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
AATTA - Overview: Antithrombin Summary Interpretation
Diagnosis of antithrombin deficiency, acquired or congenital Monitoring treatment of antithrombin deficiency disorders, including infusion of antithrombin therapeutic concentrate
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...
PLFA - Overview: Cryptococcus Antigen Screen, Lateral Flow Assay, Pleural Fluid
Diagnosis of infection with Cryptococcus species
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.
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...
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...
Evaluation with Muscle-Specific Kinase (MuSK) Reflex, Serum
Diagnosing autoimmune myasthenia gravis (MG) in adults and children Distinguishing autoimmune from congenital MG in adults and children or other acquired forms of neuromuscular junction transmission disorders Establishing a quantitative...