BMIPB - Overview: Borrelia miyamotoi Detection, PCR, Blood
Aiding in the diagnosis of Borrelia miyamotoi infection in conjunction with clinical findings Preferred method for detection of B miyamotoi using blood specimens
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...
PLFA - Overview: Cryptococcus Antigen Screen, Lateral Flow Assay, Pleural Fluid
Diagnosis of infection with Cryptococcus species
TYRSC - Overview: Tyrosinemia Follow-Up Panel, Self-Collect, Blood Spot
Monitoring of individuals with tyrosinemia type I (hepatorenal tyrosinemia) using a patient-collected specimen
FFRBS - Overview: Friedreich Ataxia, Frataxin, Quantitative, Blood Spot
Diagnosing individuals with Friedreich ataxia in blood spot specimens Monitoring frataxin levels in patients with Friedreich ataxia This test is not useful for carrier detection.
MPS3W - Overview: Mucopolysaccharidosis III, Four-Enzyme Panel, Leukocytes
Supporting the biochemical diagnosis of mucopolysaccharidoses types IIIA, IIIB, IIIC, IIID This test is not useful for carrier detection.
GAAW - Overview: Acid Alpha-Glucosidase, Leukocytes
Diagnosis of Pompe disease
AMPIP - Overview: Amyloid Protein Identification, Paraffin, Mass Spectrometry
Definitive identification of amyloid proteins
WASEQ - Overview: Alpha Globin Gene Sequencing, Varies
Diagnosing nondeletional alpha thalassemia Testing for nondeletional alpha thalassemia in a symptomatic individual Follow-up testing to an abnormal hemoglobin electrophoresis that identified an alpha-globin chain variant
ALLOI - Overview: Allo-isoleucine, Blood Spot
Evaluation of newborn screening specimens that test positive for branched-chain amino acids elevations Follow-up of patients with maple syrup urine disease
BTDZ - Overview: Biotinidase Deficiency, BTD Full Gene Analysis, Varies
Second-tier test for confirming biotinidase deficiency (indicated by biochemical testing or newborn screening) Carrier testing of individuals with a family history of biotinidase deficiency, but disease-causing mutations have not been...
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
CITR - Overview: Citrate Excretion, 24 Hour, Urine
Diagnosing risk factors for patients with calcium kidney stones Monitoring results of therapy in patients with calcium stones or renal tubular acidosis
CORTU - Overview: Cortisol, Free, 24 Hour, Urine
Preferred screening test for Cushing syndrome Diagnosis of pseudo-hyperaldosteronism due to excessive licorice consumption Test may not be useful in the evaluation of adrenal insufficiency.
CTXP - Overview: Cerebrotendinous Xanthomatosis, Plasma
Evaluating patients with a clinical suspicion of cerebrotendinous xanthomatosis (CTX) using plasma specimens Monitoring of individuals with CTX on chenodeoxycholic acid (CDCA) therapy This test is not useful for the identification of...
AATTA - Overview: Antithrombin Summary Interpretation
Diagnosis of antithrombin deficiency, acquired or congenital Monitoring treatment of antithrombin deficiency disorders, including infusion of antithrombin therapeutic concentrate
PAI1 - Overview: Plasminogen Activator Inhibitor Antigen, Plasma
Identification of heredity elevation or deficiency of plasminogen activator inhibitor type 1 Determination of risk for veno-occlusive disease associated with bone marrow transplantation Differential diagnosis of impaired fibrinolysis...
HIP12 - Overview: HIV-1/HIV-2 RNA Detection, Plasma
Diagnosis of HIV-1 and/or HIV-2 infection in individuals with indeterminate or inconclusive HIV serologic test results Diagnosis of HIV-1 and/or HIV-2 infection in individuals with acute or early HIV-1 and/or HIV-2 infection Diagnosis of...
UBT - Overview: Helicobacter pylori Breath Test
Diagnostic testing for Helicobacter pylori infection in patients suspected to have active H pylori infection Monitoring response to therapy This test is not appropriate for asymptomatic people.
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)
Producing cell cultures that can be used for enzymatic or molecular genetic analysis
ATTF - Overview: Antithrombin Activity, Plasma
Diagnosis of antithrombin deficiency, acquired or congenital Monitoring treatment of antithrombin deficiency disorders, including infusion of antithrombin therapeutic concentrate
MSDBS - Overview: Multiple Sulfatase Deficiency, Blood Spot
Supporting the biochemical diagnosis of multiple sulfatase deficiency This test is not useful for carrier detection.
NMHR - Overview: N-Methylhistamine, Random, 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 random urine specimens Monitoring therapeutic progress in...
STRC - Overview: Standard Renal Clearance, Plasma and Random Urine
Precise measurement of glomerular filtration rate and renal plasma flow
MPU - Overview: Monoclonal Protein Studies, 24 Hour, Urine
Monitoring patients with monoclonal gammopathies
MTDNX - Overview: Methadone Confirmation, Chain of Custody, Random, Urine
Monitoring for compliance of methadone treatment for analgesia or drug rehabilitation Assessing compliance with rehabilitation programs Chain of custody is required whenever the results of testing could be used in a court of law. Its...
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...
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...
COCOU - Overview: Cortisol/Cortisone, Free, 24 Hour, Urine
Screening test for Cushing syndrome (hypercortisolism) Assisting in diagnosing acquired or inherited abnormalities of 11-beta-hydroxy steroid dehydrogenase (cortisol to cortisone ratio) Diagnosis of pseudo-hyperaldosteronism due to...
NCLBS - Overview: Neuronal Ceroid Lipofuscinosis, Two-Enzyme Panel, Blood Spot
Supporting the biochemical diagnosis of two neuronal ceroid lipofuscinoses, CLN1 and CLN2 This test is not useful for carrier detection.
TALDO - Overview: Polyols, Quantitative, Urine
Diagnosing deficiencies of transaldolase, transketolase, sedoheptulose, or ribose-5-phosphate isomerase
MPS4W - Overview: Mucopolysaccharidosis IV Enzyme Panel, Leukocytes
Supporting the biochemical diagnosis of mucopolysaccharidosis type IVA and IVB in whole blood specimens This test is not useful for carrier detection.
CSFME - Overview: Meningitis/Encephalitis Pathogen Panel, PCR, Spinal Fluid
Rapid detection of meningitis and encephalitis caused by: -Escherichia coli K1 (K1 serotype only) -Haemophilus influenzae -Listeria monocytogenes -Neisseria meningitidis (encapsulated strains only) -Streptococcus agalactiae (Group B...
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)
GPSY - Overview: Glucopsychosine, Blood Spot
Second-tier test when newborn screening results with reduced beta-glucosidase (GBA) activity are identified Diagnosis and monitoring of patients with Gaucher disease using dried blood spot specimens Monitoring a patient's response to...
Second-tier testing of newborns with an abnormal primary screening result for mucopolysaccharidosis type I (MPS I) (decreased alpha-L-iduronidase activity) Follow-up testing for evaluation of an abnormal newborn screening result for MPS...
Second-tier testing of newborns with an abnormal primary screening result for mucopolysaccharidosis type II (MPS II, decreased iduronate-2-sulfatase) Follow-up testing for evaluation of an abnormal newborn screening result for MPS II This...
FAO - Overview: Fatty Acid Oxidation Probe Assay, Fibroblast Culture
In vitro confirmation of biochemical diagnoses of the following fatty acid oxidation disorders: -Short-chain acyl-CoA dehydrogenase deficiency -Medium-chain acyl-CoA dehydrogenase deficiency -Long-chain 3-hydroxyacyl-CoA dehydrogenase...
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.
AATTF - Overview: Antithrombin Activity, with Reflex to Antithrombin Antigen, Plasma
Diagnosis of antithrombin deficiency, acquired or congenital
WBGDD - Overview: Beta-Globin Gene Cluster, Deletion/Duplication, Varies
Determining the etiology of hereditary persistence of fetal hemoglobin (HPFH), delta-beta thalassemia, or other large deletions involving the beta-globin gene cluster Diagnosing less common causes of beta thalassemia; these large...
ABOPC - Overview: Arbovirus Antibody Panel, IgG and IgM, Spinal Fluid
Aiding in the diagnosis of arboviral encephalitis (California [LaCrosse], St Louis, Eastern equine, and Western equine encephalitis)
ANAES - Overview: Bacterial Culture, Anaerobic with Antimicrobial Susceptibilities, Varies
Diagnosing anaerobic bacterial infections Directing antimicrobial therapy for anaerobic infections
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...
BRMLH - Overview: MLH1 Hypermethylation and BRAF Mutation Analysis, Tumor
An adjunct to MSI / Microsatellite Instability (MSI), Tumor and IHC / Mismatch Repair (MMR) Protein Immunohistochemistry Only, Tumor testing, when colon tumor demonstrates microsatellite instability (MSI-H) and loss of MLH1 protein...
CCFR - Overview: Cortisol/Cortisone, Free, Random, Urine
Investigating suspected Cushing syndrome (hypercortisolism), when a 24-hour collection is prohibitive (ie, pediatric patients). Assisting in diagnosing acquired or inherited abnormalities of 11-beta-hydroxy steroid dehydrogenase (cortisol...
EPCRB - Overview: Ehrlichia/Anaplasma, Molecular Detection, PCR, Blood
Evaluating patients suspected of acute anaplasmosis or ehrlichiosis This test should not be used for screening asymptomatic individuals.
GALTP - Overview: Galactose-1-Phosphate Uridyltransferase Biochemical Phenotyping, Erythrocytes
Determining the biochemical phenotype for galactosemia when enzymatic and molecular results are incongruent
sequential-maternal-serum-screening-testing-algorithm.pdf
Foundation for Medical Education and Research (MFMER). All rights reserved. Sequential Maternal Serum Screening Testing Algorithm Diagnostic testing should be offered Screen-positive: results reported...
MCL Platelet Antibody Screen Serum Information MC1235242
MCL Platelet Antibody Screen Serum Information Complete print Platelet Antibody Screen Serum Patient Information Reset Form Patient Information Patient Middle Birth Date...
Mayo Clinic Laboratory and Pathology Research Roundup: Nov. 26 - Insights
This week’s Research Roundup highlights the effect of inorganic nitrite versus a placebo on exercise capacity among patients with heart failure with preserved ejection fraction....
Gravis/Lambert-Eaton Myasthenic Syndrome Evaluation, Serum
Confirming the autoimmune basis of a defect in neuromuscular transmission (eg, myasthenia gravis [MG], Lambert-Eaton myasthenic syndrome [LEMS]) Distinguishing LEMS from autoimmune forms of MG Providing a quantitative autoantibody...
Atypical Hemolytic Uremic Syndrome Complement Panel, Serum and Plasma
Detecting deficiencies in the alternative pathway that can cause atypical-hemolytic uremic syndrome, dense deposit disease, and C3 glomerulonephritis A second-tier test that aids in the differential diagnosis of thrombotic...