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Test Catalog
ARSU - Overview: Arylsulfatase A, 24 Hour, Urine
Detection of arylsulfatase A deficiency using urine specimens This test is not suitable for carrier detection.
CLLMF - Overview: Chronic Lymphocytic Leukemia, Specified FISH, Varies
Detecting recurrent common chromosome abnormalities in patients with chronic lymphocytic leukemia (CLL) Distinguishing patients with 11;14 translocations who have the leukemic phase of mantle cell lymphoma from patients who have CLL...
CMAMT - Overview: Chromosomal Microarray, Autopsy/Products of Conception/Stillbirth, Tissue
Diagnosis of congenital copy number changes in products of conception, including aneuploidy (ie, trisomy or monosomy) and structural abnormalities Diagnosing chromosomal causes for fetal death Determining recurrence risk of future...
HBC - Overview: Hepatitis B Virus Core Total Antibodies, Serum
Diagnosis of recent or past hepatitis B Determination of occult hepatitis B in otherwise healthy hepatitis B virus carriers with negative test results for hepatitis B surface (HBs) antigen, anti-HBs, anti-HB core IgM, hepatitis Be (HBe)...
HBAB - Overview: Hepatitis B Virus Surface Antibody, Qualitative/Quantitative, Serum
Identifying previous exposure to hepatitis B virus Determining adequate immunity from hepatitis B vaccination
GAL1P - Overview: Galactose-1-Phosphate, Erythrocytes
Monitoring dietary therapy of patients with galactosemia due to deficiency of galactose-1-phosphate uridyltransferase or uridine diphosphate galactose-4-epimerase
HBCSN - Overview: Hepatitis B Virus Core Total Antibodies Screen, Serum
Diagnosis of recent or past hepatitis B Determination of occult hepatitis B in otherwise healthy hepatitis B virus carriers with negative test results for hepatitis B surface (HBs) antigen, anti-HBs, anti-hepatitis B core IgM, hepatitis...
HBBSN - Overview: Hepatitis B Virus Surface Antibody Screen, Qualitative/Quantitative, Serum
Identifying previous exposure to hepatitis B virus
GAES - Overview: Ganglioside Antibodies Evaluation, Serum
Supporting the diagnosis of an autoimmune neuropathy
HSVPV - Overview: Herpes Simplex Virus (HSV), Molecular Detection, PCR, Varies
Aiding in the rapid diagnosis of herpes simplex virus (HSV) infections, including qualitative detection of HSV DNA in nonblood clinical specimens This test should not be used to screen asymptomatic patients.
HBCPR - Overview: Hepatitis B Virus Core Total Antibodies Prenatal, Serum
Diagnosis of recent or past hepatitis B in pregnant individuals Determination of occult hepatitis B in otherwise healthy hepatitis B virus carriers with negative test results for hepatitis B surface (HBs) antigen, anti-HBs, anti-hepatitis...
Evaluation of patients with an abnormal newborn screen showing elevations of glutarylcarnitine (C5-DC) using dried blood spot specimens Evaluation of patients with abnormal newborn screens showing elevations of C4-acylcarnitine to aid in...
Detecting Mycoplasma genitalium in cases of suspected infection This test is not intended for use in medico-legal applications.
BRMLH - Overview: MLH1 Hypermethylation and BRAF Mutation Analysis, Tumor
An adjunct to MSI / Microsatellite Instability (MSI), Tumor and IHC / Mismatch Repair (MMR) Protein Immunohistochemistry Only, Tumor testing, when colon tumor demonstrates microsatellite instability (MSI-H) and loss of MLH1 protein...
ACLIP - Overview: Phospholipid (Cardiolipin) Antibodies, IgA, Serum
May be of diagnostic significance for patients at risk for antiphospholipid syndrome or systemic lupus erythematosus who test negative for criterial antiphospholipid antibodies
PMPDD - Overview: PMP22 Gene, Large Deletion/Duplication Analysis, Varies
Diagnosis of Charcot-Marie-Tooth type 1A or hereditary neuropathy with liability to pressure palsies
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
RPDEI - Overview: Rapidly Progressive Dementia Evaluation Interpretation, Spinal Fluid
Interpretation of the Rapidly Progressive Dementia Evaluation
POLET - Overview: POLE Mutation Analysis, Next-Generation Sequencing, Tumor
Identifying specific mutations within the POLE gene to assist in tumor diagnosis/classification
TPPA - Overview: Syphilis Antibody, Treponema pallidum Particle Agglutination, Serum
An aid to resolve discrepant results between screening treponemal and non-treponemal assays This test is not recommended for general screening purposes for syphilis. This test should not be used to evaluate response to therapy. This test...
FGF1F - Overview: FGFR1 (8p11.2) Amplification, FISH, Tissue
Providing prognostic information and guiding treatment primarily for patients with squamous cell carcinoma of the lung, breast, esophagus, thymus, and other locations
XL2T - Overview: FOXL2 Mutation Analysis, Next-Generation Sequencing, Tumor
Assisting in the clinical diagnosis of adult granulosa cell tumor by assessing gene targets with in the FOXL2 gene
GCTF - Overview: Germ Cell Tumor (GCT), Isochromosome 12p, FISH, Tissue
Supporting the diagnosis of germ cell tumors when used conjunction with an anatomic pathology consultation
METAF - Overview: Metanephrines, Fractionated, 24 Hour, Urine
A first- and second-order screening test for the presumptive diagnosis of catecholamine-secreting pheochromocytomas and paragangliomas Confirming positive plasma metanephrine results
ROS1F - Overview: Lung Cancer, ROS1 (6q22) Rearrangement, FISH, Tissue
Fluorescence in situ hybridization (FISH) testing for ROS1 allows for the detection of most ROS1 rearrangements, therefore, is useful for identifying tumors that may be sensitive to directed therapy ROS1 FISH testing may also support the...
LCAF - Overview: Lung Cancer, ALK (2p23) Rearrangement, FISH, Tissue
Identifying patients with non-small cell lung carcinoma who may benefit from treatment with directed tyrosine kinase inhibitors
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
ROGM - Overview: Measles (Rubeola) Virus Antibody, IgM and IgG, Serum
Diagnosing measles virus infection Determination of immune status of individuals to the measles virus using IgG antibody testing Documentation of previous infection with measles virus in an individual without a previous record of...
TLPMF - Overview: T-Cell Lymphoma, Specified FISH, Varies
Detecting, at diagnosis, common chromosome abnormalities associated with specific T-cell lymphoma subtypes using client specified probes
TP53 - Overview: TP53 Mutation Analysis, Next-Generation Sequencing, Tumor
Assisting in the clinical management of patients with cancer This test is not intended for the evaluation of patients suspected of having an inherited or germline TP53 cancer syndrome (eg, Li Fraumeni syndrome).
SER - Overview: Serotonin, Serum
In conjunction with, or as an alternative to, first-order tests in the differential diagnosis of isolated symptoms suggestive of carcinoid syndrome, in particular flushing (5-hydroxyindoleacetic acid or serum chromogranin A measurements are...
OHPG - Overview: 17-Hydroxyprogesterone, Serum
Screening test for congenital adrenal hyperplasia (CAH), caused by either 11- or 21-hydroxylase deficiency, when used in combination with testing for cortisol and androstenedione As part of a battery of tests to evaluate women with...
ALKT - Overview: ALK Mutation Analysis, Next-Generation Sequencing, Tumor
Identifying mutations within the ALK gene that predict resistance to ALK-inhibitors
PTH2 - Overview: Parathyroid Hormone, Serum
Diagnosis and differential diagnosis of hypercalcemia Diagnosis of primary, secondary, and tertiary hyperparathyroidism Diagnosis of hypoparathyroidism Monitoring kidney failure patients for possible renal osteodystrophy
MP9W - Overview: Mucopolysaccharidoses, Nine-Enzyme Panel, Leukocytes
Supporting the biochemical diagnosis of mucopolysaccharidoses types II, IIIA, IIIB, IIIC, IIID, IVA, IVB, VI, and VII, and of multiple sulfatase deficiency This test is not useful for carrier detection.
ENAE - Overview: Antibody to Extractable Nuclear Antigen Evaluation, Serum
Evaluating patients with clinical features suggestive of antinuclear antibody (ANA) associated connective tissue disease. May also be indicated in patients who test negative for ANA and have features of Sjogren syndrome and idiopathic...
DPYDZ - Overview: Dihydropyrimidine Dehydrogenase, DPYD Full Gene Sequencing, Varies
Identifying individuals at increased risk of toxicity when considering 5-fluorouracil and capecitabine chemotherapy treatment Identifying common and rare variants associated with decreased or absent dihydropyrimidine dehydrogenase (DPD)...
BTK - Overview: Bruton Tyrosine Kinase, Protein Expression, Flow Cytometry, Blood
Preliminary screening for X-linked agammaglobulinemia, primarily in male patients (<65 years) or female carriers (child-bearing age: <45 years)
BRCAT - Overview: BRCA1/2 Mutation Analysis, Next-Generation Sequencing, Tumor
Identifying specific mutations within the BRCA1 and BRCA2 genes known to be associated with response to PARP (poly [ADP-ribose] polymerase) inhibitors and sensitivity to platinum-based therapy This test is not intended for the evaluation...
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
An aid in the diagnosis of alveolar soft-part sarcoma or renal cell carcinoma variant when used in conjunction with an anatomic pathology consultation
Predicting macrolide susceptibility in Mycoplasma (Mycoplasmoides) pneumoniae
AGAW - Overview: Alpha-Galactosidase, Leukocytes
Diagnosis of Fabry disease in male patients Verifying abnormal serum alpha-galactosidase results in male patients with a clinical presentation suggestive of Fabry disease This test is not useful for patients undergoing a work-up for a...
FAPM - Overview: Fatty Acid Profile, Mitochondrial (C8-C18), Serum
Biochemical diagnosis of inborn errors of mitochondrial fatty acid oxidation, including deficiencies of medium-chain acyl-Co-A dehydrogenase, long-chain 3-hydroxyacyl-Co-A dehydrogenase, very long-chain acyl-Co-A dehydrogenase, and glutaric...
NR4A3 - Overview: NR4A3 (9q22.33) Rearrangement, FISH, Tissue
Identifying NR4A3 gene rearrangements Supporting the diagnosis of extraskeletal myxoid chondrosarcoma or acinic cell carcinoma when used in conjunction with an anatomic pathology consultation
GB2GP - Overview: Beta-2 Glycoprotein 1 Antibodies, IgG, Serum
Evaluating patients with suspected antiphospholipid syndrome by identification of beta-2 glycoprotein 1 IgG antibodies First-line test when antiphospholipid syndrome is strongly suspected, in conjunction with cardiolipin antibodies (IgG...
MB2GP - Overview: Beta-2 Glycoprotein 1 Antibodies, IgM, Serum
Evaluating patients with suspected antiphospholipid syndrome by identification of beta-2 glycoprotein 1 IgM antibodies First-line test when antiphospholipid syndrome is strongly suspected in conjunction with cardiolipin antibodies (IgG...
ALDG2 - Overview: Autoimmune Liver Disease Panel, Serum
Evaluating patients with suspected autoimmune liver disease, specifically autoimmune hepatitis or primary biliary cholangitis Evaluating patients with liver disease of unknown etiology
ACARP - Overview: Acanthamoeba species Molecular Detection, PCR, Ocular
Aids in the diagnosis of amebic keratitis in conjunction with clinical findings
ARSAB - Overview: Arylsulfatase A, Blood Spot
Second-tier newborn screening test for metachromatic leukodystrophy (MLD) when sulfatides are elevated Enzymatic test for detection of arylsulfatase A deficiency This test is not suitable for carrier detection.
Site Search
vitamin_b12_deficiency_evaluation.pdf
Research (MFMER). All rights reserved. 03/2022 Vitamin B12 Deficiency Evaluation <150 ng/L>400 ng/L 150-400 ng/L ≤0.4 nmol/mL >0.4 nmol/mL INDETERMINATE ACASM / Pernicious Anemia Cascade, Serum Testing...
mdazl-rhode-island-certification.pdf
0 Q £ IS l -t1 .,. ... ';.� +"'" ¾liNT 0� State of Rhode Island DEPARTMENT OF HEALTH Center for Health Facilities Regulation This is to certify that MAYO CLINIC MOLECULAR...
newborn_screen_follow-up_for_mucopolysaccharidosis_type_i.pdf
rights reserved. 03/2024 Newborn screen result: decreased alpha-L-iduronidase (IDUA) Order 1 from each of the following groups: ■ IDUAW / Alpha-L-Iduronidase, Leukocytes AND ■ MPSBS / Mucop......
Algorithms - Mayo Clinic Laboratories
F G H I J K L M ...
lysosomal_storage_disorders_diagnostic_algorithm__part_1.pdf
Order: IDUAW / Alpha-L-Iduronidase, Leukocytes Order 1 of the following: ■ BGA / Beta-Galactosidase, Leukocytes ■ MPS4B ■ MPS4W Order: FUCW / Alpha-Fucosidase, Leukocytes Order 1 of the following: MPS4W...