QNADL - Overview: Adalimumab Quantitative, Serum

Therapeutic drug monitoring of adalimumab concentration

DBMD - Overview: Duchenne/Becker Muscular Dystrophy, DMD Gene, Large Deletion/Duplication Analysis, Varies

Confirmation of a clinical diagnosis of Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD) Distinguishing DMD from BMD in some cases, based on the type of deletion detected (allows for better prediction of...

CMAPC - Overview: Chromosomal Microarray, Autopsy, Products of Conception, or Stillbirth

Prenatal diagnosis of copy number changes (gains or losses) across the entire genome Diagnosing chromosomal causes for fetal death Determining recurrence risk of future pregnancy losses Determining the size, precise breakpoints, gene...

GLICP - Overview: CD8 T-Cell Immune Competence Panel, Global, Whole Blood

Determining over immunosuppression within the CD8 T-cell compartment, when used on transplant recipients and patients with autoimmune disorders receiving therapy with immunosuppressant agents

CYSGP - Overview: Cystinuria Gene Panel, Varies

Follow up for abnormal biochemical results suggestive of cystinuria Establishing a molecular diagnosis for patients with cystinuria Identifying variants within genes known to be associated with cystinuria, allowing for predictive testing...

CDIFS - Overview: Clostridioides difficile Culture with Antimicrobial Susceptibilities, Varies

Providing an isolate suitable for antimicrobial susceptibility testing to direct antimicrobial therapy of extraluminal infections and in cases of treatment failure

CDKZ - Overview: CDKN1C Gene, Full Gene Analysis, Varies

Confirming a clinical diagnosis of Beckwith-Wiedemann syndrome following a normal result on methylation analysis Confirming a clinical diagnosis of IMAGe (intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia...

MPSBS - Overview: Mucopolysaccharidosis, Blood Spot

Supporting the biochemical diagnosis of mucopolysaccharidoses types I, II, III, IV, or VI Quantification of heparan sulfate, dermatan sulfate, and keratan sulfate in dried blood spot specimens

IGFMS - Overview: Insulin-Like Growth Factor-1, Mass Spectrometry, Serum

Evaluation of growth disorders Evaluation of growth hormone deficiency or excess in children and adults Monitoring of recombinant human growth hormone treatment Follow-up of individuals with acromegaly and gigantism

CTDC - Overview: Connective Tissue Diseases Cascade, Serum

Evaluation of patients with signs and symptoms compatible with connective tissue diseases Initial evaluation of patients in clinical situations in which the prevalence of disease is low (6) This test is not recommended for: -Testing in...

LSDS - Overview: Lysosomal Disorders Screen, Random, Urine

Screening patients suspected of having a lysosomal disorder

HEXU - Overview: Iohexol, Timed Collection, Urine

Determining glomerular filtration rate in urine specimens

PBOU - Overview: Lead Occupational Exposure, Random, Urine

Detecting clinically significant lead exposure due to occupational exposure in random urine specimens This test is not a substitute for blood lead screening.

LITH - Overview: Lithium, Serum

Monitoring therapy of patients with bipolar disorders, including recurrent episodes of mania and depression Evaluating lithium toxicity

ASHA - Overview: Arsenic, Hair

Detection of nonacute arsenic exposure in hair specimens

BHISI - Overview: Bone Histomorphometry, Consultant Interpretation, Slides Only

Identifying undetermined metabolic bone disease in submitted slide specimens Diagnosing renal osteodystrophy Diagnosing osteomalacia Diagnosing osteoporosis Diagnosing Paget disease Assessing the effects of therapy Identifying...

SP5CS - Overview: Septin-5 Antibody, Cell Binding Assay, Serum

Detecting septin-5 IgG by cell-binding assay using serum specimens

RAT10 - Overview: Citrate/Creatinine Ratio, Urine

Calculating the citrate concentration per creatinine Diagnosing risk factors for patients with calcium kidney stones Monitoring results of therapy in patients with calcium stones or renal tubular acidosis

SP5CC - Overview: Septin-5 Antibody, Cell-Binding Assay, Spinal Fluid

Detecting septin-5 IgG by cell-binding assay using cerebrospinal fluid specimens

SP7TS - Overview: Septin-7 Antibody, Tissue Immunofluorescence Titer, Serum

Detecting septin-7 IgG in serum specimens Reporting an end titer result from serum specimens

REVE0 - Overview: Erythrocytosis Summary Interpretation

Incorporating and summarizing subsequent results into an overall interpretation for the REVE2 / Erythrocytosis Evaluation, Blood

NHEP - Overview: Hereditary Erythrocytosis Gene Panel, Next-Generation Sequencing, Varies

Evaluating an individual with JAK2-V617F negative erythrocytosis associated with lifelong sustained increased red blood cell (RBC) mass, elevated RBC count, hemoglobin, or hematocrit Providing an extensive genetic evaluation for patients...

CDCOM - Overview: Celiac Disease Comprehensive Cascade, Serum and Whole Blood

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...

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...

TGRP - Overview: Testosterone, Total and Free, Serum

Alternative, 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...

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...

PLAFL - Overview: Platelet Surface Glycoprotein by Flow Cytometry, Blood

Identification of markedly decreased CD41 (GPIIb) and CD61 (GPIIIa) expression levels, which are diagnostic for Glanzmann thrombasthenia Identification of markedly decreased CD42a (GPIX) and CD42b (GPIb-alpha) expression levels, which are...

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

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

3MT - Overview: 3-Methoxytyramine, 24 Hour, Urine

A first- and second-tier screening test for the presumptive diagnosis of catecholamine-secreting pheochromocytomas and paragangliomas Testing in conjunction or as an alternative to plasma metanephrines (PMET / Metanephrines, Fractionated,...

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

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

B12 - Overview: Vitamin B12 Assay, Serum

Investigation of macrocytic anemia Workup of deficiencies seen in megaloblastic anemias

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

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...

GPSY - Overview: Glucopsychosine, Blood Spot

Second-tier test when newborn screening results with reduced beta-glucosidase (GBA) activity are identified Diagnosis and monitoring of patients with Gaucher disease using dried blood spot specimens Monitoring a patient's response to...

HCCAD - Overview: Hepatitis C Virus Antibody Screen, Cadaveric or Hemolyzed Specimens, Asymptomatic, Serum

Screening cadaveric or hemolyzed serum specimens for hepatitis C virus (HCV) infection in asymptomatic individuals with or without risk factors for HCV infection Note: In accordance with National Coverage Determination guidance, this test...

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...

HCCDD - Overview: Hepatitis C Virus Antibody, Cadaveric or Hemolyzed Specimens, Symptomatic, Serum

Diagnosis of hepatitis C virus (HCV) infection in cadaveric or hemolyzed serum specimens from symptomatic patients with or without risk factors for HCV infection This test is not intended for screening blood, cell, or tissue donors. This...

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...

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...

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