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)...

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...

GNHMB - Overview: Hemophilia B, F9 Gene, Next-Generation Sequencing, Varies

Confirming a clinical diagnosis of hemophilia B in affected male patients with the identification of a disease-causing variant in the F9 gene Determining the disease-causing alteration within the F9 gene to delineate the underlying...

IGFGP - Overview: Insulin-Like Growth Factor 1 and Insulin-Like Growth Factor-Binding Protein 3 Growth Panel, Serum

Diagnosing growth disorders Diagnosing adult growth hormone deficiency Monitoring of recombinant human growth hormone treatment Insulin-like growth factor binding protein 3 can be used as a possible adjunct to insulin-like growth...

PLINK - Overview: Paroxysmal Nocturnal Hemoglobinuria, PI-Linked Antigen, Blood

Screening for and confirming the diagnosis of paroxysmal nocturnal hemoglobinuria (PNH) Monitoring patients with PNH

HIAAR - Overview: 5-Hydroxyindoleacetic Acid, Random, Urine

Biochemical diagnosis and monitoring of intestinal carcinoid syndrome using random urine specimens

ASU24 - Overview: Arsenic with Reflex, 24 Hour, Urine

Preferred screening test for detection of arsenic exposure using 24-hour urine specimens

1A2Q - Overview: Cytochrome P450 1A2 Genotype, Varies

Identifying individuals who are poor, intermediate, normal (extensive) or rapid metabolizers of drugs metabolized by cytochrome P450 1A2 to assist drug therapy decision making

NUT1F - Overview: NUTM1 (15q14) Rearrangement, FISH, Tissue

Identifying NUTM1 gene rearrangements in patients with nuclear protein in testis midline carcinoma to aid in confirming or excluding the diagnosis

BUAUC - Overview: Busulfan, Intravenous Dose, Area Under the Curve, Plasma

Guiding dosage adjustments to achieve complete bone marrow ablation while minimizing dose-dependent toxicity

TLPMF - Overview: T-Cell Lymphoma, Specified FISH, Varies

Detecting, at diagnosis, common chromosome abnormalities associated with specific T-cell lymphoma subtypes using client specified probes

THSCM - Overview: Thyroid Function Cascade, Serum

Screening for a diagnosis of thyroid disease

HRSPF - Overview: Horse Dander, IgE with Reflex to Horse Dander Component, IgE, Serum

Evaluating patients with suspected horse dander allergy

GALT - Overview: Galactose-1-Phosphate Uridyltransferase, Blood

Diagnosis of galactose-1-phosphate uridyltransferase deficiency, the most common cause of galactosemia Confirmation of abnormal state newborn screening results

HSVG - Overview: Herpes Simplex Virus (HSV) Type 1- and Type 2-Specific Antibodies, IgG, Serum

Determining whether a patient has been previously exposed to herpes simplex virus (HSV) types 1 and 2 Distinguishing between infection caused by HSV types 1 and 2, especially in patients with subclinical or unrecognized HSV infection...

WGSEQ - Overview: Gamma-Globin Full Gene Sequencing, Varies

An adjunct in the interpretation of hemoglobin electrophoresis results Evaluation for suspected gamma variants or nondeletional hereditary persistence of fetal hemoglobin Assessment of unstable gamma chain variants when other tests for...

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...

FAO - Overview: Fatty Acid Oxidation Probe Assay, Fibroblast Culture

In vitro confirmation of biochemical diagnoses of the following fatty acid oxidation disorders: -Short-chain acyl-CoA dehydrogenase deficiency -Medium-chain acyl-CoA dehydrogenase deficiency -Long-chain 3-hydroxyacyl-CoA dehydrogenase...

MRSAP - Overview: Methicillin Resistant Staphylococcus aureus, PCR, Nasal

Rapid screening test for Staphylococcus aureus nasal carriage that, if positive, indicates whether the S aureus is methicillin susceptible or resistant This test should not be used to guide or monitor treatment for methicillin-resistant S...

INHB - Overview: Inhibin B, Serum

Aiding in the diagnosis of granulosa cell tumors and mucinous epithelial ovarian tumors Monitoring of patients with granulosa cell tumors and epithelial mucinous-type tumors of the ovary known to overexpress inhibin B As an adjunct to...

AATTF - Overview: Antithrombin Activity, with Reflex to Antithrombin Antigen, Plasma

Diagnosis of antithrombin deficiency, acquired or congenital

ARSAW - Overview: Arylsulfatase A, Leukocytes

Preferred enzymatic test for detection of arylsulfatase A deficiency This test is not suitable for carrier detection.

ANAES - Overview: Bacterial Culture, Anaerobic with Antimicrobial Susceptibilities, Varies

Diagnosing anaerobic bacterial infections Directing antimicrobial therapy for anaerobic infections

SGTF - Overview: MYB (6q23) Rearrangement FISH, Tissue

Assessing for MYB gene rearrangements in patients with primary salivary gland carcinoma to aid in confirming or excluding the diagnosis of primary salivary gland adenoid cystic carcinomas

MSTF - Overview: Myeloid Sarcoma, FISH, Tissue

Supporting the diagnosis of myeloid sarcoma when coordinated with a surgical pathology consultation

MDSMF - Overview: Myelodysplastic Syndrome (MDS), Specified FISH, Varies

Detecting a neoplastic clone associated with the common chromosome abnormalities seen in patients with myelodysplastic syndromes or other myeloid malignancies using client specified probes Evaluating specimens in which standard...

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...

CMVPV - Overview: Cytomegalovirus (CMV) Molecular Detection, PCR, Varies

Rapid qualitative detection of cytomegalovirus (CMV) DNA This test is not intended for the monitoring of CMV disease progression.

CHRHB - Overview: Chromosome Analysis, Hematologic Disorders, Blood

Assisting in the classification and follow-up of certain malignant hematological disorders when bone marrow is not available This test is not useful for congenital disorders.

CMAPT - Overview: Chromosomal Microarray, Tumor, Formalin-Fixed Paraffin-Embedded

Genomic characterization of tumor for copy number imbalances and loss of heterozygosity Assisting in the diagnosis and classification of malignant neoplasms Evaluating the prognosis for patients with malignant tumors

EPCRB - Overview: Ehrlichia/Anaplasma, Molecular Detection, PCR, Blood

Evaluating patients suspected of acute anaplasmosis or ehrlichiosis This test should not be used for screening asymptomatic individuals.

GALTP - Overview: Galactose-1-Phosphate Uridyltransferase Biochemical Phenotyping, Erythrocytes

Determining the biochemical phenotype for galactosemia when enzymatic and molecular results are incongruent

HSVPV - Overview: Herpes Simplex Virus (HSV), Molecular Detection, PCR, Varies

Aiding in the rapid diagnosis of herpes simplex virus (HSV) infections, including qualitative detection of HSV DNA in nonblood clinical specimens This test should not be used to screen asymptomatic patients.

EURO - Overview: Phospholipase A2 Receptor, Enzyme Linked Immunosorbent Assay, Serum

Distinguishing primary from secondary membranous nephropathy

PDETS - Overview: Phosphodiesterase 10A (PDE10A) IgG, Tissue Immunofluorescence Titer, Serum

Reporting an end titer result from phosphodiesterase 10A (PDE10A) in serum specimens Evaluation of autoimmune/paraneoplastic neurological syndromes among patients presenting with movement disorders and encephalopathy

PDEIS - Overview: Phosphodiesterase 10A (PDE10A) IgG, Tissue Immunofluorescence, Serum

Detecting phosphodiesterase 10A (PDE10A)-IgG in serum specimens Evaluation of autoimmune/paraneoplastic neurological syndromes among patients presenting with movement disorders and encephalopathy

PDEIC - Overview: Phosphodiesterase 10A (PDE10A) IgG, Tissue Immunofluorescence, Spinal Fluid

Detecting phosphodiesterase 10A (PDE10A)-IgG in cerebrospinal fluid specimens Evaluation of autoimmune/paraneoplastic neurological syndromes among patients presenting with movement disorders and encephalopathy

PDETC - Overview: Phosphodiesterase 10A (PDE10A) IgG, Tissue Immunofluorescence Titer, Spinal Fluid

Reporting an end titer result from phosphodiesterase 10A (PDE10A) in spinal fluid specimens Evaluation of autoimmune/paraneoplastic neurological syndromes among patients presenting with movement disorders and encephalopathy

TLB - Overview: Thallium, Blood

Detecting toxic exposure in whole blood specimens

PGKC - Overview: Phosphoglycerate Kinase Enzyme Activity, Blood

Evaluation of individuals with Coombs-negative nonspherocytic hemolytic anemia, especially if X-linked inheritance pattern. Evaluation of individuals with myopathic or neurologic symptoms

5BETH - Overview: Factor V Bethesda Units, Plasma

Detecting and quantifying the presence and titer of a specific factor inhibitor directed against coagulation factor V

LEVE - Overview: Levetiracetam, Serum

Monitoring serum concentration of levetiracetam, particularly in patients with kidney disease Assessing compliance with levetiracetam therapy Assessing potential toxicity of levetiracetam

APBTC - Overview: Adaptor Protein 3 Beta2 (AP3B2) Antibody, Tissue Immunofluorescence Titer, Spinal Fluid

The differential diagnosis of patients presenting with mixed cerebellar and sensory ataxia and myeloneuropathy Reporting an end titer result from spinal fluid specimens

ALKLC - Overview: Anaplastic Lymphoma Kinase for Lung Cancer, Immunohistochemistry

Identification of anaplastic lymphoma kinase overexpression Diagnosis of inflammatory myofibroblastic tumor, anaplastic large-cell lymphoma, and for targeted therapy of lung adenocarcinoma

BHYD - Overview: Beta-Hydroxybutyrate, Serum

Monitoring therapy for diabetic ketoacidosis Investigating the differential diagnosis of any patient presenting to the emergency room with hypoglycemia, acidosis, suspected alcohol ingestion, or an unexplained increase in the anion gap...

METR1 - Overview: Cytochrome b5 Reductase Enzyme Activity, Blood

Evaluation of patients with cyanosis Confirming cases of suspected cytochrome b5 reductase (methemoglobin reductase) deficiency Functional studies in families with cytochrome b5 reductase deficiency

NCDTS - Overview: Neurochondrin Antibody, Tissue Immunofluorescence Titer, Serum

Detecting neurochondrin-IgG in serum from patients presenting with cerebellar and brainstem syndrome Reporting an end titer result from serum specimens

NAACD - Overview: N-Acetylaspartic Acid, Canavan Disease, Random, Urine

Diagnosis and monitoring of individuals with Canavan disease Follow-up quantitation of abnormal organic acid elevations of N-acetylaspartic acid

CITR2 - Overview: Citrate Concentration, Random, Urine

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

CCTR - Overview: Calcium/Creatinine Ratio, Random, Urine

Calculation of calcium concentration per creatinine concentration