TALDO - Overview: Polyols, Quantitative, Urine

Diagnosing deficiencies of transaldolase, transketolase, sedoheptulose, or ribose-5-phosphate isomerase

PUPYP - Overview: Purines and Pyrimidines Panel, Plasma

Evaluating patients with symptoms suspicious for disorders of purine and pyrimidine metabolism Monitoring patients with disorders of purine and pyrimidine metabolism Laboratory evaluation of primary and secondary hyperuricemias Assessing...

SLC1Q - Overview: Solute Carrier Organic Anion Transporter Family Member 1B1 (SLCO1B1) Genotype, Statin, Varies

Predicting risk for statin-associated myopathy in patients beginning statin therapy, especially simvastatin therapy Determining a potential statin lipid lowering response, especially when using pravastatin

TVRNA - Overview: Trichomonas vaginalis, Nucleic Acid Amplification, Varies

Detecting Trichomonas vaginalis in urine, cervical/endocervical or vaginal specimen types

TOSU - Overview: Targeted Opioid Screen, Random, Urine

Determining compliance or identifying illicit opioid drug use using urine specimens This test is not intended for employment-related testing.

STSH - Overview: Thyroid-Stimulating Hormone-Sensitive (s-TSH), Serum

Screening for thyroid dysfunction and detecting mild (subclinical), as well as overt, primary hypo- or hyperthyroidism in ambulatory patients Monitoring patients on thyroid replacement therapy Confirmation of thyrotropin (TSH, formerly...

TOPSU - Overview: Targeted Opioid Screen, Random, Urine

Qualitatively (present vs not detected) identifying 33 opioid compounds (parent drug and metabolites) in urine to help determine compliance or identify illicit opioid drug use This test is not intended for use in employment-related...

APGP - Overview: Acute Porphyria Gene Panel, Varies

Establishing a molecular diagnosis for patients with acute porphyria Identifying variants within genes known to be associated with acute porphyria, allowing for predictive testing of at-risk family members

AFXN - Overview: Friedreich Ataxia, Repeat Expansion Analysis, Varies

Molecular confirmation of clinically suspected Friedreich ataxia

HBOCZ - Overview: BRCA1/BRCA2 Genes, Full Gene Analysis, Varies

Evaluating patients with a personal or family history suggestive of hereditary breast and ovarian cancer (HBOC) syndrome Establishing a diagnosis of HBOC syndrome allowing for targeted cancer surveillance based on associated risks...

PM3CX - Overview: Lymph3Cx Assay, Primary Mediastinal Large B-cell Lymphoma and Diffuse Large B-cell Lymphoma, mRNA Gene Expression, NanoString, Tissue

Only indicated for formalin-fixed paraffin-embedded specimens from patients diagnosed with large B-cell lymphoma

LLTOT - Overview: Leukemia and Lymphoma Immunophenotyping, Technical Only, Tissue

Evaluation of tissues for potential involvement by: -Chronic lymphoproliferative disorders -Malignant lymphomas -Acute lymphoblastic leukemia -Acute myelogenous leukemia

BRGYP - Overview: Hereditary Breast/Gynecologic Cancer Panel, Varies

Evaluating patients with a personal or family history suggestive of a hereditary breast or gynecological cancer syndrome Establishing a diagnosis of a hereditary breast or gynecological cancer syndrome allowing for targeted cancer...

PRS8P - Overview: Hereditary Prostate Cancer Panel, Varies

Evaluating patients with a personal or family history suggestive of a hereditary prostate cancer syndrome Establishing a diagnosis of a hereditary prostate cancer syndrome allowing for targeted cancer surveillance based on associated...

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

G6PD1 - Overview: Glucose 6-Phosphate Dehydrogenase Enzyme Activity, Blood

Evaluation of individuals with episodic or chronic Coombs-negative nonspherocytic hemolytic anemia Rapid testing to assess glucose 6-phosphate dehydrogenase (G6PD) enzyme capacity prior to rasburicase or other therapies that may cause...

TBBS - Overview: Quantitative Lymphocyte Subsets: T, B, and Natural Killer (NK) Cells, Blood

Serial monitoring of CD4 T-cell count in patients who are HIV-positive Follow-up and diagnostic evaluation of primary immunodeficiencies, including severe combined immunodeficiency Immune monitoring following immunosuppressive therapy...

3MGAP - Overview: 3-Methylglutaconic Aciduria Panel, Varies

Follow up for abnormal biochemical results suggestive of 3-methylglutaconic aciduria (3-MGA) Establishing a molecular diagnosis for patients with 3-MGA Identifying variants within genes known to be associated with3-MGA, allowing for...

VHLZZ - Overview: Von Hippel Lindau Syndrome, VHL, Full Gene Analysis, Varies

Evaluating patients with a personal or family history suggestive of Von Hippel-Lindau (VHL) syndrome Establishing a diagnosis of a VHL allowing for targeted cancer surveillance based on associated risks Identifying genetic variants...

MDS2 - Overview: Movement Disorder, Autoimmune/Paraneoplastic Evaluation, Serum

Evaluating patients with suspected paraneoplastic or other autoimmune movement disorders including patients with ataxia, brainstem encephalitis, chorea, dyskinesias, myoclonus, and parkinsonism using serum specimens

COGBF - Overview: B-Cell Acute Lymphoblastic Leukemia/Lymphoma (ALL), Children's Oncology Group Enrollment Testing, FISH, Varies

Evaluation of pediatric bone marrow and peripheral blood specimens by fluorescence in situ hybridization probe analysis for classic rearrangements and chromosomal copy number changes associated with B-cell acute lymphoblastic...

CMPRE - Overview: Family Member Comparator Specimen for Exome Sequencing, Varies

Submitting a biological family member's specimen to be used as a comparator for affected patients (probands) undergoing whole exome sequencing

DMITO - Overview: Mitochondrial DNA Deletion Heteroplasmy, ddPCR, Varies

Assessing the heteroplasmy level of previously detected large mitochondrial DNA (mtDNA) deletions. Screening family members for previously detected large mtDNA deletions. This test is not recommended for first tier diagnostic testing...

MISCF - Overview: Miscellaneous Studies Using Chromosome-Specific Probes, FISH

Resolution of unusual or complex structural alterations, questionable mosaicism, and unbalanced chromosome abnormalities that cannot be resolved by chromosome or chromosomal microarray analysis Identifying gain, loss, or rearrangement of...

G6PDC - Overview: Glucose 6 Phosphate Dehydrogenase Enzyme Activity, Blood

Evaluation of individuals with episodic or chronic Coombs-negative nonspherocytic hemolytic anemia Rapid testing to assess glucose-6-phosphate dehydrogenase (G6PD) enzyme capacity prior to rasburicase or other therapies that may cause...

CLPMG - Overview: Phospholipid (Cardiolipin) Antibodies, IgG and IgM, Serum

The following clinical situations: -Unexplained arterial or venous thrombosis -A history of pregnancy morbidity defined as 1 or more unexplained deaths of a morphologically normal fetus beyond the 10th week of gestation, 1 or more premature...

SESPF - Overview: Sesame Seed, IgE, with Reflex to Sesame Seed Component, IgE, Serum

Evaluating patients with suspected sesame seed allergy

TSTGP - Overview: Tissue Transglutaminase Antibodies, IgA and IgG Profile, Serum

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

MCM24 - Overview: Mast Cell Mediators, 24 Hour, Urine

Evaluating patients at risk for mast cell activation syndrome (eg, systemic mastocytosis) using 24-hour urine collections

ALB24 - Overview: Albumin, 24 Hour, Urine

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

ALU - Overview: Aluminum, 24 Hour, Urine

Monitoring aluminum exposure Preferred matrix for assessment of exposure in patients with normal kidney function since rapidly filtered by kidneys Monitoring metallic prosthetic implant wear This test is not an acceptable substitute for...

SCCTT - Overview: Chlamydia trachomatis, Self-Collect, Nucleic Acid Amplification, Throat

Detecting Chlamydia trachomatis using throat swabs collected by the patient in a healthcare setting This test is not intended for use in medico-legal applications. This test is not useful for the detection of other Chlamydia species.

SCCTR - Overview: Chlamydia trachomatis, Self-Collect, Nucleic Acid Amplification, Rectal

Detecting Chlamydia trachomatis using rectal swabs collected by the patient in a healthcare setting This test is not intended for use in medico-legal applications. This test is not useful for the detection of other Chlamydia species.

DCME - Overview: Dendritic Cell and Monocyte Enumeration, Blood

Aiding in the diagnosis of patients suspected of defects in innate immunity, particularly those involving monocyte and dendritic cell development This test has not been validated for the diagnosis of hematologic malignancies.

CLLMD - Overview: Chronic Lymphocytic Leukemia (CLL) Monitoring Minimal Residual Disease Detection, Flow Cytometry, Varies

Confirming the presence or absence of minimal residual disease in patients with known chronic lymphocytic leukemia who are either post-chemo/immunotherapy or post-bone marrow transplant

SLFAT - Overview: Cryptococcus Antigen Titer, Lateral Flow Assay, Serum

Monitoring Cryptococcus antigen titers in serum Aiding in the diagnosis of cryptococcosis This test should not be used as a test of cure or to guide treatment decisions.

CRBF - Overview: Creatinine, Body Fluid

Identifying the presence of urine as a cause for accumulation of fluid in a body compartment Measuring the ultrafiltration capacity of the peritoneal membrane in patients receiving peritoneal dialysis

LPALD - Overview: Lipoprotein (a) and Low-Density Lipoprotein Cholesterol, Serum

Evaluation of the contribution of lipoprotein (a) (Lp[a])-cholesterol within measured low-density lipoprotein cholesterol Evaluation of increased risk for cardiovascular disease and events: -Most appropriately measured in individuals at...

LHPED - Overview: Luteinizing Hormone (LH), Pediatrics, Serum

Diagnosis of precocious puberty and delayed puberty in children

LRBA - Overview: Lipopolysaccharide-Responsive Beige-Like Anchor Protein (LRBA) Deficiency, Blood

Aiding in the diagnosis of lipopolysaccharide-responsive beige-like anchor protein (LRBA) deficiency This test is not useful for identifying a carrier status for LRBA deficiency.

MUXF3 - Overview: MUXF3 (Cross-reactive Carbohydrate Determinant), IgE, Serum

Evaluation for the presence of antibodies to cross-reactive carbohydrate determinates (CCD) Investigation of clinically unexpected positive IgE antibody testing in a wide variety of plant and invertebrate allergens

MPO - Overview: Myeloperoxidase Antibodies, IgG, Serum

Evaluating patients with clinical features anti-neutrophil cytoplasmic antibody associated vasculitis, specifically granulomatosis with polyangiitis, microscopic polyangiitis (MPA), and eosinophilic granulomatosis with polyangiitis...

NCLW - Overview: Neuronal Ceroid Lipofuscinosis, Two-Enzyme Panel, Leukocytes

Supporting the biochemical diagnosis of two neuronal ceroid lipofuscinoses, CLN1 and CLN2 in whole blood specimens This test is not useful for carrier detection.

T821Q - Overview: RUNX1-RUNX1T1 Translocation (8;21), Minimal Residual Disease Monitoring, Quantitative, Varies

Detection of RUNX1-RUNX1T1 gene fusion in acute myeloid leukemia patients at the time of diagnosis Minimal residual disease monitoring during the clinical and therapeutic course of these patients

SBULB - Overview: Spinobulbar Muscular Atrophy (Kennedy Disease), Molecular Analysis, Varies

Molecular confirmation of clinically suspected cases of sporadic or familial spinobulbar muscular atrophy (SBMA) Presymptomatic testing for individuals with a family history of SBMA and a documented expansion in the androgen receptor (AR)...

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,...

VZPG - Overview: Varicella-Zoster Antibody, IgG, Serum

Determination of immune status of individuals to the varicella-zoster virus (VZV) Documentation of previous infection with VZV in an individual without a previous record of immunization to VZV

YERSC - Overview: Yersinia Culture, Feces

Determining whether Yersinia species may be the cause of diarrhea Reflexive testing for Yersinia species from nucleic acid amplification test-positive feces This test is generally not useful for patients hospitalized more than 3 days...

IGAS - Overview: IgA Subclasses, Serum

Investigation of immune deficiency due to IgA2 deficiency Evaluating patients with anaphylactic transfusion reactions

HLLFH - Overview: Hematologic Disorders, Leukemia/Lymphoma; Flow Hold, Varies

Evaluating lymphocytoses of undetermined etiology Identifying B- and T-cell lymphoproliferative disorders involving blood and bone marrow Distinguishing acute lymphoblastic leukemia (ALL) from acute myeloid leukemia (AML) Immunologic...