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

FAO - Overview: Fatty Acid Oxidation Probe Assay, Fibroblast Culture

In vitro confirmation of biochemical diagnoses of the following fatty acid oxidation disorders: -Short-chain acyl-CoA dehydrogenase deficiency -Medium-chain acyl-CoA dehydrogenase deficiency -Long-chain 3-hydroxyacyl-CoA dehydrogenase...

MRSAP - Overview: Methicillin Resistant Staphylococcus aureus, PCR, Nasal

Rapid screening test for Staphylococcus aureus nasal carriage that, if positive, indicates whether the S aureus is methicillin susceptible or resistant This test should not be used to guide or monitor treatment for methicillin-resistant S...

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.

AATTF - Overview: Antithrombin Activity, with Reflex to Antithrombin Antigen, Plasma

Diagnosis of antithrombin deficiency, acquired or congenital

ARSAW - Overview: Arylsulfatase A, Leukocytes

Preferred enzymatic test for detection of arylsulfatase A deficiency This test is not suitable for carrier detection.

ARSU - Overview: Arylsulfatase A, 24 Hour, Urine

Detection of arylsulfatase A deficiency using urine specimens This test is not suitable for carrier detection.

BRAZX - Overview: Brazil Nut Component, IgE, Serum

Evaluation of patients with suspected Brazil nut allergy to component Ber e 1

CXLPL - Overview: CXCR4 Mutation Analysis, Somatic, Lymphoplasmacytic Lymphoma/Waldenstrom Macroglobulinemia, Varies

Aiding in the prognosis and clinical management of lymphoplasmacytic lymphoma/Waldenstrom macroglobulinemia

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...

MPQU - Overview: Monoclonal Protein Quantitation, 24 Hour, Urine

Monitoring patients with monoclonal gammopathies using 24-hour urine collections

NADF - Overview: Newborn Aneuploidy Detection, FISH, Blood

Screening for chromosomal aneuploidies of chromosomes 13, 18, 21, X, and Y in newborn peripheral blood specimens

RPMPM - Overview: Mycoplasma (Mycoplasmoides) pneumoniae Macrolide (Azithromycin) Resistance Prediction, Molecular Detection, PCR, Varies

Predicting macrolide susceptibility in Mycoplasma (Mycoplasmoides) pneumoniae

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

METF - Overview: MET (7q31), FISH, Tissue

Providing prognostic information and guiding treatment primarily for patients with lung, gastric, and colorectal tumors as well as other tumor types

TSI - Overview: Thyroid-Stimulating Immunoglobulin, Serum

Second-order testing for autoimmune thyroid disease, including: -Differential diagnosis of etiology of thyrotoxicosis in patients with ambiguous clinical signs or contraindicated (eg, pregnant or breast-feeding) or indeterminate thyroid...

CASHX - Overview: Cashew Component, IgE, Serum

Evaluation of patients with suspected cashew allergy to component Ana o 3

CMAPT - Overview: Chromosomal Microarray, Tumor, Formalin-Fixed Paraffin-Embedded

Genomic characterization of tumor for copy number imbalances and loss of heterozygosity Assisting in the diagnosis and classification of malignant neoplasms Evaluating the prognosis for patients with malignant tumors

ADNA1 - Overview: Double-Stranded DNA (dsDNA) Antibodies, IgG, Serum

Evaluating patients with clinical features or at-risk for systemic lupus erythematosus (SLE) Monitoring disease activity, as an adjunct test, in patients with SLE previously positive for double-stranded DNA IgG antibodies

GALTP - Overview: Galactose-1-Phosphate Uridyltransferase Biochemical Phenotyping, Erythrocytes

Determining the biochemical phenotype for galactosemia when enzymatic and molecular results are incongruent

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

LENT - Overview: Enterovirus, Molecular Detection, PCR, Varies

Aiding in diagnosing enterovirus infections This test should not be used to screen asymptomatic patients.

GAES - Overview: Ganglioside Antibodies Evaluation, Serum

Supporting the diagnosis of an autoimmune neuropathy

MLHPB - Overview: MLH1 Hypermethylation Analysis, Blood

As an adjunct to positive hypermethylation in tumor to distinguish between somatic and germline hypermethylation As an adjunct to negative MLH1 germline testing in cases where colon or endometrial tumor demonstrates microsatellite...

NSAI - Overview: Neurosyphilis IgG, Antibody Index, Spinal Fluid

Aid in the diagnosis of neuroinvasive syphilis as part of a profile

GLIC - Overview: CD8 T-Cell Immune Competence, Global, Blood

Determining overimmunosuppression within the CD8 T-cell compartment, when used on transplant recipients and patients with autoimmune disorders receiving therapy with immunosuppressant agents

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...

WESMT - Overview: Whole Exome and Mitochondrial Genome Sequencing, Varies

Serving as a first-tier test to identify a molecular and/or mitochondrial diagnosis in patients with suspected genetic disorders, which can allow for: -Better understanding of the natural history/prognosis -Targeted management (anticipatory...

MAC1 - Overview: Myelopathy, Autoimmune/Paraneoplastic Evaluation, Spinal Fluid

Evaluating patients with suspected autoimmune myelopathy, myelitis, and paraneoplastic myelopathy using spinal fluid specimens

MAS1 - Overview: Myelopathy, Autoimmune/Paraneoplastic Evaluation, Serum

Evaluating patients with suspected autoimmune myelopathy, myelitis, and paraneoplastic myelopathy using serum specimens

EPS2 - Overview: Epilepsy, Autoimmune/Paraneoplastic Evaluation, Serum

Investigating new onset cryptogenic epilepsy with incomplete seizure control and duration of less than 2 years, using serum specimens Investigating new onset cryptogenic epilepsy plus 1 or more of the following accompaniments: -Psychiatric...

BPGMM - Overview: 2,3-Bisphosphoglycerate Mutase, Full Gene Sequencing Analysis, Varies

Diagnosing 2,3-bisphosphoglycerate mutase deficiency in individuals with lifelong, unexplained erythrocytosis Identifying genetic variant carriers in family members of an affected individual for the purposes of preconception genetic...

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...

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...

CPAVP - Overview: Copeptin proAVP, Plasma

Investigating the differential diagnosis for patients with water balance disorders, including diabetes insipidus, in conjunction with osmolality and hydration status May aid in the evaluation of cardiovascular disease in conjunction with...

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

MPS2Z - Overview: Hunter Syndrome, Full Gene Analysis, Varies

Confirmation of a diagnosis of mucopolysaccharidosis type II (Hunter syndrome) Carrier testing when there is a family history of mucopolysaccharidosis type II (Hunter syndrome), but disease-causing variants have not been previously...

F8INV - Overview: Hemophilia A F8 Gene, Intron 1 and 22 Inversion Mutation Analysis, Whole Blood

First-tier molecular testing for male patients affected with severe hemophilia A when a variant has not been identified in the family Determining hemophilia A carrier status for at-risk female patients, ie, individuals with a family...

F81B - Overview: Hemophilia A F8 Gene, Intron 1 Inversion Known Mutation, Whole Blood

First-tier molecular testing for male patients affected with severe hemophilia A, when a familial intron 1 inversion has been previously identified Determining hemophilia A carrier status for at-risk female patients, ie, individuals with...

HPFRP - Overview: Helicobacter pylori with Clarithromycin Resistance Prediction, Molecular Detection, PCR, Feces

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

TFH - Overview: FH Mutation Analysis, Next-Generation Sequencing, Tumor

Identifying specific mutations within the FH gene to assist in tumor diagnosis/classification, including renal cell carcinoma, uterine/cutaneous leiomyoma, and pheochromocytoma/paraganglioma

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

LMPP - Overview: Lipoprotein Metabolism Profile, Serum

Diagnosing dyslipoproteinemia Quantifying cholesterol and triglycerides in very-low-density lipoprotein, low-density lipoprotein (LDL), high-density lipoproteins (HDL), and chylomicrons Identifying lipoprotein-X Classifying...

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...

AB2GP - Overview: Beta-2 Glycoprotein 1 Antibodies, IgA, Serum

Evaluating patients with suspected antiphospholipid syndrome by identification of beta-2 glycoprotein 1 IgA antibodies Evaluating patients at-risk for antiphospholipid syndrome (APS) who are negative for criteria APS tests Estimating the...

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...

BRAZR - Overview: Brazil Nut, IgE with Reflex to Brazil Nut Component, IgE, Serum

Evaluation of patients with suspected Brazil nut allergy

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...

MAMLF - Overview: MAML2 (11q21) Rearrangement, Mucoepidermoid Carcinoma (MEC), FISH, Tissue

Supporting the diagnosis of mucoepidermoid carcinoma when used in conjunction with an anatomic pathology consultation

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...