LPMGF - Overview: Lymphocyte Proliferation to Mitogens, Blood
Assessing T-cell function in patients on immunosuppressive therapy, including solid-organ transplant patients Evaluating patients suspected of having impairment in cellular immunity Evaluation of T-cell function in patients with primary...
PDGP - Overview: Peroxisomal Disorder Gene Panel, Varies
Follow up of abnormal biochemical result, usually very long-chain fatty acid test consistent with peroxisomal disorder Establishing a molecular diagnosis for patients with peroxisomal disorders Identifying variants within genes known to...
Providing a genetic evaluation for patients with a personal or family history suggestive of atypical hemolytic uremic syndrome (aHUS), thrombotic microangiopathy (TMA), or complement 3 glomerulopathy (C3G) Establishing a diagnosis of...
CHLGP - Overview: Cholestasis Gene Panel, Varies
Establishing a molecular diagnosis for patients with monogenic cholestasis Identifying variants within genes known to be associated with primary, monogenic cholestasis, allowing for predictive testing of at-risk family members This panel...
NHEM - Overview: Hereditary Erythrocytosis Focused Gene Panel, Next-Generation Sequencing, Varies
Focused evaluation of an individual with JAK2-V617F negative erythrocytosis associated with lifelong sustained increased red blood cell (RBC) mass, hemoglobin, or hematocrit Providing a focused genetic evaluation for patients with a...
A second-level test after lymphocyte proliferation to mitogens (specifically phytohemagglutinin) has been assessed Evaluating patients suspected of having impairment in cellular immunity Evaluation of T-cell function in patients with...
SNS - Overview: Supplemental Newborn Screen, Blood Spot
Presymptomatic identification of disorders to allow for early initiation of treatment and consequent improvement in the long-term prognosis of affected patients The conditions identifiable by amino acid and acylcarnitine analysis are...
NHEP - Overview: Hereditary Erythrocytosis Gene Panel, Next-Generation Sequencing, Varies
Evaluating an individual with JAK2-V617F negative erythrocytosis associated with lifelong sustained increased red blood cell (RBC) mass, elevated RBC count, hemoglobin, or hematocrit Providing an extensive genetic evaluation for patients...
LDALD - Overview: Lysosomal and Peroxisomal Disorders Newborn Screen, Blood Spot
First-tier newborn screen for the lysosomal disorders: Fabry, Gaucher, Krabbe, mucopolysaccharidosis I (MPS I) and II (MPS II), infantile neurovisceral or chronic visceral acid sphingomyelinase deficiency, and Pompe (glycogen storage...
Screening for common variable immunodeficiency and hyper-IgM syndromes Assessing B-cell subset reconstitution after stem cell or bone marrow transplant Assessing response to B-cell-depleting immunotherapy This test is not indicated...
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...