CELI - Overview: Celiac Associated HLA-DQ Alpha 1 and DQ Beta 1 DNA Typing, Blood

Assessing risk of celiac disease

MPS3B - Overview: Mucopolysaccharidosis III, Three-Enzyme Panel, Blood Spot

Supporting the biochemical diagnosis of mucopolysaccharidoses types IIIA, IIIB, IIIC This test is not useful for carrier detection.

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

TGMS - Overview: Thyroglobulin Mass Spectrometry, Serum

Accurate measurement of serum thyroglobulin (Tg) in patients with known or suspected antithyroglobulin autoantibodies (TgAb) or heterophile antibodies (HAb) Reflex testing of samples with previously unknown TgAb status that prove TgAb...

SCAP - Overview: Spinocerebellar Ataxia Repeat Expansion Panel, Varies

Molecular confirmation of clinically suspected spinocerebellar ataxia when a specific subtype isn't suspected

SAU - Overview: Sialic Acid, Free and Total, Random, Urine

Screening for sialic acid disorders

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...

ALKT - Overview: ALK Mutation Analysis, Next-Generation Sequencing, Tumor

Identifying mutations within the ALK gene that predict resistance to ALK-inhibitors

XALDZ - Overview: X-Linked Adrenoleukodystrophy, Full Gene Analysis, Varies

Confirming a diagnosis of X-linked adrenoleukodystrophy Identifying a variant in the ABCD1 gene

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.

COMTQ - Overview: Catechol-O-Methyltransferase (COMT) Genotype, Varies

Prediction of response to nicotine replacement therapy for smoking cessation Investigation of inhibitor dosing for decreasing levodopa metabolism Research use for assessing estrogen metabolism

BRFKT - Overview: BRAF and KIT Mutation Analysis, Next-Generation Sequencing, Tumor

Identifying specific mutations within the BRAF and KIT genes that predict response to therapy

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

TFE3F - Overview: Alveolar Soft Part Sarcoma (ASPS)/Renal Cell Carcinoma (RCC), Xp11.23 (TFE3), FISH, Tissue

An aid in the diagnosis of alveolar soft-part sarcoma or renal cell carcinoma variant when used in conjunction with an anatomic pathology consultation

IGGS - Overview: IgG Subclasses, Serum

Second-order testing for evaluation of patients with clinical signs and symptoms of humoral immunodeficiency or combined immunodeficiency (cellular and humoral)

APGAL - Overview: Galactose-Alpha-1,3-Galactose (Alpha-Gal) Mammalian Meat Allergy Profile, Serum

As an aid in diagnosis of an IgE mediated hypersensitivity allergy to non-primate mammalian red meat, such as beef, pork, venison, and meat-derived products, such as gelatin, via allergen profile testing This test is not useful in...

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

FHOBG - Overview: Venom Honey Bee IgG

Venom Honey Bee IgG

F68KD - Overview: 68kD (hsp-70) antibodies by Line Blot

68kD (hsp-70) antibodies by Line Blot

FWFHG - Overview: Venom W-F Hornet IgG

Venom W-F Hornet IgG

NMITO - Overview: Nuclear Mitochondrial Gene Panel, Next-Generation Sequencing, Varies

Diagnosing the subset of mitochondrial disease that results from variants in the nuclear-encoded genes A second-tier test for patients in whom previous targeted gene variant analyses for specific mitochondrial disease-related genes were...

GNF13 - Overview: Factor XIII Deficiency, F13A1 and F13B Genes, Next-Generation Sequencing, Varies

Evaluating factor XIII deficiency (FXIIID) in patients with a personal or family history suggestive of FXIIID Confirming an FXIIID diagnosis with the identification of known or suspected disease-causing alterations in the F13A1 or F13B...

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

LCMS - Overview: Leukemia/Lymphoma Immunophenotyping, Flow Cytometry, Varies

Evaluating lymphocytoses of undetermined etiology Identifying B- and T-cell lymphoproliferative disorders involving blood and bone marrow Distinguishing acute lymphoblastic leukemia (ALL) from acute myeloid leukemia (AML) Immunologic...

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

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...

TCD4 - Overview: CD4 Count for Immune Monitoring, Blood

Serial monitoring of CD4 T cell count in patients who are HIV-positive Follow-up and diagnostic evaluation of primary cellular immunodeficiencies, including severe combined immunodeficiency T-cell immune monitoring following...

CHRCV - Overview: Chromosome Analysis, Chorionic Villus Sampling

Prenatal diagnosis of chromosome abnormalities, including aneuploidy (ie, trisomy or monosomy) and balanced rearrangements This test is not appropriate as a first-tier test for detecting gains or losses of chromosomal material in...

PSF - Overview: Protein S Antigen, Free, Plasma

As part of an investigation of patients with a history of thrombosis

RBCS - Overview: Relative B-Cell Subset Analysis Percentage, Blood

Screening for humoral or combined immunodeficiencies, including common variable immunodeficiency, hyper IgM syndrome, among others, where B-cell subset distribution information is desired Assessing B-cell subset reconstitution after...

DRV2 - Overview: Dilute Russell's Viper Venom Time (DRVVT) Mix, Plasma

Detecting the presence or helping to exclude the presence 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...

DRVI3 - Overview: Dilute Russell's Viper Venom Time (DRVVT) Confirmation Ratio, Plasma

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

DRVI2 - Overview: Dilute Russell's Viper Venom Time (DRVVT) Mix Ratio, Plasma

Detecting the presence or helping to exclude the presence of lupus anticoagulants (LA) Identifying LA that do not prolong the activated partial thromboplastin time (APTT) Evaluating unexplained prolongation of the APTT or prothrombin...

LNBAI - Overview: Lyme Central Nervous System Infection IgG, Antibody Index, Spinal Fluid

Providing antibody index information to aid in the diagnosis of neuroinvasive Lyme disease or neuroborreliosis due to Borrelia species associated with Lyme disease (eg, Borrelia burgdorferi, Borrelia garinii, Borrelia afzelli)

LCMAL - Overview: Malaria, Molecular Detection, PCR, Varies

Detection of Plasmodium DNA and identification of the infecting species An adjunct to conventional microscopy of Giemsa-stained films, particularly in cases of low percent parasitemia or suboptimal parasite morphology Detection and...

MPS4B - Overview: Mucopolysaccharidosis IV Enzyme Panel, Blood Spot

Supporting the biochemical diagnosis of mucopolysaccharidosis type IVA and IVB This test is not useful for carrier detection.

MLH1 - Overview: MLH1 Immunostain, Technical Component Only

Evaluation of tumor tissue to identify patients at high risk for having hereditary nonpolyposis colorectal cancer, also known as Lynch syndrome Evaluation of tumor tissue to identify patients at risk for having hereditary endometrial...

TAB - Overview: Thyroid Autoantibodies Profile, Serum

As an adjunct in the diagnosis of autoimmune thyroid diseases: Hashimoto disease, postpartum thyroiditis, neonatal hypothyroidism, and Graves disease Differentiating thyroid autoimmune disorders from nonautoimmune goiter or...

HTG2 - Overview: Thyroglobulin, Tumor Marker, Serum

Follow-up of patients with differentiated thyroid cancers after thyroidectomy and radioactive iodine ablation

SHBG1 - Overview: Sex Hormone-Binding Globulin, Serum

Diagnosis and follow-up of women with signs or symptoms of androgen excess (eg, polycystic ovarian syndrome and idiopathic hirsutism) An adjunct in monitoring sex-steroid and antiandrogen therapy An adjunct in the diagnosis of disorders...

CTB - Overview: Mycobacteria and Nocardia Culture, Varies

Detection and identification of Mycobacterium species, Nocardia species, and other aerobic actinomycetes

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

2AINH - Overview: Factor II Inhibitor Profile, Professional Interpretation

Interpretation of testing for the detection and quantitation of inhibitor to factor II

7AINH - Overview: Factor VII Inhibitor Profile, Professional Interpretation

Interpretation of testing for the detection and quantitation of inhibitor to factor VII

10AIH - Overview: Factor X Inhibitor Profile, Professional Interpretation

Interpretation of the detection and quantitation of inhibitor to coagulation factor X

11AIH - Overview: Factor XI Inhibitor Profile, Professional Interpretation

Interpretation of testing for the detection and quantitation of inhibitor to coagulation factor XI

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

Detecting, at diagnosis, recurrent common chromosome abnormalities associated with B-cell acute lymphoblastic leukemia/lymphoma (B-ALL/LBL) and Philadelphia chromosome-like acute lymphoblastic leukemia (Ph-like ALL) in adult patients As...

ACC - Overview: Adrenal Mass Panel, 24 Hour, Urine

Aiding in assessing malignancy in adrenal masses May aid in improving diagnostic and prognostic prediction and dissect disease mechanisms for the following applications: -Diagnostic assessment and follow up of adrenal cortical...

COGBF - Overview: B-Cell Acute Lymphoblastic Leukemia/Lymphoma (ALL), Children's Oncology Group Enrollment Testing, FISH, Varies

Evaluation of pediatric bone marrow and peripheral blood specimens by fluorescence in situ hybridization probe analysis for classic rearrangements and chromosomal copy number changes associated with B-cell acute lymphoblastic...