TYRBS - Overview: Tyrosinemia Follow Up Panel, Blood Spot

Monitoring of individuals with tyrosinemia type 1 (HT-1) Diagnosis of HT-1 when used in conjunction with testing for urine organic acids, liver function, alpha-fetoprotein, and molecular genetic analysis of the fumarylacetoacetate...

SERPZ - Overview: SERPINA1 Gene, Full Gene Analysis, Varies

Identification of causative mutations when a deficient serum level of alpha-1-antitrypsin is not explained by routine testing, such as proteotyping, genotyping, or isoelectric focusing phenotyping. Determining the specific allelic variant...

CDGN - Overview: Congenital Disorders of N-Glycosylation, Serum

Screening for N-linked congenital disorders of glycosylation Providing information on specific structural oligosaccharide abnormalities to potentially direct further genetic testing

IHC - Overview: Mismatch Repair (MMR) Protein Immunohistochemistry Only, Tumor

Evaluating tumor tissue to identify patients at risk for having hereditary nonpolyposis colon cancer/Lynch syndrome

IL28Q - Overview: Interleukin 28B (IL28B) Variant (rs12979860), Varies

Predicting responsiveness of genotype 1 hepatitis C viral infections to combined pegylated-interferon and ribavirin-based therapies

CCP - Overview: Cyclic Citrullinated Peptide Antibodies, IgG, Serum

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

PFKC - Overview: Phosphofructokinase Enzyme Activity, Blood

Evaluation of individuals with Coombs-negative nonspherocytic hemolytic anemia Evaluation of individuals with exercise intolerance or myopathy Genetic studies in families with phosphofructokinase deficiency

BTB46 - Overview: ZBTB46 Immunostain, Technical Component Only

Identification of dendritic cells and classification of histiocytic disorders

EZNT8 - Overview: Zinc Transporter 8 (ZnT8) Antibody, Serum

Clinical distinction of type 1 from type 2 diabetes mellitus Identification of individuals at risk of type 1 diabetes (including high-risk relatives of patients with diabetes, and those with gestational diabetes) Prediction of future need...

YAP1 - Overview: Yes-Associated Protein (YAP) Immunostain, Technical Component Only

Identification and differentiation of medulloblastomas

MA2ES - Overview: Ma2 Antibody by ELISA, Serum

Evaluating patients with suspected paraneoplastic encephalitides using serum specimens

MA2EC - Overview: Ma2 Antibody, ELISA, Spinal Fluid

Evaluating patients with suspected paraneoplastic encephalitides using spinal fluid specimens

HGUOE - Overview: Mercury Occupational Exposure, Random, Urine

Detecting mercury toxicity due to occupational exposure

TRYPA - Overview: Tryptase, Autopsy, Serum

Evaluation of autopsy cases in which anaphylaxis in the context of allergen exposure or mast cell activation is a suspected cause of death

T46IS - Overview: Tripartite Motif-Containing Protein 46 (TRIM46) IgG, Tissue Immunofluorescence, Serum

Detecting tripartite motif-containing protein 46 (TRIM46)-IgG in serum specimens Evaluation of an autoimmune/paraneoplastic neurological syndrome among patients presenting with cerebellar ataxia, encephalitis, or encephalomyelitis

T46IC - Overview: Tripartite Motif-Containing Protein 46 (TRIM46) IgG, Tissue Immunofluorescence, Spinal Fluid

Detecting tripartite motif-containing protein 46 (TRIM46)-IgG in cerebrospinal fluid specimens Evaluation of an autoimmune/paraneoplastic neurological syndrome among patients presenting with cerebellar ataxia, encephalitis, or...

T46TS - Overview: Tripartite Motif-Containing Protein 46 (TRIM46) IgG, Tissue Immunofluorescence Titer, Serum

Reporting an end titer result for tripartite motif-containing protein 46 (TRIM46)-IgG in serum specimens Evaluation of an autoimmune/paraneoplastic neurological syndrome among patients presenting with cerebellar ataxia, encephalitis, or...

TLUCR - Overview: Thallium/Creatinine Ratio, Random, Urine

Detecting toxic thallium exposure in random urine specimens

ECAD - Overview: E-Cadherin Immunostain, Technical Component Only

Differentiation between lobular and ductal neoplasms of the breast

MSFGN - Overview: Fibrillary Glomerulonephritis Confirmation, Mass Spectrometry, Paraffin Tissue

Diagnosing fibrillary glomerulonephritis

PBCU - Overview: Lead/Creatinine Ratio, Urine

Detecting clinically significant lead exposure using random urine specimens This test is not a substitute for blood lead screening.

APOA1 - Overview: Apolipoprotein A1, Serum

Evaluating risk for atherosclerotic cardiovascular disease Aiding in the detection of Tangier disease

AKC - Overview: Adenylate Kinase Enzyme Activity, Blood

Assessment of adenylate kinase activity as part of the evaluation of chronic nonspherocytic hemolytic anemia

GAAWR - Overview: Acid Alpha-Glucosidase Reflex, Leukocytes

Diagnosis of Pompe disease as a confirmatory reflex of the 6-enzyme panel

SFINC - Overview: Cerebrospinal Fluid (CSF) IgG Index, Spinal Fluid

Aiding in the diagnosis of multiple sclerosis and other central nervous system inflammatory conditions using cerebrospinal fluid specimens

HGU - Overview: Mercury, 24 Hour, Urine

Detecting mercury toxicity using 24-hour urine specimens

NF4FS - Overview: Neurofascin-155 IgG4, Flow Cytometry, Serum

Evaluating patients with an underlying demyelinating neuropathy Diagnosis of a neurofascin-155 IgG4 mediated neuropathy

MSTC - Overview: Strict Criteria Sperm Morphology for Infertility Diagnosis and Treatment, Semen

Diagnosing male infertility Selecting the most cost-effective therapy for treating male-factor infertility Quantifying the number of germinal and white blood cells per mL of semen

CD2B - Overview: CD2 Immunostain, Bone Marrow, Technical Component Only

Determining T-cell lineage

CLDL1 - Overview: Cholesterol, Low-Density Lipoprotein (LDL), Calculated, Serum

Calculation of low-density lipoprotein cholesterol using total cholesterol, non-high-density lipoprotein (HDL) cholesterol, HDL cholesterol, and triglyceride concentrations Managing atherosclerotic cardiovascular disease risk

PNPAB - Overview: Paraneoplastic Pemphigus Antibody, IgG, Serum

Diagnosis of paraneoplastic pemphigus/paraneoplastic autoimmune multiorgan syndrome in the setting of erosive or lichenoid mucocutaneous disease

SDLDL - Overview: Small Dense Low Density Lipoprotein Cholesterol, Serum

Aiding in risk management of lipoprotein disorders associated with cardiovascular disease when used in conjunction with other lipid measurements and clinical evaluation

T46TC - Overview: Tripartite Motif-Containing Protein 46 (TRIM46) IgG, Tissue Immunofluorescence Titer, Spinal Fluid

Reporting an end-titer result for tripartite motif-containing protein 46 (TRIM46)-IgG in cerebrospinal fluid specimens Evaluation of an autoimmune/paraneoplastic neurological syndrome among patients presenting with cerebellar ataxia,...

XHIM - Overview: X-Linked Hyper IgM Syndrome, Blood

Screening for X-linked hyper-IgM (XL-HIGM) or CD40L deficiency, primarily in male patients younger than 10 years Ascertaining XL-HIGM carrier status in women of child-bearing age (younger than 45 years)

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...

HBCRQ - Overview: Hepatitis B Virus Core-Related Antigen, Quantitative, Serum

Monitoring of response to antiviral therapy in individuals with chronic hepatitis B who are negative for hepatitis B e antigen (HBeAg), positive for hepatitis B e antibody, and undetectable or low hepatitis B virus DNA levels (eg, <500...

LBCS - Overview: Labile Bound Copper, Serum

May be useful in the evaluation of copper-related disorders, including Wilson disease

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...

CTNBT - Overview: B-Catenin Mutation Analysis, Next-Generation Sequencing, Tumor

Distinguishing desmoid-type fibromatosis from other soft tissue tumors by assessing gene targets within the beta-catenin (CTNNB1) gene

BRAZX - Overview: Brazil Nut Component, IgE, Serum

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

MSH6 - Overview: MSH6 Immunostain, Technical Component Only

Identifying patients at high risk for having hereditary nonpolyposis colorectal cancer, also known as Lynch syndrome, in an immunopanel including MSH6 and other mismatch repair markers Evaluation of tumor tissue to identify patients at...

PEE - Overview: Porphyrins Evaluation, Whole Blood

Establishing a biochemical diagnosis of erythropoietic protoporphyria and X-linked dominant protoporphyria

CASHX - Overview: Cashew Component, IgE, Serum

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

2C9QT - Overview: Cytochrome P450 2C9 Genotype, Varies

Identifying individuals who may be at risk for altered metabolism of drugs that are modified by cytochrome P450 2C9

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)...

ARSAW - Overview: Arylsulfatase A, Leukocytes

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

FGEN - Overview: Fungal Culture, Routine

Diagnosing fungal infections from specimens other than blood, skin, hair, nails, and vagina (separate tests are available for these specimen sites)

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...

SCIDP - Overview: Severe Combined Immunodeficiency (SCID) Gene Panel, Varies

Establishing a diagnosis of a severe combined immunodeficiency (SCID) associated with known causal genes Identifying variants within genes known to be associated with SCID, allowing for predictive testing of at-risk family members and/or...

PRKSG - Overview: PRKAR1A Full Gene Sequencing with Deletion/Duplication, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of Carney Complex (CNC) or acrodysostosis-1 with hormone resistance Establishing a diagnosis of CNC or acrodysostosis-1 with hormone resistance