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

METRN - Overview: Metanephrines, Fractionated, Random, Urine

A second-order screening test for the presumptive diagnosis of pheochromocytoma in patients with non-episodic hypertension Confirming positive plasma metanephrine results in patients with non-episodic hypertension

FQPPS - Overview: Porphyrins, Feces

Evaluation of patients who present with signs or symptoms suggestive of porphyria cutanea tarda, hereditary coproporphyria, variegate porphyria, congenital erythropoietic porphyria, erythropoietic protoporphyria, or X-linked dominant...

21DOC - Overview: 21-Deoxycortisol, Serum

As an adjunct to measurement of 17-hydroxyprogesterone, androstenedione, and cortisol in the diagnosis of difficult cases of suspected 21-hydroxylase (CYP21A2) deficiency Identifying heterozygote CYP21A2 deficiency carriers As an adjunct...

AMYR - Overview: Beta-Amyloid Ratio (1-42/1-40), Spinal Fluid

Assisting in the evaluation of adult patients, aged 55 years and older, presenting with cognitive impairment and are being assessed for Alzheimer disease and other causes of cognitive decline This test is not intended as a screening or...

DRV3 - Overview: Dilute Russell's Viper Venom Time (DRVVT) Confirmation, Plasma

Confirming the presence or absence of lupus anticoagulants (LA) Identifying LA that do not prolong the activated partial thromboplastin time (APTT) Evaluating unexplained prolongation of the APTT or prothrombin time clotting tests...

CATP - Overview: Catecholamine Fractionation, Free, Plasma

Diagnosing pheochromocytoma and paraganglioma, as an auxiliary test to fractionated plasma and urine metanephrine measurements Diagnosis follow-up of patients with neuroblastoma and related tumors, as an auxiliary test to urine...

DHES1 - Overview: Dehydroepiandrosterone Sulfate, Serum

Diagnosis and differential diagnosis of hyperandrogenism (in conjunction with measurements of other sex steroids) An adjunct in the diagnosis of congenital adrenal hyperplasia Diagnosis and differential diagnosis of premature adrenarche

CATPA - Overview: Catecholamine, Endocrine Study, Plasma

Diagnosis of pheochromocytoma and paraganglioma in specimens collected from individuals in both supine and standing positions, as an auxiliary test to fractionated plasma and urine metanephrine measurements Diagnosis and follow-up of...

HMUCR - Overview: Heavy Metal/Creatinine Ratio, with Reflex, Random, Urine

Preferred screening test for detection of arsenic, cadmium, mercury, and lead in random urine specimens

HMUOE - Overview: Heavy Metal Occupational Exposure, with Reflex, Random, Urine

Preferred screening test for detection of arsenic, cadmium, mercury, and lead due to occupational exposure using random urine specimens

MCMLN - Overview: MayoComplete Melanoma Panel, Next-Generation Sequencing, Tumor

Determining if patients will respond to targeted therapy Assessing microsatellite instability for immunotherapy decisions

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...

MCCRC - Overview: MayoComplete Colorectal Cancer Panel, Next-Generation Sequencing, Tumor

Primarily for determining patient response to various targeted therapies/immunotherapy Predicting prognosis from microsatellite instability status

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...

MPCDS - Overview: mSMART, Plasma Cell Proliferative Disorder, FISH, Bone Marrow

Aiding in the diagnosis of new cases of multiple myeloma or other plasma cell proliferative disorders as a part of a profile Identifying prognostic markers based on the anomalies found

PMARG - Overview: Postmortem Arrhythmia Gene Panel, Tissue

Providing a comprehensive postmortem genetic evaluation in the setting of a sudden death suspicious for cardiac arrhythmia or with a personal or family history suggestive of a hereditary form of cardiac arrhythmia Identifying a...

PKLRZ - Overview: PKLR Full Gene Analysis, Varies

Aiding in the diagnosis of pyruvate kinase (PK) deficiency Ascertaining a causative variant in the PKLR gene of patients with low or relatively low levels of erythrocytic PK enzymatic activity Ascertaining carrier status of family members...

PGDBS - Overview: Plasmalogens, Blood Spot

Diagnosing patients with possible peroxisomal disorders, such as peroxisomal biogenesis disorders (Zellweger syndrome spectrum) and rhizomelic chondrodysplasia punctata (RCDP), including fatty acyl-CoA reductase 1 (FAR1)...

TTGG - Overview: Tissue Transglutaminase Antibody, IgG, Serum

Individuals with IgA deficiency 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...

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,...

TTGA - Overview: Tissue Transglutaminase Antibody, IgA, Serum

Assessment of tissue transglutaminase IgA antibodies for evaluating patients suspected of having celiac disease, including patients with compatible clinical symptoms, patients with atypical symptoms, and individuals at increased risk...

AAPD - Overview: Amino Acids, Quantitative, Random, Urine

Evaluating patients with possible inborn errors of metabolism using random urine specimens May aid in evaluation of endocrine disorders, liver diseases, muscle diseases, neoplastic diseases, neurological disorders, nutritional...

AACSF - Overview: Amino Acids, Quantitative, Spinal Fluid

Evaluating patients with possible inborn errors of amino acid metabolism, particularly nonketotic hyperglycinemia (glycine encephalopathy) and serine biosynthesis defects, especially when used in conjunction with concomitantly collected...

CD20B - Overview: CD20 on B Cells, Blood

Evaluation of patients with a suspected CD19 deficiency (humoral immunodeficiency) Confirming complete absence of B cells in suspected primary humoral immunodeficiencies using both CD19 and CD20 markers Assessing therapeutic B-cell...

CTP10 - Overview: Catecholamine Fractionation, Standing, Plasma, Free

Diagnosis of pheochromocytoma and paraganglioma in specimens collected from individuals in a standing position, as an auxiliary test to fractionated plasma and urine metanephrine measurements Diagnosis and follow-up of patients with...

CTP0 - Overview: Catecholamine Fractionation, Supine, Plasma, Free

Diagnosis of pheochromocytoma and paraganglioma in specimens collected from individuals in a supine position, as an auxiliary test to fractionated plasma and urine metanephrine measurements Diagnosis and follow-up of patients with...

CFMP - Overview: Cystic Fibrosis, CFTR Gene, Variant Panel, Varies

Confirmation of a clinical diagnosis of cystic fibrosis Reproductive risk refinement via carrier screening for individuals in the general population Reproductive risk refinement via carrier screening for individuals with a family history...

PQNRU - Overview: Porphyrins, Quantitative, Random, Urine

Preferred test to begin assessment for congenital erythropoietic porphyria and porphyria cutanea tarda and during symptomatic periods for acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria when specimen...

17PRN - Overview: Pregnenolone and 17-Hydroxypregnenolone, Serum

An ancillary test for congenital adrenal hyperplasia (CAH), particularly in situations in which a diagnosis of both 21- and 11-hydroxylase deficiency have been ruled out Confirming a diagnosis of 3-beta-hydroxysteroid dehydrogenase...

PVJAK - Overview: Polycythemia Vera, JAK2 V617F with Reflex to JAK2 Exon 12-15, Sequencing for Erythrocytosis, Varies

Aiding in the distinction between the myeloproliferative neoplasm polycythemia vera and other secondary erythrocytosis

AAQP - Overview: Amino Acids, Quantitative, Plasma

Evaluating patients with possible inborn errors of metabolism using plasma specimens May aid in evaluation of endocrine disorders, liver diseases, muscle diseases, neoplastic diseases, neurological disorders, nutritional disturbances,...

MAFP1 - Overview: Alpha-Fetoprotein (AFP), Single Marker Screen, Maternal, Serum

Prenatal screening for open neural tube defect

BHDZ - Overview: Birt-Hogg-Dube Syndrome, FLCN, Full Gene Analysis, Varies

Evaluating patients with a personal or family history suggestive of Birt-Hogg-Dube (BHD) syndrome Establishing a diagnosis of BHD syndrome allowing for targeted cancer surveillance based on associated risks Identifying variants within...

BAP1Z - Overview: BAP1-Tumor Predisposition Syndrome, BAP1 Full Gene Analysis, Varies

Evaluating patients with a personal or family history suggestive of BAP1-tumor predisposition syndrome (BAP1-TPDS) Establishing a diagnosis of BAP1-TPDS allowing for targeted cancer surveillance based on associated risks Identifying...

EDSGG - Overview: Ehlers-Danlos Syndrome Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of Ehlers-Danlos syndrome and related conditions Establishing a diagnosis for Ehlers-Danlos syndrome, X-linked occipital horn syndrome, X-linked...

GBAZ - Overview: Gaucher Disease, Full Gene Analysis, Varies

Confirmation of a diagnosis of Gaucher disease Carrier screening in cases where there is a family history of Gaucher disease, but an affected individual is not available for testing or disease-causing alterations have not been identified

WILMP - Overview: Hereditary Wilms Tumor Panel, Varies

Evaluating isolated and syndromic causes of Wilms tumor Establishing a diagnosis to guide management for individuals with Wilms tumor Identifying a familial variant allowing for predictive testing and appropriate screening of at-risk...

CDHZ - Overview: Hereditary Diffuse Gastric Cancer Syndrome, CDH1, Full Gene Analysis, Varies

Evaluating patients with a personal or family history suggestive of hereditary diffuse gastric cancer (HDGC) syndrome Establishing a diagnosis of HDGC syndrome allowing for targeted cancer surveillance based on associated risks...

PCPDS - Overview: Plasma Cell Proliferative Disorder, High Risk with Reflex Probes, Diagnostic FISH Evaluation, Bone Marrow

Aiding in the diagnosis of new cases of multiple myeloma or other plasma cell proliferative disorders using bone marrow specimens Identifying prognostic markers based on the abnormalities found This test should not be used to track the...

STK1Z - Overview: Peutz-Jeghers Syndrome, STK11, Full Gene Analysis, Varies

Evaluating patients with a personal or family history suggestive of Peutz-Jeghers syndrome (PJS) Establishing a diagnosis of PJS allowing for targeted cancer surveillance based on associated risks Identifying variants within genes known...

PQNU - Overview: Porphyrins, Quantitative, 24 Hour, Urine

Preferred screening test for congenital erythropoietic porphyria and porphyria cutanea tarda and during symptomatic periods for acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria when specimen transport will be...

PUPYU - Overview: Purines and Pyrimidines Panel, Random, Urine

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

SYPH1 - Overview: Syphilis IgG with Reflex, Enzyme Immunoassay, Serum

Aid for the diagnosis of infection with Treponema pallidum using an algorithmic approach Routine prenatal screening This test is not offered as a screening or confirmatory test for blood donor specimens. This test is not useful for...

ENC2 - Overview: Encephalopathy, Autoimmune/Paraneoplastic Evaluation, Spinal Fluid

Evaluating new onset encephalopathy (noninfectious or metabolic) comprising confusional states, psychosis, delirium, memory loss, hallucinations, movement disorders, sensory or motor complaints, seizures, dyssomnias, ataxias, nausea,...

ENS2 - Overview: Encephalopathy, Autoimmune/Paraneoplastic Evaluation, Serum

Evaluating, using serum specimens, new onset encephalopathy (noninfectious or metabolic) comprising confusional states, psychosis, delirium, memory loss, hallucinations, movement disorders, sensory or motor complaints, seizures, dyssomnias,...

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

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...

CTRNA - Overview: Chlamydia trachomatis, Nucleic Acid Amplification, Varies

Detecting Chlamydia trachomatis This test is not intended for use in medico-legal applications. This test is not useful for the detection of other Chlamydia species.

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