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Test Catalog
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)
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)
PANGP - Overview: Expanded Pancreatitis Gene Panel, Varies
Confirmation of suspected clinical diagnosis of familial or hereditary pancreatitis in patients with chronic pancreatitis Identification of gene variants contributing to pancreatitis in an individual or family Identification of gene...
AHLP - Overview: AudioloGene Hearing Loss Panel, Varies
Establishing a diagnosis of a syndromic or nonsyndromic hereditary hearing loss disorder Identifying variants within genes known to be associated with hereditary hearing loss, allowing for predictive testing of at-risk family members
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
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...
BCL2 - Overview: BCL-2 Immunostain, Technical Component Only
Classification of lymphomas
BRAFV - Overview: BRAF V600E Immunostain, Technical Component Only
Identification of BRAF V600E-mutated protein
BILAO - Overview: Biliary Tract Malignancy, FISH, Varies
Assessing bile duct brushing or hepatobiliary brushing specimens for biliary tract malignancy
ASCL1 - Overview: Achaete-Scute Homolog 1 (ASCL1) Immunostain, Technical Component Only
Identification of the presence of achaete-scute homolog 1 (ASCL1)
ABCRS - Overview: Alpha/Beta Crystallin IHC, Technical Component Only
Characterization of neuroectodermal tumors
APPI - Overview: Amyloid Precursor Protein (APP) Immunostain, Technical Component Only
Aids in the identification of amyloid precursor protein present in Alzheimer disease
C5DCU - Overview: C5-DC Acylcarnitine, Quantitative, Random, Urine
Evaluation of patients with an abnormal newborn screen showing elevations of glutarylcarnitine Diagnosis of glutaric aciduria type 1 deficiency
C1QFX - Overview: C1q Complement, Functional, Serum
Diagnosis of C1 deficiency Investigation of a patient with an absent total complement level
C4U - Overview: C4 Acylcarnitine, Quantitative, Random, Urine
Evaluation of patients with abnormal newborn screens showing elevations of iso-/butyrylcarnitine to aid in the differential diagnosis of short-chain acyl-CoA dehydrogenase and isobutyryl-CoA dehydrogenase deficiencies
HMHA - Overview: Heavy Metals, Hair
Detection of nonacute arsenic, mercury, and lead exposure using hair specimens
Aiding in the diagnosis of multiple sclerosis and other central nervous system inflammatory conditions as a part of a profile
BCGBM - Overview: Immunoglobulin Gene Rearrangement, PCR, Bone Marrow
Determining whether a B-cell or plasma cell population is polyclonal or monoclonal using bone marrow specimens Identifying neoplastic cells as having B-cell or plasma cell differentiation Monitoring for a persistent neoplasm by...
HG34W - Overview: Histone 3.3 G34W (H3F3A G34W) Immunostain, Technical Component Only
Aiding in the diagnosis of giant cell tumor of bone
BCGR - Overview: Immunoglobulin Gene Rearrangement, Blood
Determining whether a B-cell or plasma cell population is polyclonal or monoclonal using whole blood specimens Identifying neoplastic cells as having B-cell or plasma cell differentiation Monitoring for a persistent neoplasm by...
UIOD - Overview: Iodine, 24 Hour, Urine
Assessing iodine toxicity or recent exposure in a 24-hour urine collection Monitoring iodine excretion rate as index of replacement therapy
HAEVI - Overview: Hemolytic Anemia Interpretation
Interpretation of the results for the evaluation of hemolytic anemia Evaluation of lifelong or inherited hemolytic anemias, including red cell membrane disorders, unstable or abnormal hemoglobin variants, and red cell enzyme disorders
HERDN - Overview: HER2, Breast, DCIS, Quantitative Immunohistochemistry, Manual No Reflex
Determining overexpression of HER2 protein on formalin-fixed, paraffin-embedded tissue sections in ductal carcinoma in situ or solid/intracystic papillary carcinoma breast tissue This FDA-approved test is most frequently used to evaluate...
HVAR - Overview: Homovanillic Acid, Random, Urine
Screening children for catecholamine-secreting tumors using a random urine collection when requesting homovanillic acid only Monitoring neuroblastoma treatment Screening patients with possible inborn errors of catecholamine metabolism
CTBBL - Overview: Mycobacterial Culture, Blood
Diagnosing mycobacteremia
PINP - Overview: Procollagen I Intact N-Terminal, Serum
Aiding in monitoring antiresorptive and anabolic therapy in patients with osteoporosis An adjunct in the assessment of conditions associated with increased bone turnover, such as Paget disease This test should not be used as a screening...
CCPQ - Overview: P/Q-Type Calcium Channel Antibody, Serum
Confirming a diagnosis of Lambert-Eaton syndrome Implicating autoimmunity as a disease-causing mechanism in patients with complex neurologic presentations, particularly in those with a history of cancer Implicating autoimmunity as the...
NMRLP - Overview: Nuclear Magnetic Resonance Lipoprotein Profile, Serum
Assessment and management of a patient's risk for atherosclerotic cardiovascular disease Identifying residual risk that may be present in some patients on cholesterol targeting treatment
NAPSN - Overview: Napsin A Immunostain, Technical Component Only
Identification of primary lung adenocarcinoma
PRL - Overview: Prolactin, Serum
Aiding in evaluation of pituitary tumors, amenorrhea, galactorrhea, infertility, and hypogonadism Monitoring therapy of prolactin-producing tumors
PIT1 - Overview: PIT-1 Immunostain, Technical Component Only
Classification of pituitary adenomas
PAX8 - Overview: PAX8 Immunostain, Technical Component Only
Aids in the identification of renal cell carcinomas, as well as papillary thyroid carcinomas and tumors of Mullerian origin
RB1 - Overview: Retinoblastoma Protein (Rb) Immunostain, Tech Only
Aids in the identification of high-grade neuroendocrine carcinomas and small cell carcinomas
PU1 - Overview: PU.1 Immunostain, Technical Component Only
Classification of lymphomas
PIK3T - Overview: PIK3CA Mutation Analysis, Tumor
Identification of hormone receptor positive and human epidermal growth factor receptor 2 negative (HR+/HER2-) advanced breast cancer tumors that may be eligible for treatment with targeted kinase inhibitor therapy (eg, alpelisib).
PBGU - Overview: Porphobilinogen, Quantitative, Random, Urine
First-order test for evaluating a suspected acute porphyria: acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria
REVEI - Overview: Erythrocytosis Interpretation
Interpretation of Erythrocytosis Evaluation profile test Definitive, comprehensive, and economical evaluation of an individual with JAK2-negative erythrocytosis associated with lifelong sustained increased hemoglobin or hematocrit
Evaluation of Rac2 deficiency and RAC2 gain of function
DSGAB - Overview: Desmoglein 1 (DSG1) and Desmoglein 3 (DSG3), IgG Antibodies, Serum
Preferred screening test for patients suspected to have an autoimmune blistering disorder of the skin or mucous membranes (pemphigus) Aiding in the diagnosis of pemphigus
CHOU - Overview: Carbohydrate, Urine
Screening for conditions associated with increased excretion of carbohydrates, including inborn errors of fructose and galactose metabolism. This test is not recommended as a follow up test for abnormal newborn screening for galactosemia.
CUS1 - Overview: Copper, Serum
Diagnosis of: -Wilson disease -Primary biliary cholangitis -Primary sclerosing cholangitis
CRSY - Overview: Chromium, Synovial Fluid
Monitoring metallic prosthetic implant wear and local tissue destruction in failed hip arthroplasty constructs This test is not useful for assessment of potential chromium toxicity.
COSY - Overview: Cobalt, Synovial Fluid
Monitoring metallic prosthetic implant wear and local tissue destruction in failed hip arthroplasty constructs This test is not useful for assessment of nutritional status or potential cobalt toxicity.
F2ISO - Overview: F2-Isoprostanes, Random, Urine
Assessment of in vivo lipid peroxidation Considered to be an index of systemic oxidative stress over time
FS - Overview: Fungal Smear, Varies
Detection of fungi in clinical specimens
PBUCR - Overview: Lead/Creatinine Ratio, Random, Urine
Detecting clinically significant lead exposure, a toxic heavy metal, using random urine specimens
LDLD - Overview: Low-Density Lipoprotein (LDL) Cholesterol, Beta-Quantification, Serum
Evaluation of cardiovascular risk Verification of estimated low-density lipoprotein cholesterol (LDL-C) in patients with hypertriglyceridemia or extremely low LDL-C Diagnosis of familial hypobetalipoproteinemia and abetalipoproteinemia
MSMN - Overview: Membranous Nephropathy Target Antigen Identification, Mass Spectrometry, Tissue
Identification of antigen in membranous nephropathy
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Learn more about how detection of amyotrophic lateral sclerosis and frontotemporal dementia paved the way for gene-targeted therapies for patients.
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