FFTRO - Overview: Trofile DNA Co-Receptor Tropism Assay
Detect HIV-1 coreceptor tropism; determine eligibility for CCR5 antagonist therapy such as Selzentry™ (maraviroc).
TLBLF - Overview: T-Lymphoblastic Leukemia/Lymphoma, FISH, Tissue
Detecting recurrent common chromosome abnormalities associated with T-cell acute lymphoblastic leukemia/lymphoma (T-ALL) using client specified probes Identifying and tracking known chromosome abnormalities in patients with T-ALL and...
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...
DPYDQ - Overview: Dihydropyrimidine Dehydrogenase Genotype, Varies
Identifying individuals with genetic variants in DPYD who are at increased risk of toxicity when prescribed 5-fluorouracil (5-FU) or capecitabine chemotherapy treatment
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...
FFTRP - Overview: Trofile Co-Receptor Tropism Assay
Detect HIV-1 coreceptor tropism; determine eligibility for CCR5 antagonist therapy such as maraviroc (Selzentry)
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...
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.
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
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...
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...
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...
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,...
MSUDP - Overview: Maple Syrup Urine Disease Gene Panel, Varies
Follow up for abnormal biochemical results suggestive of maple syrup urine disease (MSUD) Establishing a molecular diagnosis for patients with MSUD Identifying variants within genes known to be associated with MSUD, allowing for...
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
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...
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
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...
Detection of genotypic resistance to pyrazinamide by Mycobacterium tuberculosis complex isolates
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)...
3A4Q - Overview: Cytochrome P450 3A4 Genotype, Varies
Aids in determining therapeutic strategies for drugs that are metabolized by cytochrome P450 3A4, including atorvastatin, simvastatin, and lovastatin This test is not useful for managing patients receiving fluvastatin, rosuvastatin, or...
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
DMNES - Overview: Peripheral Nervous System Demyelinating Neuropathy, Autoimmune Evaluation, Serum
Evaluating patients with a suspected immune-mediated demyelinating peripheral neuropathy
Predicting potential for toxicity to thiopurine drugs (6-mercaptopurine, 6-thioguanine, and azathioprine)
SCAP - Overview: Spinocerebellar Ataxia Repeat Expansion Panel, Varies
Molecular confirmation of clinically suspected spinocerebellar ataxia when a specific subtype isn't suspected
Aiding in the diagnosis of Helicobacter pylori infection and prediction of clarithromycin resistance or susceptibility directly from stool
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)
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
AKC - Overview: Adenylate Kinase Enzyme Activity, Blood
Assessment of adenylate kinase activity as part of the evaluation of chronic nonspherocytic hemolytic anemia
CXC13 - Overview: CXCL13 Immunostain, Technical Component Only
Assessment of CXCL13 (CXC motif chemokine ligand 13) expression
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
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
TCRF1 - Overview: T-Cell Receptor Beta (TCR Beta F1) Immunostain, Technical Component Only
Classification of lymphomas
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
INHIB - Overview: Inhibin Immunostain, Technical Component Only
Identifying sex cord-stromal tumors
GUSBW - Overview: Beta-Glucuronidase, Leukocytes
Supporting the biochemical diagnosis of mucopolysaccharidosis type VII (MPS VII, Sly syndrome) in whole blood This test is not useful for carrier detection.
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).
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.
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...
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...
FCDU4 - Overview: Novel Psychoactives, Umbilical Cord Tissue
Novel Psychoactives, Umbilical Cord Tissue
AK1 - Overview: Adenylate Kinase Enzyme Activity, Blood
Evaluation of chronic nonspherocytic hemolytic anemia
BIOTS - Overview: Biotinidase, Serum
Preferred test for the diagnosis of biotinidase deficiency Follow-up testing for certain organic acidurias
CRMWS - Overview: Collapsin Response-Mediator Protein-5-IgG, Western Blot, Serum
Evaluation of cases of chorea, vision loss, cranial neuropathy and myelopathy
CRMWC - Overview: Collapsin Response-Mediator Protein-5-IgG, Western Blot, Spinal Fluid
Evaluation of cases of chorea, vision loss, cranial neuropathy and myelopathy
CD1A - Overview: CD1a Immunostain, Technical Component Only
Marker of Langerhans cells and immature T cells
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...
autoimmune-paraneoplastic-movement-disorder-evaluation-algorithm-serum.pdf
Autoimmune/Paraneoplastic Movement Disorder Evaluation Algorithm – Serum ■ GFAP alpha subunit antibody by CBA ■ GFAP alpha subunit antibody by IF titer assay ......