Search Results
Test Catalog
LDALD - Overview: Lysosomal and Peroxisomal Disorders Newborn Screen, Blood Spot
First-tier newborn screen for the lysosomal disorders: Fabry, Gaucher, Krabbe, mucopolysaccharidosis I (MPS I) and II (MPS II), infantile neurovisceral or chronic visceral acid sphingomyelinase deficiency, and Pompe (glycogen storage...
Screening for cervical carcinoma or intraepithelial lesions and the presence or absence of high-risk human papillomavirus (HR-HPV) when screening women aged 30 to 65 years for possible cervical neoplasia Aiding in triaging women with...
Providing a genetic evaluation for patients with a personal or family history suggestive of hereditary hemorrhagic telangiectasia (HHT), cerebral cavernous malformation (CCM), capillary malformation-arteriovenous malformation syndrome...
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...
B2GMG - Overview: Beta-2 Glycoprotein 1 Antibodies, IgG and IgM, Serum
Evaluating patients with suspected antiphospholipid syndrome by identification of beta-2 glycoprotein 1 IgM and IgG antibodies First-line test when antiphospholipid syndrome is strongly suspected in conjunction with cardiolipin antibodies...
CJDE - Overview: Creutzfeldt-Jakob Disease Evaluation, Spinal Fluid
Assessment of Creutzfeldt-Jakob disease or other human prion disease in patients with rapidly progressive dementia
CMAP - Overview: Chromosomal Microarray, Prenatal, Amniotic Fluid/Chorionic Villus Sampling
Prenatal diagnosis of copy number changes (gains or losses) across the entire genome Determining the size, precise breakpoints, gene content, and any unappreciated complexity of abnormalities detected by other methods, such as conventional...
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
OLIGU - Overview: Oligosaccharide Screen, Random, Urine
Screening for selected oligosaccharidosis
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...
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...
NGSFX - Overview: Reanalysis of Acute Myeloid Leukemia 4- or 11- Gene Panels, Additional Genes
Comprehensive reanalysis of a larger set of genes/gene regions when a more targeted gene panel was previously performed in this laboratory Evaluation of known or suspected hematologic neoplasms, specifically of myeloid origin (eg, acute...
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...
CHIDB - Overview: Chimerism-Donor, Varies
Evaluating the donor cells prior to bone marrow transplant Determining the relative amounts of donor and recipient cells in a specimen An indicator of bone marrow transplant success
CHRGB - Overview: Chimerism-Recipient Germline (Pretransplant), Varies
Evaluating the recipient cells prior to bone marrow transplant
Aiding in the diagnosis of new cases of multiple myeloma or other plasma cell proliferative disorders using a fixed cell pellet derived from bone marrow Identifying prognostic markers based on the abnormalities found This test should...
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
SCCA - Overview: Squamous Cell Carcinoma Antigen, Serum
Aiding in the evaluation and monitoring of squamous cell carcinoma of the head and neck, lung, and cervix This test should not be used to screen for carcinoma or other disorders including those of the liver, lung, or skin.
TBNY - Overview: T, B and NK Lymphocyte Quantitation, New York, Blood
Only orderable by New York clients 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...
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...
HISGT - Overview: Histone Genes Mutation Analysis, Next-Generation Sequencing, Tumor
Identifying specific mutations within the H3-3A, H3-3B, H3C2, H3C3 and H3C14 genes that assist in tumor diagnosis/classification
ADPKP - Overview: Focused Autosomal Dominant Polycystic Kidney Disease Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of autosomal dominant polycystic kidney disease Establishing a diagnosis of autosomal dominant polycystic kidney disease
FINA - Overview: NAbFeron (IFNB-1) Neutralizing Antibody Test
Detection of antibodies to interferon-B-1
Detecting IDH1 R132 and IDH2 R140 and R172 mutations in acute myeloid leukemia patients at the time of diagnosis to guide targeted therapy Monitoring minimal residual disease during the clinical and therapeutic course
Evaluation of patients with an abnormal newborn screen showing elevations of glutarylcarnitine (C5-DC) using serum specimens Evaluation of patients with abnormal newborn screens showing elevations of C4- acylcarnitine to aid in the...
HCCDD - Overview: Hepatitis C Virus Antibody, Cadaveric or Hemolyzed Specimens, Symptomatic, Serum
Diagnosis of hepatitis C virus (HCV) infection in cadaveric or hemolyzed serum specimens from symptomatic patients with or without risk factors for HCV infection This test is not intended for screening blood, cell, or tissue donors. This...
GPSYP - Overview: Glucopsychosine, Plasma
Second-tier test when newborn screening results with reduced beta-glucosidase (GBA) activity are identified Diagnosis and monitoring of patients with Gaucher disease using plasma specimens Supporting a biochemical diagnosis of Gaucher...
Evaluation of patients with an abnormal newborn screen showing elevations of glutarylcarnitine (C5-DC) using plasma specimens Evaluation of patients with abnormal newborn screens showing elevations of C4- acylcarnitine to aid in the...
ML1HM - Overview: MLH1 Hypermethylation Analysis, Tumor
An adjunct to TMSI / Microsatellite Instability, Tumor and IHC / Mismatch Repair (MMR) Protein Immunohistochemistry Only, Tumor when colon or endometrial tumor demonstrates microsatellite instability (MSI-H) and loss of MLH1 protein...
PMMIL - Overview: Phosphomannomutase and Phosphomannose Isomerase, Leukocytes
Diagnosing congenital disorders of glycosylation Ia (phosphomannomutase-2 deficiency: PMM2-CDG) and Ib (phosphomannose isomerase deficiency: MPI-CDG) as measured in leukocytes Follow-up testing for patients with an abnormal type I CDG...
SZMON - Overview: Sezary Monitoring Flow Cytometry, Blood
Monitoring response to therapy in patients with previously diagnosed Sezary syndrome or mycosis fungoides
CALR - Overview: CALR Mutation Analysis, Myeloproliferative Neoplasm (MPN), Varies
Rapid and sensitive detection of insertion and deletion-type mutations in exon 9 of CALR Aiding in distinguishing between reactive thrombocytosis and leukocytosis versus a myeloproliferative neoplasm (MPN), especially essential...
ETV6F - Overview: ETV6 (12p13.2) Rearrangement, FISH, Tissue
Detection of ETV6 rearrangements irrespective of the ETV6 fusion partner gene Supporting the diagnosis of many neoplasms including, but not limited to, mammary analogue secretory carcinoma, secretory carcinoma of the breast, and infantile...
FGFR2 - Overview: FGFR2 (10q26.1) Rearrangement, FISH, Tissue
Providing prognostic information and guiding treatment for patients with cholangiocarcinomas and other tumor types including bladder, thyroid, oral cavity, and brain
GALCW - Overview: Galactocerebrosidase, Leukocytes
Diagnosis of Krabbe disease Follow-up testing for evaluation of an abnormal newborn screening result for Krabbe disease This test is not intended for carrier detection.
GPSYW - Overview: Glucopsychosine, Blood
Second-tier test when newborn screening results with reduced beta-glucosidase (GBA) activity are identified Diagnosis and monitoring of patients with Gaucher disease using whole blood specimens Supporting the biochemical diagnosis of...
PTOX - Overview: Toxoplasma gondii, Molecular Detection, PCR, Varies
Supporting the diagnosis of acute cerebral, ocular, disseminated, or congenital toxoplasmosis This test should not be used to screen healthy patients.
TBPZA - Overview: Susceptibility, Mycobacterium tuberculosis Complex, Pyrazinamide, Varies
Susceptibility testing of Mycobacterium tuberculosis complex isolates growing in pure culture against pyrazinamide This test is not useful for Mycobacterium bovis and Myocobacterium bovis bacille Calmette-Guerin (BCG) isolates as they are...
PEE - Overview: Porphyrins Evaluation, Whole Blood
Establishing a biochemical diagnosis of erythropoietic protoporphyria and X-linked dominant protoporphyria
HMU24 - Overview: Heavy Metals Screen, with Reflex, 24 Hour, Urine
Detecting arsenic, cadmium, mercury, and lead exposure and toxicity using 24-hour urine specimens
CFSMN - Overview: Cystic Fibrosis and Spinal Muscular Atrophy Carrier Screen Panel, Varies
Reproductive risk refinement via carrier screening for individuals in the general population for cystic fibrosis (CF) and spinal muscular atrophy (SMA). Reproductive risk refinement via carrier screening for individuals with a family...
BRTP - Overview: Rapid Hereditary Breast Cancer Treatment Decision Panel, Varies
Establishing a diagnosis of a hereditary breast cancer syndrome allowing for surgical and management decision making Determining therapeutic eligibility with poly (adenosine diphosphate-ribose) polymerase inhibitors based on certain gene...
STPCO - Overview: ThinPrep with Human Papillomavirus (HPV) Co-Test-Screen, Varies
Screening for cervical carcinoma or intraepithelial lesions and the presence or absence of high-risk human papillomavirus (HR-HPV) when screening women over the age of 30 for possible cervical neoplasia Detection of high-risk HPV genotypes...
A second-level test after lymphocyte proliferation to mitogens (specifically phytohemagglutinin) has been assessed Evaluating patients suspected of having impairment in cellular immunity Evaluation of T-cell function in patients with...
Diagnostic workup of patients with a high probability of BCR-ABL1-positive hematopoietic neoplasms, particularly acute lymphoblastic leukemia (B-lymphoblastic leukemia), to provide a pretreatment quantitative level of BCR-ABL1 mRNA...
BIOTS - Overview: Biotinidase, Serum
Preferred test for the diagnosis of biotinidase deficiency Follow-up testing for certain organic acidurias
BRG1 - Overview: BRG1 (SMARCA4) Immunostain, Technical Component Only
Diagnosing ovarian small cell carcinoma of hypercalcemic type (SCCOHT)
APIXA - Overview: Apixaban, Anti-Xa, Plasma
Measuring apixaban concentration in selected clinical situations (eg, renal insufficiency, assessment of compliance, periprocedural measurement of drug concentration, suspected overdose, advanced age, and extremes of body weight)
MANN - Overview: Alpha-Mannosidase, Leukocytes
Diagnosis of alpha-mannosidosis This test is not useful for establishing carrier status for alpha-mannosidosis.
Site Search
helps in diagnosis, treatment, and prognosis of ALS and MS - Insights
neurofilament light chain (Nfl) proteins in blood, clinicians can better diagnose devastating diseases like ALS and MS, help predict disease progression, and better assess efficacy of existing drugs and trial therapies...
Frontotemporal dementia and ALS - Insights
Learn more about how detection of amyotrophic lateral sclerosis and frontotemporal dementia paved the way for gene-targeted therapies for patients.
search - Mayo Clinic Laboratories
No pages were found containing "dengue". Suggestions: Make sure al...
1939: Lou Gehrig Comes to Mayo Clinic #ThrowbackThursday - Insights
June 1939, his name became associated with an illness called amyotrophic lateral sclerosis (ALS). Today, ALS is known as Lou Gehrig’s Disease....
Hereditary Alzheimer's disease and dementia - Insights
Learn about our genetic testing for Alzheimer’s disease, amyotrophic lateral sclerosis (ALS), frontotemporal dementia, and CADASIL....