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Test Catalog

TCRB - Overview: T-Cell Receptor V-Beta Repertoire Analysis, Spectratyping, Blood

Assessment of T-cell receptor diversity in various clinical contexts including inborn errors of immunity (formerly primary immunodeficiencies), monitoring immune reconstitution post-hematopoietic stem cell transplantation, and temporal...

PLSD - Overview: Lysosomal and Peroxisomal Disorders Screen, Blood Spot

Evaluation of patients with a clinical presentation suggestive of a lysosomal disorder, specifically Gaucher, infantile neurovisceral or chronic visceral acid sphingomyelinase deficiency, Pompe, Krabbe, or Fabry disease, or...

SMNDX - Overview: Spinal Muscular Atrophy Diagnostic Assay, Deletion/Duplication Analysis, Varies

First-tier newborn screening for spinal muscular atrophy (SMA) Prenatal testing for SMA Diagnostic testing to confirm a suspected diagnosis of SMA

MANN - Overview: Alpha-Mannosidase, Leukocytes

Diagnosis of alpha-mannosidosis This test is not useful for establishing carrier status for alpha-mannosidosis.

AMBF - Overview: Amylase, Body Fluid

Evaluation of patients with a pathological accumulation of fluid to determine whether pancreatic inflammation, pancreatic fistula, or esophageal rupture may be contributing Aiding in the diagnosis of pancreatitis

FUCW - Overview: Alpha-Fucosidase, Leukocytes

Detection of fucosidosis This test is not useful for establishing carrier status for fucosidosis.

APOLB - Overview: Apolipoprotein B, Serum

Assessment of cardiovascular risk Follow-up studies in individuals with basic lipid measures inconsistent with risk factors or clinical presentation Definitive studies of cardiac risk factors in individuals with significant family...

BAP - Overview: Bone Alkaline Phosphatase, Serum

Diagnosis and assessment of severity of metabolic bone disease including Paget disease, osteomalacia, and other states of high bone turnover Monitoring efficacy of antiresorptive therapies including postmenopausal osteoporosis treatment...

C8FX - Overview: C8 Complement, Functional, Serum

Diagnosis of C8 deficiency Investigation of a patient with an undetectable total hemolytic complement level

C1ES - Overview: C1 Esterase Inhibitor Antigen, Serum

Diagnosis of hereditary angioedema Monitoring levels of C1 esterase inhibitor in response to therapy

IODCU - Overview: Iodine/Creatinine Ratio, Random, Urine

Assessment of iodine toxicity or recent iodine exposure using a random urine collection Monitoring iodine excretion rate as index of replacement therapy

HAEVI - Overview: Hemolytic Anemia Interpretation

Interpretation of the results for the evaluation of hemolytic anemia Evaluation of lifelong or inherited hemolytic anemias, including red cell membrane disorders, unstable or abnormal hemoglobin variants, and red cell enzyme disorders

PINP - Overview: Procollagen I Intact N-Terminal, Serum

Aiding in monitoring antiresorptive and anabolic therapy in patients with osteoporosis An adjunct in the assessment of conditions associated with increased bone turnover, such as Paget disease This test should not be used as a screening...

P40NA - Overview: p40 + Napsin A Immunostain, Technical Component Only

p40 aids in the classification of carcinomas and lymphomas Napsin A aids in the identification of primary lung adenocarcinoma

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

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

SLEG - Overview: Legionella pneumophila (Legionnaires Disease), Antibody, Serum

Evaluating possible legionellosis (Legionnaires disease, Pontiac fever, extrapulmonary legionella infection caused by Legionella pneumophila)

KRTAE - Overview: Keratin (AE1/AE3) Immunostain, Technical Component Only

Identification of cells expressing a broad spectrum of cytokeratins (low and high molecular weight keratins)

SGSU - Overview: Synthetic Glucocorticoid Screen, Random, Urine

Confirming the presence of the listed synthetic glucocorticoids Confirming the cause of secondary adrenal insufficiency

MTDNU - Overview: Methadone Confirmation, Random, Urine

Monitoring for compliance of methadone treatment for analgesia or drug rehabilitation Assessing compliance with rehabilitation programs by urine measurement of 2-ethylidene-1,5-dimethyl-3,3-diphenylpyrrolidine

BNZX - Overview: Benzodiazepines Confirmation, Chain of Custody, Random, Urine

Detecting drug use involving benzodiazepines such as alprazolam, chlordiazepoxide, clonazepam, diazepam, midazolam, oxazepam, temazepam, clobazam, flunitrazepam, flurazepam, lorazepam, prazepam, triazolam, and zolpidem, in urine specimens...

BGA - Overview: Beta-Galactosidase, Leukocytes

Aiding in the diagnosis of GM1 gangliosidosis, Morquio B disease, and galactosialidosis This test is not suitable for carrier detection.

HIF2A - Overview: Hypoxia-Inducible Factor Alpha (EPAS1/HIF2A) Gene, Exons 9 and 12 Sequencing, Whole Blood

Assessing HIF2A/EPAS1 in the evaluation of an individual with JAK2-negative erythrocytosis associated with lifelong sustained increased red blood cell (RBC) mass, elevated RBC count, hemoglobin, or hematocrit

LIVPR - Overview: Liver Profile, Serum

Screening for liver damage, especially if someone has a condition or is taking a drug that may affect the liver

17OHP - Overview: 17-Hydroxypregnenolone, Serum

As an ancillary test for congenital adrenal hyperplasia (CAH), particularly in situations in which a diagnosis of both 21- and 11-hydroxylase deficiency have been ruled out Confirming a diagnosis of 3-beta-hydroxysteroid dehydrogenase...

1A2Q - Overview: Cytochrome P450 1A2 Genotype, Varies

Identifying individuals who are poor, intermediate, normal (extensive) or rapid metabolizers of drugs metabolized by cytochrome P450 1A2 to assist drug therapy decision making

BHDZ - Overview: Birt-Hogg-Dube Syndrome, FLCN, Full Gene Analysis, Varies

Evaluating patients with a personal or family history suggestive of Birt-Hogg-Dube (BHD) syndrome Establishing a diagnosis of BHD syndrome allowing for targeted cancer surveillance based on associated risks Identifying variants within...

MDSDF - Overview: Myelodysplastic Syndrome (MDS), Diagnostic FISH, Varies

Detecting a neoplastic clone associated with the common chromosome abnormalities seen in patients with myelodysplastic syndromes or other myeloid malignancies using a laboratory-designated probe set algorithm Evaluating specimens in which...

CLPMG - Overview: Phospholipid (Cardiolipin) Antibodies, IgG and IgM, Serum

The following clinical situations: -Unexplained arterial or venous thrombosis -A history of pregnancy morbidity defined as 1 or more unexplained deaths of a morphologically normal fetus beyond the 10th week of gestation, 1 or more premature...

PKLRZ - Overview: PKLR Full Gene Analysis, Varies

Aiding in the diagnosis of pyruvate kinase (PK) deficiency Ascertaining a causative variant in the PKLR gene of patients with low or relatively low levels of erythrocytic PK enzymatic activity Ascertaining carrier status of family members...

CAH21 - Overview: Congenital Adrenal Hyperplasia (CAH) Profile for 21-Hydroxylase Deficiency, Serum

Preferred screening test for congenital adrenal hyperplasia (CAH) caused by 21-hydroxylase deficiency Part of a battery of tests to evaluate women with hirsutism or infertility, which can result from adult-onset CAH

CATP - Overview: Catecholamine Fractionation, Free, Plasma

Diagnosing pheochromocytoma and paraganglioma, as an auxiliary test to fractionated plasma and urine metanephrine measurements Diagnosis follow-up of patients with neuroblastoma and related tumors, as an auxiliary test to urine...

PNTOR - Overview: Streptococcus pneumoniae IgG Antibodies, Total, with Reflex, Serum

Assessing the IgG antibody response to active immunization with nonconjugated 23-valent pneumococcal vaccines Assessing the IgG antibody response to active immunization with conjugated 13-valent, 15-valent and 20-valent pneumococcal...

QUAD1 - Overview: Quad Screen (Second Trimester) Maternal, Serum

Prenatal screening for open neural tube defect (alpha-fetoprotein only), trisomy 21 (alpha-fetoprotein, human chorionic gonadotropin, estriol, and inhibin A) and trisomy 18 (alpha-fetoprotein, human chorionic gonadotropin, and estriol)

UGTFZ - Overview: UDP-Glucuronosyltransferase 1A1 (UGT1A1), Full Gene Sequencing, Varies

Establishing a diagnosis of Crigler-Najjar syndrome type I or type II and the trait of Gilbert syndrome Establishing carrier status for Crigler-Najjar syndrome type I or type II Identifying individuals who are at risk of...

STPCO - Overview: ThinPrep with Human Papillomavirus (HPV) Co-Test-Screen, Varies

Screening for cervical carcinoma or intraepithelial lesions and the presence or absence of high-risk human papillomavirus (HR-HPV) when screening women over the age of 30 for possible cervical neoplasia Detection of high-risk HPV genotypes...

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newborn_screen_follow-up_for_glucose-6-phosphate_dehydrogenase__g-6-pd__deficiency.pdf

Foundation for Medical Education and Research (MFMER). All rights reserved. 03/2024 Decreased glucose-6-phosphate dehydrogenase (G6PD) Not G6PD deficiency. In infants with hyperbilirubinemia, consider...

mayocliniclabs.com/-/media/it-mmfiles/Special-Instructions/6/6/D/Multi-Factor-Authentication-User-Guide.pdf...

Multi-Factor Authentication for Mayo Clinic Laboratories Applications User’s Guide Page 2 6/27/2024 Multi-Factor Authentication User’s Guide TABLE OF CONTENTS Introduction ....................

glucose-6-phosphate-dehydrogenase-deficiency-diagnostic-algorithm.pdf

© Mayo Foundation for Medical Education and Research (MFMER). All rights reserved. Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency Diagnostic Algorithm * If patient status is post-allogeneic stem...

glucose-6-phosphate-dehydrogenase-genotyping-interpretive-algorithm.pdf

In the following situations, order G6PDZ / Glucose-6-Phosphate Dehydrogenase (G6PD) Full Gene Sequencing: ■ To determine carrier status (female patient) or affected status (male patient) ■ Previous...

Six ways innovative lupus tests are transforming patient and clinician experiences - Insights

The Lupus Foundation of America estimates that at least five million people worldwide have a form of lupus. Yet, the most widely used laboratory tests for patients with this complex condition were developed more than 60 years ago, and...