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Test Catalog
HCMM - Overview: Homocysteine (Total), Methylmalonic Acid, and Methylcitric Acid, Blood Spot
Second-tier assay of newborn screening specimens when abnormal propionyl carnitine or methionine concentrations are identified in a primary newborn screen
Rapid detection of Mycobacterium tuberculosis DNA from respiratory specimens for the diagnosis of pulmonary tuberculosis Presumptive detection of rifampin resistance based on the presence of resistance-associated mutations
WESPR - Overview: Panel to Whole Exome Sequencing Reflex Test, Varies
Serving as a second-tier test for patients in whom previous genetic testing was negative or inconclusive Identifying causative variants in genes that were not included on panel testing which can allow for: -Better understanding of the...
FFTRO - Overview: Trofile DNA Co-Receptor Tropism Assay
Detect HIV-1 coreceptor tropism; determine eligibility for CCR5 antagonist therapy such as Selzentry™ (maraviroc).
WEGG - Overview: Whole Egg, IgE, Serum
Establishing a diagnosis of an allergy to whole egg Defining the allergen responsible for eliciting signs and symptoms Identifying allergens: -Responsible for allergic response and/or anaphylactic episode -To confirm sensitization prior...
EGGPF - Overview: Egg Comprehensive Profile, Serum
Identifying egg allergens: -Responsible for allergic disease and/or anaphylactic episode -To confirm sensitization prior to beginning immunotherapy This test is not useful for patients previously treated with immunotherapy to determine if...
BAPS - Overview: Bile Acid Profile, Serum
Evaluating the enterohepatic cycle consisting of the biliary system, intestine, portal circulation, and hepatocytes Supporting researchers in need of free and conjugated values of all 20 bile acid species as well as total bile acid
EGWTP - Overview: Egg White Component Profile, Serum
Identifying egg white allergens: -Responsible for allergic disease and/or anaphylactic episode -To confirm sensitization prior to beginning immunotherapy This test is not useful for patients previously treated with immunotherapy to...
CDG - Overview: Carbohydrate Deficient Transferrin for Congenital Disorders of Glycosylation, Serum
Screening for congenital disorders of glycosylation This test is not useful for screening patients for chronic alcohol abuse.
FAPCP - Overview: Fatty Acid Profile, Comprehensive (C8-C26), Serum
Monitoring patients undergoing diet therapy for mitochondrial or peroxisomal disorders (possibly inducing essential fatty acid deficiency in response to restricted fat intake) using serum specimens Monitoring treatment of essential fatty...
PFAPC - Overview: Fatty Acid Profile, Comprehensive (C8-C26), Plasma
Monitoring patients undergoing diet therapy for mitochondrial or peroxisomal disorders (possibly inducing essential fatty acid deficiency in response to restricted fat intake) using plasma specimens Monitoring treatment of essential fatty...
FFTRP - Overview: Trofile Co-Receptor Tropism Assay
Detect HIV-1 coreceptor tropism; determine eligibility for CCR5 antagonist therapy such as maraviroc (Selzentry)
CSTB - Overview: CSTB Gene, Repeat Expansion Analysis, Varies
Molecular confirmation of clinically suspected CSTB-related progressive myoclonic epilepsy Identifying full penetrance dodecamer repeat expansions within CSTB known to cause CSTB-related progressive myoclonic epilepsy, allowing for...
I2SB - Overview: Iduronate-2-Sulfatase, Blood Spot
Supporting the biochemical diagnosis of mucopolysaccharidosis II (MPS II; Hunter syndrome) This test is not useful for determining carrier status for MPS II.
NMH24 - Overview: N-Methylhistamine, 24 Hour, Urine
Screening for and monitoring of mastocytosis and disorders of systemic mast-cell activation, such as anaphylaxis and other forms of severe systemic allergic reactions using 24-hour urine collection specimens Monitoring therapeutic...
TPI1 - Overview: Triosephosphate Isomerase Enzyme Activity, Blood
Evaluating individuals with chronic nonspherocytic hemolytic anemia Evaluating individuals with early onset neurologic impairment Genetic counseling for families with triosephosphate isomerase deficiency
EPO - Overview: Erythropoietin, Serum
An aid in distinguishing between primary and secondary polycythemia Differentiating between appropriate secondary polycythemia (eg, high-altitude living, pulmonary disease, tobacco use) and inappropriate secondary polycythemia (eg,...
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...
ALBLI - Overview: Limited Bleeding Diathesis Profile Interpretation
Interpretation of testing performed as part of a profile to detect of the more common potential causes of abnormal bleeding (eg, factor deficiencies/hemophilia, von Willebrand disease, factor-specific inhibitors) and a simple screen to...
TPIC - Overview: Triosephosphate Isomerase Enzyme Activity, Blood
Evaluating individuals with chronic nonspherocytic hemolytic anemia Evaluating individuals with early onset neurologic impairment Genetic counseling for families with triosephosphate isomerase deficiency
Predicting potential for toxicity to thiopurine drugs (6-mercaptopurine, 6-thioguanine, and azathioprine)
Detection of genotypic resistance to pyrazinamide by Mycobacterium tuberculosis complex isolates
SCAP - Overview: Spinocerebellar Ataxia Repeat Expansion Panel, Varies
Molecular confirmation of clinically suspected spinocerebellar ataxia when a specific subtype isn't suspected
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)
PSAFT - Overview: Prostate-Specific Antigen (PSA), Total and Free, Serum
As an aid in distinguishing prostate cancer from benign prostatic conditions in men aged 50 years and older with total PSA between 4.0 and 10.0 ng/mL with digital rectal examination findings that are not suspicious for cancer
THCG - Overview: Human Chorionic Gonadotropin (hCG), Quantitative, Pregnancy, Serum
Early detection of pregnancy Investigation of suspected ectopic pregnancy or other pregnancy-related complications Monitoring in vitro fertilization patients This test is not useful for detecting or monitoring tumors or gestational...
GLUCG - Overview: Glucagon Immunostain, Technical Component Only
Aiding in the study of islet-cell tumors and some endocrine tumors of the gastrointestinal tract
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
PFK1 - 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
PIK3B - Overview: Cell-Free DNA PIK3CA Test, Blood
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).
TCRF1 - Overview: T-Cell Receptor Beta (TCR Beta F1) Immunostain, Technical Component Only
Classification of lymphomas
INHIB - Overview: Inhibin Immunostain, Technical Component Only
Identifying sex cord-stromal tumors
AHPRU - Overview: Antihypertension Panel, Random, Urine
Aid in the management of hypertension, especially treatment resistant hypertension Monitoring compliance in individuals prescribed antihypertensive drug therapy As a screen to detect non-prescribed use of common diuretics
WBSEQ - Overview: Beta Globin Gene Sequencing, Varies
Diagnosis of beta thalassemia intermedia or major Identification of a specific beta thalassemia sequence variant (ie, unusually severe beta thalassemia trait) Evaluation of an abnormal hemoglobin electrophoresis identifying a rare...
Aiding in the diagnosis of Helicobacter pylori infection and prediction of clarithromycin resistance or susceptibility directly from stool
CSFP - Overview: Carrier Screen, Focused Panel, Varies
Expanded carrier screening for reproductive risk assessment purposes This test is not useful for clinical diagnosis of an affected individual.
DMNES - Overview: Peripheral Nervous System Demyelinating Neuropathy, Autoimmune Evaluation, Serum
Evaluating patients with a suspected immune-mediated demyelinating peripheral neuropathy
AKC - Overview: Adenylate Kinase Enzyme Activity, Blood
Assessment of adenylate kinase activity as part of the evaluation of chronic nonspherocytic hemolytic anemia
AK1 - Overview: Adenylate Kinase Enzyme Activity, Blood
Evaluation of chronic nonspherocytic hemolytic anemia
CXC13 - Overview: CXCL13 Immunostain, Technical Component Only
Assessment of CXCL13 (CXC motif chemokine ligand 13) expression
CD1A - Overview: CD1a Immunostain, Technical Component Only
Marker of Langerhans cells and immature T cells
FOXP1 - Overview: FOXP1 Immunostain, Technical Component Only
Classification of lymphomas
K11CC - Overview: Kelch-Like Protein 11 Antibody, Cell Binding Assay, Spinal Fluid
Evaluating patients with paraneoplastic or autoimmune encephalitis (brainstem encephalitis or limbic encephalitis or cerebellar ataxia) using spinal fluid specimens
K11CS - Overview: Kelch-Like Protein 11 Antibody, Cell Binding Assay, Serum
Evaluating patients with paraneoplastic or autoimmune encephalitis (brainstem encephalitis or limbic encephalitis or cerebellar ataxia) using serum specimens
CMACB - Overview: Chromosomal Microarray, Congenital, Blood
First-tier, postnatal testing for individuals with multiple anomalies that are not specific to well-delineated genetic syndromes, apparently nonsyndromic developmental delay or intellectual disability, or autism spectrum disorders as...
EOSMF - Overview: Chronic Eosinophilia, Specified FISH, Varies
Detecting a neoplastic clone associated with the common chromosome abnormalities seen in patients with myeloid/lymphoid neoplasms with eosinophilia and gene rearrangement (including PDGFRA, PDGFRB, FGFR1, JAK2, and ABL1) using specified...
EOSDF - Overview: Chronic Eosinophilia, Diagnostic FISH, Varies
Detecting a neoplastic clone associated with the common chromosome abnormalities seen in patients with myeloid/lymphoid neoplasms with eosinophilia and gene rearrangement (including PDGFRA, PDGFRB, FGFR1, JAK2, and ABL1). Supporting the...
G6PDC - Overview: Glucose 6 Phosphate Dehydrogenase Enzyme Activity, Blood
Evaluation of individuals with episodic or chronic Coombs-negative nonspherocytic hemolytic anemia Rapid testing to assess glucose-6-phosphate dehydrogenase (G6PD) enzyme capacity prior to rasburicase or other therapies that may cause...
3A4Q - Overview: Cytochrome P450 3A4 Genotype, Varies
Aids in determining therapeutic strategies for drugs that are metabolized by cytochrome P450 3A4, including quetiapine This test is not useful for managing patients receiving fluvastatin, rosuvastatin, or pravastatin since these drugs are...
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Alpha-gal testing [Test in Focus] - Insights
allergy to the alpha-gal molecule, and he describes a new allergen antibody test that can be used to detect it. Dr. Bornhorst also reviews other tests that should be used in conjunction with alpha-gal testing...
MCL Second Trimester Maternal Screening AlphaFetoprotein Quad Screen Patient Information MC1235123
AlphaFetoprotein Quad Screen Patient Information Complete print Reset Form Trimester Maternal Screening Alpha Fetoprotein Quad Screen Patient Information Patient Information required Patient...
Alpha1 Antitrypsin—A Comprehensive Testing Algorithm A1AT serum level and proteotype Order A1ALC / Alpha-1-Antitrypsin Proteotype S/Z by LC-MS/MS, Serum incl......
Neuroimmunology: Updates and antibody test utilization - Insights
In this month’s “Hot Topic,” Andrew McKeon, M.B., B.Ch., M.D., reviews the use of neurological phenotype-based evaluations, the move away from the paraneoplastic evaluation, and upcoming changes to test...
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...