BHDZ - Overview: Birt-Hogg-Dube Syndrome, FLCN, Full Gene Analysis, Varies

Evaluating patients with a personal or family history suggestive of Birt-Hogg-Dube (BHD) syndrome Establishing a diagnosis of BHD syndrome allowing for targeted cancer surveillance based on associated risks Identifying variants within...

BHCG - Overview: Beta-Human Chorionic Gonadotropin, Quantitative, Serum

Monitoring patients for retained products of conception Aiding in the diagnosis of gestational trophoblastic disease (GTD), testicular tumors, ovarian germ cell tumors, teratomas, and, rarely, other human chorionic gonadotropin...

HYPTG - Overview: Hypertriglyceridemia Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of hereditary forms of primary hypertriglyceridemia and related conditions.

CORTC - Overview: Corticosterone, Serum

Diagnosis of suspected 11-hydroxylase deficiency, including the differential diagnosis of 11-beta-hydroxylase 1 (CYP11B1) versus 11-beta-hydroxylase 2 (CYP11B2) deficiency, and the diagnosis of glucocorticoid-responsive hyperaldosteronism...

CMAP - Overview: Chromosomal Microarray, Prenatal, Amniotic Fluid/Chorionic Villus Sampling

Prenatal diagnosis of copy number changes (gains or losses) across the entire genome Determining the size, precise breakpoints, gene content, and any unappreciated complexity of abnormalities detected by other methods, such as conventional...

CARBR - Overview: Carbamazepine Hypersensitivity Pharmacogenomics, Varies

Identifying individuals with increased risk of carbamazepine- or oxcarbazepine-associated cutaneous adverse reactions

PATHC - Overview: Pathology Consultation

A subspecialty second opinion for a specific pathology question referred by a primary pathologist Note: A consultative opinion is not a full rendering of a primary diagnostic report (eg, multiple parts, margin status, CAP...

PMHLH - Overview: Postmortem Primary Hemophagocytic Lymphohistiocytosis (HLH) Gene Panel, Tissue

Providing a comprehensive postmortem genetic evaluation in the setting of a death attributed to primary hemophagocytic lymphohistiocytosis Identifying a disease-causing variant in the decedent, which may assist with risk assessment and...

NMS1 - Overview: Necrotizing Myopathy Evaluation, Serum

Evaluating patients with suspected necrotizing autoimmune myopathy

PMSBB - Overview: Postmortem Screening, Bile and Blood Spot

Postmortem evaluation of individuals at any age who died suddenly or unexpectedly; testing is particularly recommended under the following circumstances (risk factors): -Family history of sudden infant death syndrome or other sudden...

NGSFX - Overview: Reanalysis of Acute Myeloid Leukemia 4- or 11- Gene Panels, Additional Genes

Comprehensive reanalysis of a larger set of genes/gene regions when a more targeted gene panel was previously performed in this laboratory Evaluation of known or suspected hematologic neoplasms, specifically of myeloid origin (eg, acute...

MPSER - Overview: Mucopolysaccharides Quantitative, Serum

Quantification of dermatan sulfate, heparan sulfate, and keratan sulfate in serum to support the biochemical diagnosis of mucopolysaccharidoses types I, II, III, IV, VI, or VII

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...

MSP3 - Overview: Multiple Sclerosis (MS) Cascade, Serum and Spinal Fluid

Diagnosing multiple sclerosis, especially helpful in patients with equivocal clinical or radiological findings

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...

NAGW - Overview: Hexosaminidase A and Total Hexosaminidase, Leukocytes

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

IETG - Overview: Interference Evaluation Heterophile, Thyroglobulin Tumor Marker, Serum

Evaluation of suspected interference from heterophile antibodies causing a falsely elevated thyroglobulin result

HTGR - Overview: Thyroglobulin, Tumor Marker Reflex, Serum

Reporting of accurate thyroglobulin results, depending on the antithyroglobulin antibodies status of the patient Accurate measurement of serum thyroglobulin in patients with known or suspected antithyroglobulin autoantibodies or possible...

SCCA - Overview: Squamous Cell Carcinoma Antigen, Serum

Aiding in the evaluation and monitoring of squamous cell carcinoma of the head and neck, lung, and cervix This test should not be used to screen for carcinoma or other disorders including those of the liver, lung, or skin.

BLWRF - Overview: Walnut-Food, IgE, with Reflex to Walnut-Food Components, IgE, Serum

Evaluation of patients with suspected walnut-food allergy

DOCS - Overview: 11-Deoxycorticosterone, Serum

Diagnosis of suspected 11-hydroxylase deficiency, including the differential diagnosis of 11-beta-hydroxylase 1 (CYP11B1) versus 11-beta-hydroxylase 2 (CYP11B2) deficiency Diagnosis of glucocorticoid-responsive...

AFPSF - Overview: Alpha-Fetoprotein (AFP), Spinal Fluid

An adjunct in the diagnosis of central nervous system (CNS) germinomas and meningeal carcinomatosis Evaluating the presence of germ-cell tumors in the CNS, in conjunction with cerebrospinal fluid (CSF) beta-human chorionic gonadotropin...

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...

ALLOI - Overview: Allo-isoleucine, Blood Spot

Evaluation of newborn screening specimens that test positive for branched-chain amino acids elevations Follow-up of patients with maple syrup urine disease

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

Diagnosing protein-losing enteropathies

FBILM - Overview: Biliary Tract Malignancy-Cytology, FISH, Varies

Assessing bile duct brushing or hepatobiliary brushing specimens for bile tract malignancy

CMAFF - Overview: Chromosomal Microarray (CMA) Familial Testing, FISH

Determining the inheritance pattern of copy number changes previously identified by chromosomal microarray analysis in a patient and aiding in the clinical interpretation of the pathogenicity of the copy number change

ADAMS - Overview: ADAMTS13 Activity Assay, Plasma

Assisting with the diagnosis and monitoring of congenital, immune, or acquired thrombotic thrombocytopenic purpura

C5OHU - Overview: C5-OH Acylcarnitine, Quantitative, Random, Urine

Evaluation of patients with an abnormal newborn screen showing elevations of 3-hydroxyisovaleryl-/2-methyl-3-hydroxybutyryl-carnitine

199PT - Overview: Carbohydrate Antigen 19-9 (CA 19-9), Peritoneal Fluid

An adjunct to cytology to differentiate between malignancy-related ascites and benign causes of ascites formation

CMVLR - Overview: Cytomegalovirus (CMV) Molecular Detection, PCR, Lower Respiratory

Rapid qualitative detection of cytomegalovirus (CMV) DNA in lower respiratory specimens This test is not intended for the monitoring of CMV disease progression or response to therapy.

HAVTA - Overview: Hepatitis A Virus Total Antibodies, Serum

Detection of recent or previous exposure or immunity to hepatitis A. This test should not be used as a screening or confirmatory test for blood or solid or soft tissue donor specimens.

HPFH - Overview: Hemoglobin F Distribution, Blood

Distinguishing large deletional hereditary persistence of fetal hemoglobin from other conditions with increased percentage of fetal hemoglobin (Hb F) Determining the distribution of Hb F within red blood cells

ERPR - Overview: Estrogen/Progesterone Receptor, Semi-Quantitative Immunohistochemistry, Manual

Guiding decisions on hormonal therapy in patients with breast carcinomas This test is not useful for cases of lobular carcinoma in situ.

GLP - Overview: Glucagon, Plasma

Diagnosis and follow-up of glucagonomas and other glucagon-producing tumors Assessing diabetic patients with problematic hyper- or hypoglycemic episodes (extremely limited utility)

HEX4 - Overview: Glucotetrasaccharides, Random, Urine

Diagnosing Pompe disease, when used in conjunction with acid alpha-glucosidase enzyme activity assays and molecular genetic analysis of the GAA gene Monitoring patients with Pompe disease on enzyme replacement therapy May support the...

CORTU - Overview: Cortisol, Free, 24 Hour, Urine

Preferred screening test for Cushing syndrome Diagnosis of pseudo-hyperaldosteronism due to excessive licorice consumption Test may not be useful in the evaluation of adrenal insufficiency.

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

CMVG - Overview: Cytomegalovirus (CMV) Antibodies, IgG, Serum

Determining whether a patient (especially transplant recipients and organ and blood donors) has had a recent infection or previous exposure to cytomegalovirus

CEE20 - Overview: CD20 Cell Expression Evaluation, Varies

Detecting cell-surface antigens on malignant cells that are potential therapeutic antibody targets, specifically CD20 Determining the eligibility of patients for monoclonal antibody therapies Monitoring response to the therapeutic...

CAVP - Overview: California Virus (La Crosse) IgG and IgM, Serum

Aiding the diagnosis of California (La Crosse) encephalitis using serum specimens

TQ10 - Overview: Coenzyme Q10, Total, Plasma

Diagnosis of primary coenzyme Q10 (CoQ10) deficiencies in some patients who are not supplemented with CoQ10 Monitoring patients receiving statin therapy Monitoring CoQ10 status during treatment of various degenerative conditions,...

CHF8P - Overview: Chromogenic Factor VIII Inhibitor Bethesda Profile, Plasma

Detecting the presence and titer of a specific factor inhibitor directed against coagulation factor VIII for patients on emicizumab (Hemlibra) Detecting the presence and titer of an inhibitor directed against factor VIII This test is not...

CALPR - Overview: Calprotectin, Feces

Evaluating patients suspected of having a gastrointestinal inflammatory process Distinguishing inflammatory bowel disease from irritable bowel syndrome, when used in conjunction with other diagnostic modalities, including endoscopy,...

LAGU - Overview: Legionella Antigen, Random, Urine

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

KKRP - Overview: Kingella kingae, Molecular Detection, PCR, Varies

Aiding in the diagnosis of Kingella kingae infection using tissue or synovial fluid specimens

PKU - Overview: Phenylalanine and Tyrosine, Plasma

Monitoring effectiveness of dietary therapy in patients with hyperphenylalaninemia

PRCAL - Overview: Procalcitonin, Serum

Monitoring antibiotic therapy and all-cause mortality for patients diagnosed with severe sepsis or septic shock in the Intensive Care Unit (ICU) or when obtained in the emergency department or other medical wards prior to ICU admission

PIPU - Overview: Pipecolic Acid, Random, Urine

Differentiating between disorders of peroxisomal biogenesis (eg, Zellweger syndrome) and disorders with loss of a single peroxisomal function Detecting abnormal elevations of pipecolic acid in urine

PMLR - Overview: PML::RARA Quantitative, PCR, Varies

Diagnosis of acute promyelocytic leukemia (APL) Detection of residual or recurrent APL Monitoring the level of PML::RARA (promyelocytic leukemia/retinoic acid receptor alpha) in APL patients