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Test Catalog
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.
FFCAH - Overview: Congenital Adrenal Hyperplasia (CAH) Pediatric Profile 6, Comprehensive Screen
Congenital Adrenal Hyperplasia (CAH) Pediatric Profile 6, Comprehensive Screen
LH - Overview: Luteinizing Hormone (LH), Serum
An adjunct in the evaluation of menstrual irregularities Evaluating patients with suspected hypogonadism Predicting ovulation Evaluating infertility Diagnosing pituitary disorders
TCGR - Overview: T-Cell Receptor Gene Rearrangement, PCR, Blood
Determining whether a T-cell population is polyclonal or monoclonal using blood specimens
FCDSU - Overview: Comprehensive Drug Screen, Umbilical Cord Tissue
Comprehensive Drug Screen, Umbilical Cord Tissue
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
FUFXS - Overview: Fragile X, Follow-up Analysis
Confirming the methylation status of the repeat expansion allele in the FMR1 gene, to aid the diagnosis of FMR1-related disorders
WESMT - Overview: Whole Exome and Mitochondrial Genome Sequencing, Varies
Serving as a first-tier test to identify a molecular and/or mitochondrial diagnosis in patients with suspected genetic disorders, which can allow for: -Better understanding of the natural history/prognosis -Targeted management (anticipatory...
TALPF - Overview: T-Cell Acute Lymphoblastic Leukemia/Lymphoma (ALL), FISH, Pediatric, Varies
Detecting, at diagnosis, recurrent common chromosome abnormalities associated with T-cell acute lymphoblastic leukemia/lymphoma (T-ALL) in pediatric/young adult patients As an adjunct to conventional chromosome studies in pediatric/young...
ALBLD - Overview: Bleeding Diathesis Profile, Limited, Plasma
Detection of the more common potential causes of abnormal bleeding (eg, factor deficiencies/hemophilia, von Willebrand disease, factor-specific inhibitors) and a simple screen to evaluate for an inhibitor or severe deficiency of factor XIII...
FCDU4 - Overview: Novel Psychoactives, Umbilical Cord Tissue
Novel Psychoactives, Umbilical Cord Tissue
ARBI - Overview: Acetylcholine Receptor (Muscle AChR) Binding Antibody, Serum
Supporting the diagnosis of 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 An adjunct...
GUSBB - Overview: Beta-Glucuronidase, Blood Spot
Supporting the biochemical diagnosis of mucopolysaccharidosis VII (MPS VII, Sly syndrome) This test is not useful for determining carrier status for MPS VII.
ARSBW - Overview: Arylsulfatase B, Leukocytes
Supporting the biochemical diagnosis of mucopolysaccharidosis type VI (MPS VI, Maroteaux-Lamy syndrome) in whole blood specimens This test is not useful for carrier detection.
NCLW - Overview: Neuronal Ceroid Lipofuscinosis, Two-Enzyme Panel, Leukocytes
Supporting the biochemical diagnosis of two neuronal ceroid lipofuscinoses, CLN1 and CLN2 in whole blood specimens This test is not useful for carrier detection.
LHPED - Overview: Luteinizing Hormone (LH), Pediatrics, Serum
Diagnosis of precocious puberty and delayed puberty in children
MSDW - Overview: Multiple Sulfatase Deficiency, Leukocytes
Supporting the biochemical diagnosis of multiple sulfatase deficiency in whole blood specimens This test is not useful for carrier detection.
TCGRV - Overview: T-Cell Receptor Gene Rearrangement, PCR, Varies
Determining whether a T-cell population is polyclonal or monoclonal using body fluid or tissue specimens
TCGBM - Overview: T-Cell Receptor Gene Rearrangement, PCR, Bone Marrow
Determining whether a T-cell population is polyclonal or monoclonal
GLP - Overview: Glucagon, Plasma
Diagnosis and follow-up of glucagonomas and other glucagon-producing tumors Assessing diabetic patients with problematic hyper- or hypoglycemic episodes (extremely limited utility)
PWAS - Overview: Prader-Willi/Angelman Syndrome, Molecular Analysis, Varies
Confirmation of diagnosis in patients suspected of having either Prader-Willi syndrome (PWS) or Angelman syndrome (AS) based on clinical assessment or previous laboratory analysis Prenatal diagnosis in families at risk for PWS or AS
G6PD1 - Overview: Glucose 6-Phosphate Dehydrogenase Enzyme Activity, Blood
Evaluation of individuals with episodic or chronic Coombs-negative nonspherocytic hemolytic anemia Rapid testing to assess glucose 6-phosphate dehydrogenase (G6PD) enzyme capacity prior to rasburicase or other therapies that may cause...
SCARA - Overview: Spinocerebellar Ataxia Type 1, 2, 3, 6, or 7, Repeat Expansion Analysis, Varies
Diagnostic or predictive testing when clinical symptoms or a family history are specific to only one type of spinocerebellar ataxia
NEPHP - Overview: Comprehensive Nephrology Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of hereditary kidney disease Establishing a diagnosis for a variety of hereditary kidney conditions including focal segmental glomerulosclerosis,...
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...
PSYCF - Overview: Psychosine, Spinal Fluid
Aiding in the biochemical diagnosis of Krabbe disease using cerebrospinal fluid specimens Follow-up of individuals affected with Krabbe disease Follow-up testing after an abnormal newborn screening result for Krabbe disease Monitoring...
LRBA - Overview: Lipopolysaccharide-Responsive Beige-Like Anchor Protein (LRBA) Deficiency, Blood
Aiding in the diagnosis of lipopolysaccharide-responsive beige-like anchor protein (LRBA) deficiency This test is not useful for identifying a carrier status for LRBA deficiency.
SSCTU - Overview: S-Sulfocysteine Panel, Urine
Diagnosis of molybdenum cofactor deficiency, isolated sulfite oxidase deficiency, and hereditary xanthinuria Monitoring patients with molybdenum cofactor deficiency or isolated sulfite oxidase deficiency who are on treatment
AATHR - Overview: Thrombophilia Profile, Plasma and Whole Blood
Evaluating patients with thrombosis or hypercoagulability states Detecting a lupus-like anticoagulant; dysfibrinogenemia; disseminated intravascular coagulation/intravascular coagulation and fibrinolysis Detecting a deficiency of...
QMPSS - Overview: Monoclonal Protein Study, Quantitative, Serum
Aiding in the diagnosis and monitoring of monoclonal gammopathies, when used in conjunction with free light chain studies This test alone is not considered an adequate screen for monoclonal gammopathies.
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...
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.
WESDX - Overview: Whole Exome Sequencing for Hereditary Disorders, Varies
Serving as a first-tier test to identify a molecular diagnosis in patients with suspected genetic disorders, which can allow for: -Better understanding of the natural history/prognosis -Targeted management (anticipatory guidance, management...
TCP - Overview: T-Cell Subsets, Naive, Memory, and Activated, Blood
Determining the presence of naive, memory, and activated T cells in various clinical contexts including autoimmune diseases, immunodeficiency states, T-cell recovery post-hematopoietic stem cell transplant, DiGeorge syndrome, and as a...
Assessing cytomegalovirus (CMV)-specific immune competence in allo-hematopoietic stem cell transplantation patients who are at risk for developing late CMV disease (beyond day 100 after transplant) Assessing CMV-specific immune competence...
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.
Producing cell cultures that can be used for enzymatic or molecular genetic analysis
MSDBS - Overview: Multiple Sulfatase Deficiency, Blood Spot
Supporting the biochemical diagnosis of multiple sulfatase deficiency This test is not useful for carrier detection.
3MT - Overview: 3-Methoxytyramine, 24 Hour, Urine
A first- and second-tier screening test for the presumptive diagnosis of catecholamine-secreting pheochromocytomas and paragangliomas Testing in conjunction or as an alternative to plasma metanephrines (PMET / Metanephrines, Fractionated,...
OIBFG - Overview: Osteogenesis Imperfecta and Bone Fragility Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive osteogenesis imperfecta and other hereditary conditions associated with bone fragility
PNEFS - Overview: Neuroimmunology Antibody Follow-up, Serum
Monitoring patients who have previously tested positive for one or more antibodies within the past 5 years in a Mayo Clinic Laboratories serum evaluation
Evaluating for chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) and related demyelinating peripheral neuropathies
GPSYP - Overview: Glucopsychosine, Plasma
Second-tier test when newborn screening results with reduced beta-glucosidase (GBA) activity are identified Diagnosis and monitoring of patients with Gaucher disease using plasma specimens Supporting a biochemical diagnosis of Gaucher...
PSYR - Overview: Psychosine, Whole Blood
Aiding in the biochemical diagnosis of Krabbe disease using whole blood specimens Follow-up of individuals affected with Krabbe disease Follow-up testing after an abnormal newborn screening result for Krabbe disease Monitoring of...
PMMIL - Overview: Phosphomannomutase and Phosphomannose Isomerase, Leukocytes
Diagnosing congenital disorders of glycosylation Ia (phosphomannomutase-2 deficiency: PMM2-CDG) and Ib (phosphomannose isomerase deficiency: MPI-CDG) as measured in leukocytes Follow-up testing for patients with an abnormal type I CDG...
SFX - Overview: Protein S Activity, Plasma
Second-order testing for diagnosis of congenital or acquired protein S deficiency, ie, as an adjunct to initial testing based on results of protein S antigen assay (free protein S antigen, with or without total protein S antigen assay)...
GPSYW - Overview: Glucopsychosine, Blood
Second-tier test when newborn screening results with reduced beta-glucosidase (GBA) activity are identified Diagnosis and monitoring of patients with Gaucher disease using whole blood specimens Supporting the biochemical diagnosis of...
Predicting risk for statin-associated myopathy in patients beginning statin therapy, especially simvastatin therapy Determining a potential statin lipid lowering response, especially when using pravastatin
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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...
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...
lysosomal_storage_disorders_diagnostic_algorithm__part_1.pdf
Order: IDUAW / Alpha-L-Iduronidase, Leukocytes Order 1 of the following: ■ BGA / Beta-Galactosidase, Leukocytes ■ MPS4B ■ MPS4W Order: FUCW / Alpha-Fucosidase, Leukocytes Order 1 of the following: MPS4W...