screening result for mucopolysaccharidosis type I (MPS I, decreased alpha-L-iduronidase activity) where quantitation of the glycosaminoglycans dermatan and heparan sulfate is desired...

MCGST - Overview: MayoComplete Gastrointestinal Stromal Tumor (GIST) Panel, Next-Generation Sequencing, Tumor

Establishing diagnosis and identifying targeted therapies for patients with gastrointestinal stromal tumors Assessing microsatellite instability

SDHMP - Overview: SDH Genes Mutation Analysis, Next-Generation Sequencing, Tumor

Identifying specific mutations within the SDHA, SDHB, SDHC, and SDHD genes to assist in tumor diagnosis/classification, including pheochromocytoma/paraganglioma, renal cell carcinoma, and pituitary adenoma

GNHTC - Overview: Hereditary Thrombocytopenia Gene Panel, Next-Generation Sequencing, Varies

Evaluating hereditary thrombocytopenia disorders in patients with a personal or family history suggestive of a hereditary thrombocytopenia disorder Diagnosing hereditary thrombocytopenia disorders for patients in whom phenotypic testing is...

GNHMA - Overview: Hemophilia A, F8 Gene, Next-Generation Sequencing, Varies

Confirming a clinical diagnosis of hemophilia A in affected male patients with the identification of a disease-causing variant in the F8 gene Determining the disease-causing alteration within the F8 gene to delineate the underlying...

BPRPV - Overview: Bordetella pertussis and Bordetella parapertussis, Molecular Detection, PCR, Varies

Preferred diagnostic test for the detection of Bordetella pertussis or Bordetella parapertussis This test is not recommended for screening asymptomatic individuals who may carry B pertussis or parapertussis. This test is not recommended...

HEAG - Overview: Hepatitis B Virus e Antigen and Hepatitis B Virus e Antibody, Serum

Determining the presence or absence of detectable hepatitis B virus e antigen and antibody in monitoring infection status of individuals with chronic hepatitis B Determining infectivity of hepatitis B virus (HBV) carriers Monitoring...

IMMG - Overview: Immunoglobulins (IgG, IgA, and IgM), Serum

Detecting or monitoring of monoclonal gammopathies and immune deficiencies

GLBF - Overview: Glucose, Body Fluid

Aiding in the diagnosis of infection using body fluid specimens

OXYWB - Overview: Oxysterols, Blood

Investigating a possible diagnosis of Niemann-Pick disease type A, B, or C using whole blood specimens Monitoring of individuals with Niemann-Pick type C disease This test is not useful for the identification of carriers.

NSE - Overview: Neuron-Specific Enolase, Serum

A follow-up marker in patients with neuron-specific enolase-secreting tumors of any type An auxiliary test in the diagnosis of small cell lung carcinoma An auxiliary test in the diagnosis of carcinoids, islet cell tumors, and...

PNYG - Overview: Phenytoin, Total and Phenobarbital Group, Serum

Monitoring for appropriate therapeutic concentration of phenytoin and phenobarbital Assessing compliance or toxicity

STL - Overview: Enteric Pathogens Culture, Feces

Determining whether a bacterial enteric pathogen is the cause of diarrhea May be helpful in identifying the source of the infectious agent (eg, dairy products, poultry, water, or meat) This test is generally not useful for patients...

EBVQN - Overview: Epstein-Barr Virus DNA Detection and Quantification, Plasma

Diagnosis of Epstein-Barr virus (EBV)-associated infectious mononucleosis in individuals with equivocal or discordant EBV serologic marker test results Diagnosis of post-transplant lymphoproliferative disorders (PTLD), especially in...

EBVPV - Overview: Epstein-Barr Virus (EBV), Molecular Detection, PCR, Varies

Rapid qualitative detection of Epstein-Barr virus (EBV) DNA in specimens Diagnosis of disease due to EBV This test should not be used to screen asymptomatic patients.

8INHE - Overview: Factor VIII Inhibitor Evaluation, Plasma

Detecting the presence and titer of a specific factor inhibitor directed against coagulation factor VIII This test is not useful for the detection of a lupus-like circulating anticoagulant inhibitor, a nonspecific circulating...

GALCW - Overview: Galactocerebrosidase, Leukocytes

Diagnosis of Krabbe disease Follow-up testing for evaluation of an abnormal newborn screening result for Krabbe disease This test is not intended for carrier detection.

BAIPD - Overview: Bile Acids for Peroxisomal Disorders, Serum

Biomarker for peroxisomal biogenesis disorders, such as Zellweger spectrum disorder and single enzyme defects of bile acid synthesis, including D-bifunctional protein deficiency and alpha methyl CoA racemases Monitoring patients receiving...

ALWB - Overview: Aluminum, Blood

Preferred test for routine aluminum screening Monitoring metallic prosthetic implant wear

HOLDF - Overview: Hematologic Disorders, Fluorescence In Situ Hybridization (FISH) Hold, Varies

Processing the bone marrow or peripheral blood specimen but delaying fluorescence in situ hybridization analysis while preliminary morphologic assessment is in process

WESR - Overview: Whole Exome Sequencing Reanalysis, Varies

Identifying a diagnosis or additional variants associated with the phenotype in patients who previously have had a negative or inconclusive whole exome sequencing test Reanalyzing whole exome sequencing data when a patient (proband)...

FIGF1 - Overview: IGF-1, LC/MS

IGF-1, LC/MS

FFTRP - Overview: Trofile Co-Receptor Tropism Assay

Detect HIV-1 coreceptor tropism; determine eligibility for CCR5 antagonist therapy such as maraviroc (Selzentry)

ROMA2 - Overview: Risk Score, if Postmenopausal, Serum

Calculating risk assessment for finding an ovarian malignancy during surgery in postmenopausal women who present with an adnexal mass

SKETC - Overview: Ketones, Urine

Screening for the presence of ketoacidosis

CDSP - Overview: Celiac Disease Serology Cascade, Serum

Evaluating patients suspected of having celiac disease, including patients with compatible symptoms, patients with atypical symptoms, and individuals at increased risk (family history, previous diagnosis with associated disease, positivity...

LUCHM - Overview: LiquidHALLMARK ctDNA and ctRNA

As an alternative to invasive tissue biopsies to assist in tumor profiling for diagnosis, predicting prognosis, and identifying targeted therapies for the treatment and management of patients with a solid tumor This test is not useful 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)

TTBS - Overview: Testosterone, Total and Bioavailable, Serum

Recommended 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...

UCDP - Overview: Urea Cycle Disorders Gene Panel, Varies

Follow up for abnormal biochemical results suggestive of a urea cycle disorder (UCD) Establishing a molecular diagnosis for patients with a UCD Identifying variants within genes known to be associated with UCD, allowing for predictive...

STHPV - Overview: ThinPrep Screen with Human Papillomavirus (HPV) Reflex, Varies

Managing and triaging of patients, aged 21 years or older, with abnormal Pap results Screening for detection of high-risk (HR) human papillomavirus (HPV) genotypes associated with the development of cervical cancer Aids in triaging...

DTHPV - Overview: ThinPrep Diagnostic with Human Papillomavirus (HPV) Reflex, Varies

Management and triage of patients aged 21 years or older with abnormal Papanicolaou (Pap) results Diagnostic test for detection of human papillomavirus (HPV) high-risk genotypes associated with the development of cervical cancer Results...

GNTHR - Overview: Thrombosis Disorders, Comprehensive Gene Panel, Next-Generation Sequencing, Varies

Evaluating hereditary thrombosis in patients with a personal or family history suggestive of a hereditary thrombosis disorder Confirming a hereditary thrombosis disorder diagnosis with the identification of a known or suspected pathogenic...

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...

AFTDP - Overview: Inherited Frontotemporal Dementia and Amyotrophic Lateral Sclerosis Gene Panel, Varies

Establishing a molecular diagnosis for patients with frontotemporal dementia (FTD) and/or amyotrophic lateral sclerosis (ALS) Identifying variants within genes known to be associated with FTD and/or ALS, allowing for predictive testing of...

BARRP - Overview: Bartonella, Molecular Detection, PCR, Varies

Aiding in the diagnosis of Bartonella infection

ALB24 - Overview: Albumin, 24 Hour, Urine

Evaluating diabetic patients to assess the potential for early onset of nephropathy

BA48F - Overview: Bile Acids, Bowel Dysfunction, 48 Hour, Feces

Aids in evaluation of patients suspected of having irritable bowel syndrome-diarrhea symptoms due to bile acid malabsorption

AN3TS - Overview: Antineuronal Nuclear Antibody Type 3 (ANNA-3) Titer, Serum

Evaluating patients who present with a subacute neurological disorder of undetermined etiology and have risk factors for primary lung carcinoma Reporting an end titer result from serum specimens

A1AFS - Overview: Alpha-1-Antitrypsin Clearance, Feces and Serum

Diagnosing protein-losing enteropathies

HEVML - Overview: Hepatitis E Virus IgM Antibody Confirmation, Serum

Confirmation of reactive hepatitis E virus IgM antibody screening test results for the diagnosis of acute or recent (<6 months) hepatitis E infection

BRAFB - Overview: Cell-Free DNA BRAF V600, Blood

An alternative to invasive tissue biopsies for the determination of BRAF V600E and V600K alterations Identification of patients with cancer who are most likely to benefit from targeted therapies This test is not intended for serial...

C2 - Overview: C2 Complement, Functional, with Reflex, Serum

Investigation of a patient with a low (absent) hemolytic complement, with reflex testing to C3 and C4, if appropriate

UHBAG - Overview: Histoplasma and Blastomyces Antigen, Enzyme Immunoassay, Urine

Diagnosing Histoplasma capsulatum or Blastomyces dermatitidis infection, without differentiation between the organisms, using random urine specimens Monitor antigen levels following initiation of antifungal treatment

HAIGM - Overview: Hepatitis A Virus IgM Antibody, Serum

Diagnosis of acute or recent hepatitis A infection

SCGCV - Overview: Neisseria gonorrhoeae, Self-Collect, Amplified RNA, Vaginal

Detecting Neisseria gonorrhoeae using vaginal swabs collected by the patient in a healthcare setting This test is not intended for use in medico-legal applications.

PC1TS - Overview: Purkinje Cell Cytoplasmic Antibody Type 1 (PCA-1) Titer, Serum

Identifying female patients whose subacute cerebellar degeneration or peripheral neuropathy is due to a remote (autoimmune) effect of gynecologic or breast carcinoma Reporting an end titer result from serum specimens