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Test Catalog

VEDOL - Overview: Vedolizumab Quantitation with Reflex to Antibodies, Serum

Assessing the response to therapy with vedolizumab An aid to achieving desired trough serum concentration of vedolizumab

AGAS - Overview: Alpha-Galactosidase, Serum

Diagnosis of Fabry disease in male patients Preferred screening test (serum) for Fabry disease This test is not useful for patients undergoing a work up for a meat or meat-derived product allergy.

FACEC - Overview: Angiotensin Converting Enzyme, CSF

Support diagnosis of neurosarcoidosis. May be used to evaluate treatment response.

ESTF - Overview: Estrogens, Estrone (E1) and Estradiol (E2), Fractionated, Serum

Simultaneous high-sensitivity determination of serum estrone and estradiol levels Situations requiring either higher sensitivity estradiol measurement, estrone measurement, or both, including -As part of the diagnosis and workup of...

TALMF - Overview: T-Cell Acute Lymphoblastic Leukemia/Lymphoma (ALL), Specified FISH, Varies

Detecting recurrent common chromosome abnormalities associated with T-cell acute lymphoblastic leukemia/lymphoma (T-ALL) using client-specified probes An adjunct to conventional chromosome studies in patients with T-ALL Evaluating...

TALAF - Overview: T-Cell Acute Lymphoblastic Leukemia/Lymphoma (ALL), FISH, Adult, Varies

Detecting, at diagnosis, recurrent common chromosome abnormalities associated with T-cell acute lymphoblastic leukemia/lymphoma (T-ALL) in adult patients As an adjunct to conventional chromosome studies in patients with T-ALL Evaluating...

APOEG - Overview: Apolipoprotein E Genotyping, Blood

Determining the specific apolipoprotein E (APOE) genotypes in individuals with type III hyperlipoproteinemia Determining the specific APOE genotypes that may increase risk for amyloid related imaging abnormalities in individuals being...

BTWGS - Overview: Bacterial Typing, Whole Genome Sequencing, Varies

Aiding in the investigation of a potential outbreak by a single bacterial species May assist in identification of recurrent infection in an individual patient

HPRP - Overview: Helicobacter pylori with Clarithromycin Resistance Prediction, Molecular Detection, PCR, Tissue

Aiding in the diagnosis of Helicobacter pylori infection and prediction of clarithromycin resistance or susceptibility directly from gastric biopsies

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...

RAPAN - Overview: Rheumatoid Arthritis Panel, Serum

Evaluating patients suspected of having rheumatoid arthritis (RA) Differentiating RA from other inflammatory arthritis or connective tissue diseases Diagnosis and stratification of rheumatoid arthritis

RAVMP - Overview: Ravulizumab Monitoring Panel, Serum

Monitoring of complement blockage by ravulizumab Assessing the response to ravulizumab therapy Assessing the need for dose escalation Evaluating the potential for dose deescalation or discontinuation of therapy in remission...

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...

MCOCP - Overview: MayoComplete Ovarian, Fallopian Tube, and Peritoneal Cancer Panel, Next-Generation Sequencing, Tumor

Primarily for determining if patients will respond to targeted therapy Assessment of microsatellite instability for immunotherapy decisions

HIAA - Overview: 5-Hydroxyindoleacetic Acid, 24 Hour, Urine

Biochemical diagnosis and monitoring of intestinal carcinoid syndrome using 24-hour urine specimens

MCGST - Overview: MayoComplete Gastrointestinal Stromal Tumor (GIST) Panel, Next-Generation Sequencing, Tumor

Establishing diagnosis and identifying targeted therapies for patients with gastrointestinal stromal tumors Assessing microsatellite instability

CRDPU - Overview: Creatine Disorders Panel, Random, Urine

Evaluating patients with a clinical suspicion of arginine:glycine amidinotransferase deficiency, guanidinoacetate methyltransferase deficiency, and creatine transporter deficiency

MDS2 - Overview: Movement Disorder, Autoimmune/Paraneoplastic Evaluation, Serum

Evaluating patients with suspected paraneoplastic or other autoimmune movement disorders including patients with ataxia, brainstem encephalitis, chorea, dyskinesias, myoclonus, and parkinsonism using serum specimens

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...

INTAD - Overview: Adalimumab Panel, Interpretation

Interpretation of therapeutic drug monitoring of adalimumab concentration and antibody levels

ALPGP - Overview: Alport Syndrome Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of Alport syndrome Establishing a diagnosis of Alport syndrome

IETG - Overview: Interference Evaluation Heterophile, Thyroglobulin Tumor Marker, Serum

Evaluation of suspected interference from heterophile antibodies causing a falsely elevated thyroglobulin result

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...

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...

PTNZ - Overview: PTEN Hamartoma Tumor Syndrome, PTEN Full Gene Analysis, Varies

Evaluating patients with a personal or family history suggestive of PTEN hamartoma tumor syndrome (PHTS) Establishing a diagnosis of PHTS allowing for targeted cancer surveillance based on associated risks Identifying variants within...

PSY - Overview: Psychosine, Blood Spot

Aids in the biochemical detection of Krabbe disease and saposin A cofactor deficiency Second-tier testing or follow up testing after an abnormal newborn screening result in an infant for Krabbe disease This test is not capable of...

CAH21 - Overview: Congenital Adrenal Hyperplasia (CAH) Profile for 21-Hydroxylase Deficiency, Serum

Preferred screening test for congenital adrenal hyperplasia (CAH) caused by 21-hydroxylase deficiency Part of a battery of tests to evaluate women with hirsutism or infertility, which can result from adult-onset CAH

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...

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...

MCSMP - Overview: MayoComplete Sarcoma Mutation Panel, Next-Generation Sequencing, Tumor

Primarily for identifying mutations that help in the diagnosis of specific soft tissue and bone tumors (sarcoma) Secondarily for identifying mutations that have therapeutic or prognostic significance Assessing microsatellite instability...

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

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

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

META3 - Overview: Metanephrines with 3-Methoxytyramine, 24 Hour, Urine

A first- and second-tier screening test for the presumptive diagnosis of catecholamine-secreting pheochromocytomas and paragangliomas

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...

MCBPP - Overview: MayoComplete Bladder and Prostate Cancer Panel, Next-Generation Sequencing, Tumor

Primarily for determining if patients will respond to targeted therapy Assessment of microsatellite instability for immunotherapy decisions

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

MP8BS - Overview: Mucopolysaccharidoses, Eight-Enzyme Panel, Blood Spot

Supporting the biochemical diagnosis of mucopolysaccharidoses types II, IIIA, IIIB, IIIC, IVA, IVB, VI, and VII, and of multiple sulfatase deficiency This test is not useful for carrier detection.

MCECP - Overview: MayoComplete Endometrial Carcinoma Panel, Next-Generation Sequencing, Tumor

Primarily for determining if patients will respond to targeted therapy Assessment of microsatellite instability for immunotherapy decisions Molecular-based classification of endometrial carcinoma

MCGYN - Overview: MayoComplete Gynecological Cancer Panel, Next-Generation Sequencing, Tumor

Predicting patients' prognosis and response to targeted therapy Assessment of microsatellite instability for immunotherapy decisions

MCKCP - Overview: MayoComplete Kidney Cancer Panel, Next-Generation Sequencing, Tumor

Identifying specific mutations to assist in tumor diagnosis/classification Assisting in the clinical management of patients with renal cell carcinoma Assessment of microsatellite instability for immunotherapy decisions

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

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

ESR1T - Overview: ESR1 Mutation Analysis, Next-Generation Sequencing, Tumor

Assisting in the clinical management of patients with metastatic breast cancer by identifying tumors with evolving resistance to endocrine therapy Stratifying prognosis of metastatic breast cancer

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

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......

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...