F5DNA - Overview: Factor V Leiden (R506Q) Mutation, Blood

Patients with clinically suspected thrombophilia and: 1. Activated protein C (APC)-resistance either proven or suspected by a low or borderline APC-resistance ratio or 2. A family history of factor V Leiden

MGMR - Overview: Myasthenia Gravis Evaluation with Muscle-Specific Kinase (MuSK) Reflex, Serum

Diagnosing autoimmune myasthenia gravis (MG) in adults and children Distinguishing autoimmune from congenital MG in adults and children or other acquired forms of neuromuscular junction transmission disorders Establishing a quantitative...

AECDP - Overview: Angioedema and Complement Disorders Gene Panel, Varies

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of an inherited complement disorder, including complement deficiency Providing a comprehensive genetic evaluation for patients with a...

MGLE - Overview: Myasthenia Gravis/Lambert-Eaton Myasthenic Syndrome Evaluation, Serum

Confirming the autoimmune basis of a defect in neuromuscular transmission (eg, myasthenia gravis [MG], Lambert-Eaton myasthenic syndrome [LEMS]) Distinguishing LEMS from autoimmune forms of MG Providing a quantitative autoantibody...

C9ORF - Overview: C9orf72 Hexanucleotide Repeat, Molecular Analysis, Varies

Molecular confirmation of clinically suspected cases of c9FTD/ALS, frontotemporal dementia (FTD), or amyotrophic lateral sclerosis (ALS) Presymptomatic testing for individuals with a family history of c9FTD/ALS and a documented expansion...

SSB - Overview: SS-B/La Antibodies, IgG, Serum

Evaluating patients with clinical features or at-risk for connective tissue disease, especially Sjögren syndrome.

HYPBG - Overview: Hypobetalipoproteinemia Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of familial hypobetalipoproteinemia

ESTUF - Overview: Endometrial Stromal Tumors (EST), 7p15 (JAZF1), 6p21.32 (PHF1), 17p13.3 (YWHAE) Rearrangement, FISH, Tissue

Supporting the diagnosis of endometrial stromal tumors when used in conjunction with an anatomic pathology consultation

AFP - Overview: Alpha-Fetoprotein (AFP) Tumor Marker, Serum

Follow-up management of patients undergoing cancer therapy, especially for testicular and ovarian tumors and for hepatocellular carcinoma Often used in conjunction with human chorionic gonadotropin.(2) This test is not recommended as a...

CARNU - Overview: Carnitine, Random, Urine

Evaluation of patients with a clinical suspicion of a wide range of conditions including organic acidemias and fatty acid oxidation disorders Monitoring carnitine treatment

CTSU - Overview: Ceramide Trihexosides and Sulfatides, Random, Urine

Identifying patients with Fabry disease Identifying patients with metachromatic leukodystrophy Identifying patients with saposin B deficiency Identifying patients with multiple sulfatase deficiency Identifying patients with...

CMVM - Overview: Cytomegalovirus (CMV) Antibodies, IgM, Serum

Aiding in the diagnosis of acute infection with cytomegalovirus This test should not be used for screening blood or plasma donors.

HER2I - Overview: HER2 Immunostain, Technical Component Only

Qualitative detection of HER2 protein overexpression in a diagnostic setting in formalin-fixed paraffin-embedded tissue sections

CMVP - Overview: Cytomegalovirus (CMV) Antibodies, IgM and IgG, Serum

Aiding in the diagnosis of acute or past infection with cytomegalovirus (CMV) Determining prior exposure to CMV This test should not be used for screening blood or plasma donors.

SSAB - Overview: SS-A and SS-B Antibodies, IgG, Serum

Evaluating patients with signs and symptoms of a connective tissue disease in whom the test for antinuclear antibodies is positive, especially those with signs and symptoms consistent with Sjogren syndrome or lupus erythematosus This test...

BAMRP - Overview: Bile Acids Malabsorption Panel, Serum and Feces

Aiding in the evaluation of patients suspected of having chronic diarrhea symptoms due to bile acid malabsorption

NAGR - Overview: Hexosaminidase A and Total, Leukocytes/Molecular Reflex, Whole Blood

Carrier detection and diagnosis of Tay-Sachs disease Carrier detection and diagnosis of Sandhoff disease

ALUPP - Overview: Lupus Anticoagulant Profile, Plasma

Confirming or excluding the presence of lupus anticoagulant (LA), distinguishing LA from specific coagulation factor inhibitors and nonspecific inhibitors Investigating a prolonged activated thromboplastin time, especially when combined...

REVEI - Overview: Erythrocytosis Interpretation

Interpretation of Erythrocytosis Evaluation profile test Definitive, comprehensive, and economical evaluation of an individual with JAK2-negative erythrocytosis associated with lifelong sustained increased hemoglobin or hematocrit

TPNUQ - Overview: Thiopurine Methyltransferase (TPMT) and Nudix Hydrolase (NUDT15) Genotyping, Varies

Predicting potential for toxicity to thiopurine drugs (6-mercaptopurine, 6-thioguanine, and azathioprine)

THSCM - Overview: Thyroid Function Cascade, Serum

Screening for a diagnosis of thyroid disease

DOXA1 - Overview: Oxalate Analysis, Hemodialysate

Determining the amount of oxalate removed during a dialysis session Individualizing the dialysis prescription of hyperoxaluric patients

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...

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

IGM - Overview: Immunoglobulin M (IgM), Serum

Detecting or monitoring of IgM monoclonal gammopathies and IgM-related immune deficiencies

IGG - Overview: Immunoglobulin G (IgG), Serum

Detecting or monitoring of IgG monoclonal gammopathies and immune deficiencies

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

Detecting or monitoring of monoclonal gammopathies and immune deficiencies

DCORT - Overview: 11-Deoxycortisol, Serum

Diagnostic workup of patients with congenital adrenal hyperplasia Part of metyrapone testing in the workup of suspected secondary or tertiary adrenal insufficiency Part of metyrapone testing in the differential diagnostic workup of...

PNBX - Overview: Peripheral Nerve Pathology Consultation

Evaluating diseases of the nerve and disorders that affect nerve function

FSH - Overview: Follicle-Stimulating Hormone (FSH), Serum

An adjunct in the evaluation of menstrual irregularities Evaluating patients with suspected hypogonadism Predicting ovulation Evaluating infertility Diagnosing pituitary disorders

IGA - Overview: Immunoglobulin A (IgA), Serum

Detection or monitoring of IgA monoclonal gammopathies and IgA-related immune deficiencies

FSLAA - Overview: Soluble Liver Antigen (SLA) Autoantibody

Soluble Liver Antigen (SLA) Autoantibody

KI67 - Overview: Ki-67 (MIB-1) Immunostain, Technical Component Only

A marker of proliferation in neoplasms

PNTO - Overview: Streptococcus pneumoniae IgG Antibodies, Total, Serum

Assessing the IgG antibody response to active immunization with nonconjugated 23-valent pneumococcal vaccines Assessing the IgG antibody response to active immunization with conjugated 13-valent, 15-valent and 20-valent pneumococcal...

RAT11 - Overview: Oxalate/Creatinine Ratio, Urine

Calculating the oxalate concentration per creatinine

HERBN - Overview: HER2, Breast, Quantitative Immunohistochemistry, Automated, No Reflex

Determining overexpression of HER2 protein on formalin-fixed, paraffin-embedded tissue sections without a reflex to FISH testing This FDA-approved test is most frequently used to evaluate HER2 overexpression in breast cancer

PNTOR - Overview: Streptococcus pneumoniae IgG Antibodies, Total, with Reflex, Serum

Assessing the IgG antibody response to active immunization with nonconjugated 23-valent pneumococcal vaccines Assessing the IgG antibody response to active immunization with conjugated 13-valent, 15-valent and 20-valent pneumococcal...

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

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

HERMB - Overview: HER2, Breast, Semi-Quantitative Immunohistochemistry, Manual with HER2 FISH Reflex

Determining overexpression of HER2 protein on formalin-fixed, paraffin-embedded tissue sections

ACTH - Overview: Adrenocorticotropic Hormone, Plasma

Determining the cause of hypercortisolism and hypocortisolism

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...

RO60 - Overview: Ro60 Antibody, IgG, Serum

Evaluating patients at risk for connective tissue disease with or without interstitial lung disease Differentiating single vs double positivity for Ro52 and Ro60 antibodies in combination with anti-Ro60

ROPAN - Overview: Ro52 and Ro60 Antibodies, IgG, Serum

Evaluating patients at risk for connective tissue disease with or without interstitial lung disease Differentiation of antibodies to Ro52 and Ro60 in patients known to be positive for anti-SS-A (Ro) antibodies

RO52 - Overview: Ro52 Antibody, IgG, Serum

Evaluating patients at risk for connective tissue disease with or without interstitial lung disease Differentiating single vs double positivity for Ro52 and Ro60 antibodies in combination with anti-Ro60

CURC - Overview: Copper/Creatinine Ratio, Urine

Measurement of copper concentration of a part of the investigation of Wilson disease and obstructive liver disease using a random urine specimen

TTST - Overview: Testosterone, Total, Mass Spectrometry, Serum

Evaluating men with symptoms or signs of possible hypogonadism, such as loss of libido, erectile dysfunction, gynecomastia, osteoporosis, or infertility Evaluating boys with delayed or precocious puberty Monitoring testosterone...

HCVRP - Overview: Hepatitis C Virus (HCV) RNA Detection and Quantification, Real-Time Reverse Transcription-PCR, Prenatal, Serum

Detection of acute hepatitis C virus (HCV) infection before the appearance of HCV antibodies in serum (ie, <2 months from exposure) in women who are pregnant Detection and confirmation of chronic HCV infection in women who are...

SCN5A - Overview: Brugada Syndrome, SCN5A Full Gene Analysis, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of Brugada syndrome Establishing a diagnosis of Brugada syndrome

ALP - Overview: Alkaline Phosphatase, Serum

Diagnosing and monitoring treatment of liver, bone, intestinal, and parathyroid diseases

TRCHG - Overview: ToRCH Profile IgG, Serum

Determining immune status of individuals to the rubella virus following vaccination or prior exposure Indicating past or recent infection with Toxoplasma gondii, cytomegalovirus, or herpes simplex virus (HSV) Distinguishing between...