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Test Catalog

PGSN - Overview: Progesterone, Serum

Ascertaining whether ovulation occurred in a menstrual cycle Assessment of infertility Evaluation of abnormal uterine bleeding Evaluation of placental health in high-risk pregnancy Determining the effectiveness of progesterone...

BCELL - Overview: B-Cell and Antibody Deficiency Gene Panel, Varies

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of an inherited primary B-cell disorder or humoral immunodeficiency Establishing a diagnosis of a primary B-cell disorder or humoral...

GNHMA - Overview: Hemophilia A, F8 Gene, Next-Generation Sequencing, Varies

Confirming a clinical diagnosis of hemophilia A in affected male patients with the identification of a disease-causing variant in the F8 gene Determining the disease-causing alteration within the F8 gene to delineate the underlying...

YMCRO - Overview: Y Chromosome Microdeletions, Molecular Detection, Varies

Evaluating men with azoospermia, severe oligozoospermia, or otherwise unexplained male factor infertility

PBLI - Overview: Plasma Cell Assessment, Blood

Detecting peripheral blood involvement by plasma cell proliferative disorders Establishing the diagnosis of and determining prognosis for plasma cell proliferative disorders

GALK - Overview: Galactokinase, Blood

Diagnosis of galactokinase deficiency Evaluation of children with unexplained bilateral congenital or juvenile onset cataracts

INAB - Overview: Insulin Antibodies, Serum

Predicting the future development of type 1 diabetes in asymptomatic children, adolescents, and young adults, when used in conjunction with family history, human leukocyte antigen-typing, and other autoantibodies, including glutamic acid...

MRDMR - Overview: Multiple Myeloma Minimal Residual Disease by Flow Cytometry, Bone Marrow

Detecting low level (minimal residual disease) myeloma cells after therapy to confirm remission has been achieved

SSA - Overview: SS-A/Ro Antibodies, IgG, Serum

Evaluating patients at-risk for connective tissue disease with or without interstitial lung disease Detection of both anti-SS-A 52 (Ro52) and SS-A 60 (Ro60) antibodies in serum

CUT - Overview: Copper, Liver Tissue

Diagnosing Wilson disease and primary biliary cirrhosis using liver tissue specimens

TQ10 - Overview: Coenzyme Q10, Total, Plasma

Diagnosis of primary coenzyme Q10 (CoQ10) deficiencies in some patients who are not supplemented with CoQ10 Monitoring patients receiving statin therapy Monitoring CoQ10 status during treatment of various degenerative conditions,...

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

DRPL - Overview: Dentatorubral-Pallidoluysian Atrophy (DRPLA) Gene Analysis, Varies

Confirming the diagnosis of dentatorubral-pallidoluysian atrophy (DRPLA) for symptomatic patients Predictive testing for individuals with a family history of DRPLA and a documented expansion in the ATN1 gene in an affected family member

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

PLPMA - Overview: Prolactin, Pituitary Macroadenoma, Serum

Quantifying prolactin in serum specimens where the high-dose hook effect is suspected (eg, presence of pituitary tumor with symptoms of prolactinoma, and lower than expected serum prolactin concentration)

PKUBS - Overview: Phenylalanine and Tyrosine, Blood Spot

Monitoring effectiveness of therapy in patients with hyperphenylalaninemia This test is not sufficient for follow-up for abnormal newborn screening results or for establishing a diagnosis of a specific cause of hyperphenylalaninemia

PKUSC - Overview: Phenylalanine and Tyrosine, Self-Collect, Blood Spot

Monitoring effectiveness of therapy in patients with hyperphenylalaninemia in a patient-collected specimen This test is not sufficient for follow-up for abnormal newborn screening results or for establishing a diagnosis of a specific...

VWFMS - Overview: von Willebrand Factor Multimer Analysis, Plasma

Resolving discrepancies when results of complementary laboratory tests (eg, F8A / Coagulation Factor VIII Activity Assay, Plasma; VWACT / von Willebrand Factor Activity, Plasma; and VWAG / von Willebrand Factor Antigen, Plasma) are...

SRAU - Overview: Serotonin Release Assay, Unfractionated Heparin, Mass Spectrometry, Serum

Detecting heparin-dependent platelet activating antibodies implicated in the pathogenesis of heparin-induced thrombocytopenia

INHA - Overview: Inhibin A, Tumor Marker, Serum

Aiding in the diagnosis of patients with granulosa cell tumors of the ovary when used in combination with inhibin B Monitoring of patients with granulosa cell tumors and epithelial mucinous-type tumors of the ovary known to secrete inhibin...

CTX - Overview: Beta-CrossLaps, Serum

Monitoring antiresorptive therapies (eg, bisphosphonates and hormone replacement therapy) in postmenopausal women treated for osteoporosis and individuals diagnosed with osteopenia An adjunct in the diagnosis of medical conditions...

CHRTI - Overview: Chromosome Analysis, Skin Biopsy

Diagnosis of mosaic congenital chromosome abnormalities, including mosaic aneuploidy and mosaic structural abnormalities Subsequent chromosome analysis when results from peripheral blood are inconclusive

199PT - Overview: Carbohydrate Antigen 19-9 (CA 19-9), Peritoneal Fluid

An adjunct to cytology to differentiate between malignancy-related ascites and benign causes of ascites formation

VWAG - Overview: von Willebrand Factor Antigen, Plasma

Diagnosis of von Willebrand disease (VWD) and differentiation of VWD subtype (in conjunction with von Willebrand factor ristocetin cofactor activity and factor VIII coagulant activity) Differentiation of VWD from hemophilia A (in...

VLCZ - Overview: Very Long Chain Acyl-CoA Dehydrogenase Deficiency, Full Gene Analysis, Varies

Confirmation of a diagnosis of very long chain acyl-CoA dehydrogenase (VLCAD) deficiency Carrier screening in cases where there is a family history of VLCAD deficiency, but an affected individual is not available for testing or...

PRA - Overview: Renin Activity, Plasma

Investigation of primary aldosteronism (eg, adrenal adenoma/carcinoma and adrenal cortical hyperplasia) and secondary aldosteronism (renovascular disease, salt depletion, potassium loading, cardiac failure with ascites, pregnancy, Bartter...

HL58R - Overview: HLA-B*5801 Genotype, Allopurinol Hypersensitivity, Varies

Identifying individuals with an increased risk of severe cutaneous adverse reactions to allopurinol based on the presence of the human leukocyte antigen HLA-B*58:01 allele

JO1 - Overview: Jo 1 Antibodies, IgG, Serum

Evaluating patients with clinical features of idiopathic inflammatory myositis, especially those with clinical features suggestive of anti-synthetase syndrome or interstitial lung disease

Q10 - Overview: Coenzyme Q10, Reduced and Total, Plasma

Diagnosis of primary coenzyme Q10 (CoQ10) deficiencies in some patients who are not supplemented with CoQ10 Diagnosis of CoQ10 deficiency in mitochondrial disorders Monitoring CoQ10 status during treatment of various degenerative...

RO52 - Overview: Ro52 Antibody, IgG, Serum

Evaluating patients at risk for connective tissue disease with or without interstitial lung disease Differentiating single vs double positivity for Ro52 and Ro60 antibodies in combination with anti-Ro60

RO60 - Overview: Ro60 Antibody, IgG, Serum

Evaluating patients at risk for connective tissue disease with or without interstitial lung disease Differentiating single vs double positivity for Ro52 and Ro60 antibodies in combination with anti-Ro60

AVWPQ - Overview: von Willebrand Disease Profile Interpretation

Interpretation of testing performed as part of a profile for detection of deficiency or abnormality of von Willebrand factor (VWF) and related deficiency of factor VIII coagulant activity Interpretation of testing performed as part of a...

AVWPI - Overview: von Willebrand Disease Profile Technical Interpretation

Technical interpretation of the von Willebrand factor profile test Detection of deficiency or abnormality of von Willebrand factor and related deficiency of factor VIII coagulant activity Subtyping von Willebrand disease (VWD) as type 1...

HSVC - Overview: Herpes Simplex Virus (HSV), Molecular Detection, PCR, Spinal Fluid

Aiding in the rapid diagnosis of herpes simplex virus (HSV)-1 and HSV-2 infections of the central nervous system

IDHQ - Overview: IDH1 (R132) and IDH2 (R140 and R172) Quantitative Detection, Droplet Digital PCR, Varies

Detecting IDH1 R132 and IDH2 R140 and R172 mutations in acute myeloid leukemia patients at the time of diagnosis to guide targeted therapy Monitoring minimal residual disease during the clinical and therapeutic course

BMAMA - Overview: Basic Metabolic Panel, Serum

Routine health monitoring or patient monitoring while hospitalized for information regarding metabolism, including the current kidney status, electrolyte, and acid/base balance, and blood glucose

NSESF - Overview: Neuron-Specific Enolase (NSE), Spinal Fluid

An auxiliary test in the diagnosis of Creutzfeldt-Jakob disease An auxiliary test in the diagnosis of small cell lung carcinoma metastasis to central nervous system or leptomeninges

STSH - Overview: Thyroid-Stimulating Hormone-Sensitive (s-TSH), Serum

Screening for thyroid dysfunction and detecting mild (subclinical), as well as overt, primary hypo- or hyperthyroidism in ambulatory patients Monitoring patients on thyroid replacement therapy Confirmation of thyrotropin (TSH, formerly...

DDITT - Overview: D-Dimer, Plasma

Excluding the diagnosis of acute pulmonary embolism or deep vein thrombosis, particularly when results of a sensitive D-dimer assay are combined with clinical information, including pretest disease probability(1-4) Diagnosis of...

VWD8B - Overview: von Willebrand Disease 2N (Subtype Normandy), Plasma

Diagnosing von Willebrand disease (VWD) type 2N Evaluating patients diagnosed with mild-to-moderate hemophilia A with an autosomal inheritance pattern Evaluating hemophilia A patients with a shortened survival of infused factor VIII...

HELIS - Overview: Helicobacter pylori Culture with Antimicrobial Susceptibilities, Varies

Recovery of Helicobacter pylori from gastric specimens for antimicrobial susceptibility testing of the organism (amoxicillin, clarithromycin, levofloxacin, metronidazole, rifampin, and tetracycline are routinely tested)

ATTI - Overview: Antithrombin Antigen, Plasma

Assessing abnormal results of the antithrombin activity assay (ATTF / Antithrombin Activity, Plasma), the recommended primary (screening) antithrombin assay Diagnosing antithrombin deficiency, acquired or congenital, in conjunction with...

RTQPC - Overview: Abnormal Prion Protein, Real-Time Quaking Induced Conversion, Spinal Fluid

Aiding in diagnosing sporadic Creutzfeldt-Jakob disease or other prion disease in patients with a rapidly progressive dementia

MGMT - Overview: MGMT Promoter Methylation, Tumor

Prognostication of newly diagnosed patients with glioblastoma, IDH-wildtype Identifying newly diagnosed glioblastoma, IDH-wildtype patients that may respond to alkylating chemotherapy (ie, temozolomide) Guiding therapy decision making for...

ML1HM - Overview: MLH1 Hypermethylation Analysis, Tumor

An adjunct to TMSI / Microsatellite Instability, Tumor and IHC / Mismatch Repair (MMR) Protein Immunohistochemistry Only, Tumor when colon or endometrial tumor demonstrates microsatellite instability (MSI-H) and loss of MLH1 protein...

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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...

Alpha_1_Antitrypsin.indd

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 ......