Test Catalog Search Results
ADAMP - Overview: ADAMTS13 Activity with Reflex Inhibitor Profile, Plasma
Assisting with the diagnosis of immune or acquired thrombotic thrombocytopenic purpura
EGFRS - Overview: EGFR Gene, Targeted Mutation Analysis, 51 Mutation Panel, Tumor
Identifying non-small cell lung cancers that may respond to epidermal growth factor receptor-targeted therapies
Evaluating for chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) and related demyelinating peripheral neuropathies
UBKQN - Overview: BK Virus DNA Detection and Quantification, Random, Urine
Detection and serial monitoring of BK virus (BKV)-associated nephropathy in kidney transplant recipients using random urine specimens Detection and serial monitoring of BKV-associated hemorrhagic cystitis in organ transplant recipients
BGA - Overview: Beta-Galactosidase, Leukocytes
Aiding in the diagnosis of GM1 gangliosidosis, Morquio B disease, and galactosialidosis This test is not suitable for carrier detection.
EPOR - Overview: Erythropoietin Receptor (EPOR) Gene, Exon 8 Sequencing, Whole Blood
Assessing EPOR in the evaluation of an individual with JAK2-negative erythrocytosis associated with lifelong sustained increased red blood cell (RBC) mass, elevated RBC count, hemoglobin, or hematocrit
Assessing HIF2A/EPAS1 in the evaluation of an individual with JAK2-negative erythrocytosis associated with lifelong sustained increased red blood cell (RBC) mass, elevated RBC count, hemoglobin, or hematocrit
HYOX - Overview: Hyperoxaluria Panel, Random, Urine
Distinguishing between primary and secondary hyperoxaluria Distinguishing between primary hyperoxaluria types 1, 2, and 3
PHD2 - Overview: Prolyl Hydroxylase Domain-2 (PHD2/EGLN1) Gene Sequencing, Whole Blood
Assessing PHD2/EGLN1 in the evaluation of an individual with JAK2-negative erythrocytosis associated with lifelong sustained increased red blood cell (RBC) mass, elevated RBC count, hemoglobin, or hematocrit
PST - Overview: Protein S Antigen, Total, Plasma
Aiding in the investigation of patients with a history of thrombosis
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
TXMGP - Overview: Toxoplasma gondii Antibody, IgM and IgG, Serum
Determining whether a patient has had previous exposure to or recent infection with Toxoplasma gondii IgG is not useful for diagnosing infection in infants younger than 6 months of age. IgG antibodies in this age group usually are the...
Screening for infection with high-risk human papillomavirus (HPV) associated with the development of cervical cancer Individual genotyping of HPV-16 and/or HPV-18 if present This testing is intended for use in clinical monitoring and...
LSDGP - Overview: Lysosomal Storage Disease Gene Panel, Varies
Follow up for abnormal biochemical results and confirmation of suspected lysosomal storage disease (LSD) Establishing a molecular diagnosis for patients with LSD Identifying variants within genes known to be associated with LSD, allowing...
SNS - Overview: Supplemental Newborn Screen, Blood Spot
Presymptomatic identification of disorders to allow for early initiation of treatment and consequent improvement in the long-term prognosis of affected patients The conditions identifiable by amino acid and acylcarnitine analysis are...
TELDP - Overview: Telomere Biology Disorders Gene Panel, Varies
Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of a telomere biology disorder Establishing a diagnosis of a telomere biology disorder, allowing for appropriate management and...
ARSBB - Overview: Arylsulfatase B, Blood Spot
Supporting the biochemical diagnosis of mucopolysaccharidosis type VI (MPS VI, Maroteaux-Lamy syndrome) This test is not useful for carrier detection for MPS VI
2C19R - Overview: Cytochrome P450 2C19 Genotype, Varies
Identifying patients who may be at risk for altered metabolism of drugs that are modified by cytochrome P450 2C19 Predicting anticoagulation response to clopidogrel
2C9QT - Overview: Cytochrome P450 2C9 Genotype, Varies
Identifying individuals who may be at risk for altered metabolism of drugs that are modified by cytochrome P450 2C9
CPR - Overview: C-Peptide, Serum
Diagnostic workup of hypoglycemia: -Diagnosis of factitious hypoglycemia due to surreptitious administration of insulin -Evaluation of possible insulinoma -Surrogate measure for the absence or presence of physiological suppressibility of...
HIQNP - Overview: HIV-1 RNA Detection and Quantification, Prenatal, Plasma
Diagnosis of HIV-1 infection in pregnant individuals with acute or early HIV-1 infection Quantifying plasma HIV-1 RNA levels (viral load) in pregnant individuals living with HIV-1: -Before initiating anti-HIV-1 drug therapy (baseline viral...
MPS2Z - Overview: Hunter Syndrome, Full Gene Analysis, Varies
Confirmation of a diagnosis of mucopolysaccharidosis type II (Hunter syndrome) Carrier testing when there is a family history of mucopolysaccharidosis type II (Hunter syndrome), but disease-causing variants have not been previously...
FABRZ - Overview: Fabry Disease, Full Gene Analysis, Varies
Confirmation of a diagnosis of classic or variant Fabry disease in affected males with reduced alpha- galactosidase A enzyme activity Carrier or diagnostic testing for asymptomatic or symptomatic females, respectively
MCADZ - Overview: Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency Full Gene Analysis, Varies
Confirmation of diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency (as a follow-up to biochemical analyses) Screening of at-risk carriers of MCAD deficiency when an affected relative has not had molecular testing Diagnosis...
PD2T - Overview: Pompe Disease Second-Tier Newborn Screening, Blood Spot
Second-tier testing of newborns with an abnormal primary screening result for Pompe disease (decreased acid alpha-glucosidase enzyme activity) Follow-up testing for evaluation of an abnormal newborn screening result for Pompe disease
XHIM - Overview: X-Linked Hyper IgM Syndrome, Blood
Screening for X-linked hyper-IgM (XL-HIGM) or CD40L deficiency, primarily in male patients younger than 10 years Ascertaining XL-HIGM carrier status in women of child-bearing age (younger than 45 years)
C9ORF - Overview: C9orf72 Hexanucleotide Repeat, Molecular Analysis, Varies
Molecular confirmation of clinically suspected cases of c9FTD/ALS, frontotemporal dementia (FTD), or amyotrophic lateral sclerosis (ALS) Presymptomatic testing for individuals with a family history of c9FTD/ALS and a documented expansion...
BAMRP - Overview: Bile Acids Malabsorption Panel, Serum and Feces
Aiding in the evaluation of patients suspected of having chronic diarrhea symptoms due to bile acid malabsorption
CTSU - Overview: Ceramide Trihexosides and Sulfatides, Random, Urine
Identifying patients with Fabry disease Identifying patients with metachromatic leukodystrophy Identifying patients with saposin B deficiency Identifying patients with multiple sulfatase deficiency Identifying patients with...
CPAVP - Overview: Copeptin proAVP, Plasma
Investigating the differential diagnosis for patients with water balance disorders, including diabetes insipidus, in conjunction with osmolality and hydration status May aid in the evaluation of cardiovascular disease in conjunction with...
PSHIV - Overview: HIV-1 RNA Patient Source, Plasma
Detection and diagnosis of HIV-1 infection in an acutely or early infected individual (including infants of <2 years of age) who is the source of blood or body fluid in an occupational exposure event
IDHT - Overview: IDH1 and IDH2 Mutation Analyses, Next-Generation Sequencing, Tumor
Identifying specific mutations within the IDH1 and IDH2 genes that assist in tumor diagnosis/classification and predict response to targeted therapy
IDTRT - Overview: IDH1, IDH2, and TERT Mutation Analysis, Next-Generation Sequencing, Tumor
Identifying specific mutations within the IDH1 and IDH2 genes and the TERT promoter to assist in tumor diagnosis/classification
MCLNR - Overview: MayoComplete Lung Rearrangements, Rapid Test, Tumor
Identifying lung tumors that may respond to targeted therapies by simultaneously assessing multiple genes involved in rearrangements resulting in fusion transcripts Diagnosing and managing patients with lung cancer
Aiding in the distinction between the myeloproliferative neoplasm polycythemia vera and other secondary erythrocytosis
STER - Overview: Sterols, Plasma
Investigation of possible desmosterolosis (desmosterol reductase deficiency), cerebrotendinous xanthomatosis, lathosterolosis, sitosterolemia, sterol C4 methyl oxidase deficiency, MEND (male EBP disorder with neurologic defects) syndrome,...
CYPZ - Overview: 21-Hydroxylase Gene, CYP21A2, Full Gene Analysis, Varies
Carrier screening and diagnosis of 21-hydroxylase deficient congenital adrenal hyperplasia (CAH) in individuals with a personal or family history of 21-hydroxylase deficiency, or as follow-up to positive CAH newborn screens and/or...
EGFRW - Overview: EGFR Targeted Mutation Analysis with ALK Reflex, Tumor
Identifying non-small cell lung cancers that may benefit from treatment with epidermal growth factor receptor -targeted therapies or anaplastic lymphoma kinase inhibitors
CASRG - Overview: CASR Full Gene Sequencing with Deletion/Duplication, Varies
Providing a genetic evaluation of individuals with a personal or family history of familial hypocalciuric hypercalcemia, neonatal severe primary hyperparathyroidism, or autosomal dominant hypoparathyroidism (autosomal dominant...
HIVQN - Overview: HIV-1 RNA Detection and Quantification, Plasma
Quantifying plasma HIV-1 RNA levels (viral load) in individuals living with HIV-1: -Before initiating antiretroviral therapy to obtain baseline viral load -Who may have developed HIV-1 drug resistance while on antiretroviral therapy -Who...
KRABZ - Overview: Krabbe Disease, Full Gene Analysis and Large (30 kb) Deletion, Varies
Second-tier test for confirming a diagnosis of Krabbe disease Carrier testing for individuals with a family history of Krabbe disease in the absence of known sequence variants in the family
HFET - Overview: Hereditary Hemochromatosis, HFE Variant Analysis, Varies
Establishing or confirming the clinical diagnosis of hereditary hemochromatosis (HH) in adults Testing of individuals with increased serum transferrin-iron saturation and ferritin Predictive testing of individuals who have a family...
GAST - Overview: Gastrin, Serum
Investigation of patients with achlorhydria or pernicious anemia Investigation of patients suspected of having Zollinger-Ellison syndrome Diagnosis of gastrinoma
MBX - Overview: Muscle Pathology Consultation
Obtaining a rapid, expert opinion on muscle biopsy specimens for diagnosis of acquired or inherited muscle diseases Guiding treatment and genetic testing, as well as investigating relevance of genetic variants of unknown significance
MPNR - Overview: Myeloproliferative Neoplasm, JAK2 V617F with Reflex to CALR and MPL, Varies
Aiding in the distinction between a reactive cytosis and a chronic myeloproliferative disorder Evaluating for variants in JAK2, CALR, and MPL genes in an algorithmic process
FBAC - Overview: Bile Acids, Urine
Bile Acids, Urine
FIERA - Overview: IgE Receptor Antibody
The test detects functional autoantibodies to the Fc-epsilon receptor (high affinity IgE receptor) or to IgE and is useful in the evaluation of chronic urticaria.
FIBRO - Overview: FibroTest-ActiTest, Serum
Evaluating hepatic fibrosis in chronic hepatitis C patients Diagnosing fibrosis in carriers of chronic hepatitis B virus Evaluating hepatic fibrosis in co-infected HIV carriers Providing access to new-generation non-interferon...
DHRP - Overview: Dihydrorhodamine Flow Cytometric Phorbol Myristate Acetate Test, Blood
Evaluating chronic granulomatous disease (CGD), X-linked and autosomal recessive forms, complete myeloperoxidase deficiency Monitoring chimerism and nicotinamide adenine dinucleotide phosphate oxidase (NOX) function post-hematopoietic cell...
CRTS1 - Overview: Creatinine with Estimated Glomerular Filtration Rate (eGFR), Serum
Diagnosing and monitoring treatment of acute and chronic kidney diseases Adjusting dosage of renally excreted medications Monitoring kidney transplant recipients Estimating glomerular filtration rate for people with chronic kidney...