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

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...

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...

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...

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...

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,...

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...

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...

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

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

MCLNM - Overview: MayoComplete Lung Cancer Mutations, Next-Generation Sequencing, Tumor

Diagnosis and management of patients with lung cancer Assessing microsatellite instability

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

GCRNA - Overview: Neisseria gonorrhoeae, Nucleic Acid Amplification, Varies

Detecting Neisseria gonorrhoeae This test is not intended for use in medico-legal applications.

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,...

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

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

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...

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...

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.

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...

MPSER - Overview: Mucopolysaccharides Quantitative, Serum

Quantification of dermatan sulfate, heparan sulfate, and keratan sulfate in serum to support the biochemical diagnosis of mucopolysaccharidoses types I, II, III, IV, VI, or VII

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...

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...

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...

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...

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,...

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...

NF1Z - Overview: Neurofibromatosis Type 1, NF1, Full Gene Analysis, Varies

Evaluating patients with a personal or family history suggestive of neurofibromatosis type 1 (NF1) Establishing a diagnosis of a NF1 allowing for targeted cancer surveillance based on associated risks Identifying genetic variants...

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,...

PMCAG - Overview: Postmortem Cardiomyopathy and Arrhythmia Gene Panel, Tissue

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

PNEFC - Overview: Neuroimmunology Antibody Follow-up, Spinal Fluid

Monitoring patients who have previously tested positive for 1 or more antibodies within the past 5 years in a Mayo Clinic Neuroimmunology Laboratory spinal fluid evaluation

HIVDX - Overview: HIV-1 and HIV-2 Antigen and Antibody Diagnostic Evaluation, Plasma

Detecting HIV-1 and HIV-2 infection in symptomatic patients older than 2 years Follow-up testing of symptomatic individuals with reactive rapid HIV test results This test should not be used as a screening or confirmatory test for blood...

HIESG - Overview: Hyper-IgE Syndrome Gene Panel, Varies

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of hyper-IgE syndrome (HIES) Establishing a diagnosis of HIES, allowing for appropriate management and surveillance for disease features...

HPANP - Overview: Hereditary Pancreatitis Gene Panel, Varies

Confirming a suspected clinical diagnosis of familial or hereditary pancreatitis in patients with chronic pancreatitis Identifying gene variants contributing to pancreatitis in an individual or family Identifying gene variants to allow...

HMU24 - Overview: Heavy Metals Screen, with Reflex, 24 Hour, Urine

Detecting arsenic, cadmium, mercury, and lead exposure and toxicity using 24-hour urine specimens

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...

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

JIP - Overview: Joint Infection Panel, PCR, Synovial Fluid

Rapid detection of synovial fluid infections caused by the following: Anaerococcus prevotii/vaginalis Finegoldia magna Streptococcus species Clostridium perfringens Parvimonas micra Streptococcus agalactiae Cutibacterium...

CDG - Overview: Carbohydrate Deficient Transferrin for Congenital Disorders of Glycosylation, Serum

Screening for congenital disorders of glycosylation This test is not useful for screening patients for chronic alcohol abuse.

HEXBZ - Overview: Sandhoff Disease, HEXB Gene, Full Gene Analysis, Varies

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

TTST - Overview: Testosterone, Total, Mass Spectrometry, Serum

Evaluating men with symptoms or signs of possible hypogonadism, such as loss of libido, erectile dysfunction, gynecomastia, osteoporosis, or infertility Evaluating boys with delayed or precocious puberty Monitoring testosterone...

HVPPS - Overview: HIV-1 and HIV-2 Antibody Confirmation and Differentiation Prenatal, Serum

Confirmation and differentiation of HIV-1 and HIV-2 antibodies in serum specimens from prenatal patients who show reactive results with 3rd- (HIV-1/-2 antibody only) and 4th-generation (HIV antigen and antibody) HIV serologic assays This...

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...

HIVDI - Overview: HIV-1 and HIV-2 Antibody Confirmation and Differentiation, Serum

Confirmation and differentiation of HIV-1 and HIV-2 antibodies in serum specimens that show reactive results with third-(HIV-1/-2 antibody only) and 4th-generation (HIV antigen and antibody) HIV serologic assays Confirmation and...

MMRV - Overview: Measles, Mumps, Rubella, and Varicella (MMRV) Immune Status Profile, Serum

Determining immune status of individuals to measles, mumps, rubella, and varicella-zoster viruses (VZV) Documentation of previous infection with measles, mumps, rubella, or VZV in an individual without a previous record of immunization to...

SMNDX - Overview: Spinal Muscular Atrophy Diagnostic Assay, Deletion/Duplication Analysis, Varies

First-tier newborn screening for spinal muscular atrophy (SMA) Prenatal testing for SMA Diagnostic testing to confirm a suspected diagnosis of SMA

LSDS - Overview: Lysosomal Disorders Screen, Random, Urine

Screening patients suspected of having a lysosomal disorder