Test Catalog
IMSNP - Overview: Inherited Motor and Sensory Neuropathy Gene Panel, Varies
Establishing a molecular diagnosis for patients with hereditary motor and sensory neuropathy (HMSN) or Charcot-Marie-Tooth (CMT) disease Identifying variants within genes known to be associated with HMSN or CMT disease, allowing for...
CRCGP - Overview: Hereditary Gastrointestinal Cancer Panel, Varies
Evaluating patients with a personal or family history suggestive of a hereditary gastrointestinal cancer or hereditary polyposis syndrome Establishing a diagnosis of a hereditary gastrointestinal cancer syndrome or hereditary polyposis...
ISNP - Overview: Inherited Sensory Neuropathy Gene Panel, Varies
Establishing a molecular diagnosis for patients with hereditary sensory (HSN) and autonomic neuropathy (HSAN) Identifying variants within genes known to be associated with HSN and HSAN, allowing for predictive testing of at-risk family...
IMNP - Overview: Inherited Motor Neuropathy Gene Panel, Varies
Establishing a molecular diagnosis for patients with distal hereditary motor neuropathy (dHMN) Identifying variants within genes known to be associated with dHMN, allowing for predictive testing of at-risk family members
CMSP - Overview: Inherited Congenital Myasthenic Syndrome Gene Panel, Varies
Establishing a molecular diagnosis for patients with congenital myasthenic syndrome Identifying variants within genes known to be associated with congenital myasthenic syndrome, allowing for predictive testing of at-risk family members
HAD - Overview: Huntington Disease, Molecular Analysis, Varies
Molecular confirmation of clinically suspected cases of Huntington disease (HD) Presymptomatic testing for individuals with a family history of HD and a documented expansion in the HTT gene
HLHGP - Overview: Primary Hemophagocytic Lymphohistiocytosis Gene Panel, Varies
Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of familial hemophagocytic lymphohistiocytosis (F-HLH) Establishing a diagnosis of F-HLH, allowing for appropriate management and...
LPSC1 - Overview: Lipid Panel, Serum
Managing atherosclerotic cardiovascular disease risk using serum specimens
SFEC - Overview: Iron and Total Iron-Binding Capacity, Serum
Screening for chronic iron overload diseases, particularly hereditary hemochromatosis Screening for iron deficiency as the cause of anemia Monitoring treatment for iron deficiency anemia This test should not be used as the primary test...
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...
NICOU - Overview: Nicotine and Metabolites, Random, Urine
Monitoring tobacco use Monitoring patients on nicotine-replacement therapy for concurrent use of tobacco products
T4FT4 - Overview: T4 (Thyroxine), Total and Free, Serum
Assessing thyroid function when thyroid function disorders are suspected
ORTHP - Overview: Orthostatic Proteinuria, Random, Urine
Diagnosis of orthostatic proteinuria
MAGRU - Overview: Magnesium/Creatinine Ratio, Random, Urine
Assessing the cause of abnormal serum magnesium concentrations Determining whether nutritional magnesium loads are adequate Calculating urinary calcium oxalate and calcium phosphate supersaturation and assessing kidney stone risk.
FFTST - Overview: Testosterone, Free and Weakly Bound, With Total Testosterone, LC/MS-MS
Free and weakly bound testosterone (FWBT), also referred to as bioavailable testosterone, is thought to reflect an individual's biologically active, circulating testosterone. FWBT includes free testosterone and testosterone that is bound to...
12PU1 - Overview: Protein, Total, 12 Hour, Urine
Evaluation of renal disease Screening for monoclonal gammopathy Screening for postural (orthostatic) proteinuria In select clinical situations, collection of a 12-hour specimen may allow more rapid detection of proteinuria states (eg,...
RURC1 - Overview: Uric Acid/Creatinine Ratio, Random, Urine
Differentiation of acute uric acid nephropathy from other causes of acute kidney failure For patients who cannot collect a 24-hour specimen, typically small children, a uric acid to creatinine ratio can be used to approximate 24-hour...
TRIG1 - Overview: Triglycerides, Serum
Managing atherosclerotic cardiovascular disease risk
HSTNI - Overview: Troponin I, High Sensitivity, Plasma
Excluding the diagnosis of acute coronary syndromes Explaining troponin T elevations related to skeletal myopathy and/or assay interferences
OSM24 - Overview: Osmolality, 24 Hour, Urine
Assessing the concentrating and diluting ability of the kidney using a 24-hour urine collection
URCON - Overview: Urea, Random, Urine
Assessment of kidney failure (prerenal vs acute kidney injury)
DMDZ - Overview: DMD Gene, Full Gene Analysis, Varies
Establishing a molecular diagnosis for patients with Duchenne muscular dystrophy and Becker muscular dystrophy Identifying variants within DMD known to be associated with Duchenne muscular dystrophy or Becker muscular dystrophy, allowing...
G6PDZ - Overview: Glucose-6-Phosphate Dehydrogenase (G6PD) Full Gene Sequencing, Varies
Genetic test for individuals at high risk for glucose-6-phosphate dehydrogenase (G6PD) deficiency Aiding in the diagnosis of G6PD deficiency Determining G6PD deficiency status in individuals with inconclusive or unexpected phenotyping...
RPHOC - Overview: Phosphorus, Random, Urine
Evaluation of hypo- or hyperphosphatemic states Evaluation of patients with nephrolithiasis
COL7 - Overview: Anti-Collagen type VII, IgG Antibodies, Serum
Initial screening test in the diagnosis of epidermolysis bullosa acquisita and other immunobullous diseases mediated by collagen VII
UHSD2 - Overview: Hemosiderin, Random, Urine
Detecting hemosiderinuria, secondary to excess hemolysis, as in incompatible blood transfusions, severe acute hemolytic anemia, or hemochromatosis for external patients.
SKETC - Overview: Ketones, Urine
Screening for the presence of ketoacidosis
CLADP - Overview: Congenital Lactic Acidosis Panel, Varies
Follow up for abnormal biochemical results suggestive of congenital lactic acidosis Establishing a molecular diagnosis for patients with congenital lactic acidosis Identifying variants within genes known to be associated with congenital...
MITOP - Overview: Mitochondrial Full Genome Analysis, Next-Generation Sequencing (NGS), Varies
Diagnosis of the subset of mitochondrial diseases that result from variants in the mitochondrial genome A second-tier test for patients in whom previous targeted gene variant analyses for specific mitochondrial disease-related genes were...
DHCRZ - Overview: Smith Lemli Opitz Syndrome, DHCR7 Gene, Full Gene Analysis, Varies
Follow up for abnormal biochemical results suggestive of Smith-Lemli-Opitz syndrome Establishing a molecular diagnosis for patients with Smith-Lemli-Opitz syndrome Identifying alterations within DHCR7 allowing for predictive testing of...
SOD1Z - Overview: SOD1 Gene, Full Gene Analysis, Varies
Establishing a molecular diagnosis for patients with amyotrophic lateral sclerosis (ALS) Identifying variants within SOD1 known to be associated with ALS, allowing for predictive testing of at-risk family members
NTC3Z - Overview: NOTCH3 Gene, Full Gene Analysis, Varies
Establishing a molecular diagnosis in individuals with features of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and NOTCH3-related disorders Identifying disease-causing variants...
SMNCS - Overview: Spinal Muscular Atrophy Carrier Screening, Deletion/Duplication Analysis, Varies
General population carrier screening for spinal muscular atrophy (SMA) Carrier screening for reproductive partners of known SMA carriers Carrier screening for parents of a child with a known deletion of the survival motor neuron 1 gene...
CMAMA - Overview: Comprehensive Metabolic Panel, Serum
Routine health monitoring Patient monitoring while hospitalized for information regarding metabolism, including the current kidney status, electrolyte and acid/base balance, and blood glucose
VEDOL - Overview: Vedolizumab Quantitation with Reflex to Antibodies, Serum
Assessing the response to therapy with vedolizumab An aid to achieving desired trough serum concentration of vedolizumab
HVCOP - Overview: HIV-1 and HIV-2 Antigen and Antibody Routine Screen, Plasma
Screening for HIV-1 and HIV-2 infection in nonsymptomatic, nonpregnant individuals older than 2 years This test should not be used as a screening or confirmatory test for blood donor specimens.
Identifying MDM2 amplification Supporting the diagnosis of many neoplasms, including, but not limited to, well-differentiated liposarcoma, atypical lipomatous tumor, dedifferentiated liposarcoma, parosteal osteosarcoma and central...
MMPP - Overview: Mitochondrial Metabolites, Plasma
Monitoring patients with mitochondrial disorders, organic acidurias, and ketone body disorders
BMAMA - Overview: Basic Metabolic Panel, Serum
Routine health monitoring or patient monitoring while hospitalized for information regarding metabolism, including the current kidney status, electrolyte, and acid/base balance, and blood glucose
BUN - Overview: Blood Urea Nitrogen (BUN), Serum
Screening test for evaluation of kidney function
PGXQP - Overview: Focused Pharmacogenomics Panel, Varies
Preemptive or reactive genotyping of patients for pharmacogenomic purposes Providing an assessment for genes with strong drug-gene associations Assisting in the management of patients with complex medication regimens
RFAMA - Overview: Renal Function Panel, Serum
Aiding in diagnosis and management of conditions affecting kidney function General health screening Screening patients at risk of developing kidney disease Management of patients with known kidney disease
PTTP - Overview: Prothrombin Time, Plasma
Screening assay to detect deficiencies of one or more coagulation factors (factors I, II, V, VII, X) Screening assay to detect coagulation inhibition Monitoring intensity of oral anticoagulant therapy when combined with INR reporting
SLFA - Overview: Cryptococcus Antigen Screen with Titer, Serum
Aiding in the diagnosis of cryptococcosis This test should not be used as a test of cure or to guide treatment decisions. This test should not be used as a screening procedure for the general populations.
PTP - Overview: Porphyrins, Total, Plasma
Monitoring treatment of patients with porphyria cutanea tarda
PBNP1 - Overview: NT-Pro B-Type Natriuretic Peptide, Serum
Aiding in the diagnosis of congestive heart failure using serum specimens
AHUSD - Overview: Atypical Hemolytic Uremic Syndrome Complement Panel, Serum and Plasma
Detecting deficiencies in the alternative pathway that can cause atypical-hemolytic uremic syndrome, dense deposit disease, and C3 glomerulonephritis A second-tier test that aids in the differential diagnosis of thrombotic...
An aid in the diagnosis of alveolar soft-part sarcoma or renal cell carcinoma variant when used in conjunction with an anatomic pathology consultation
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 from acute myeloid leukemia (AML) Immunologic...
2INHE - Overview: Factor II Inhibitor Evaluation, Plasma
Detection and quantitation of inhibitor to factor II This test is not useful for the detection of a lupus-like circulating anticoagulant inhibitor, a nonspecific circulating anticoagulant, or other inhibitors that are not specific for...