PALB - Overview: Prealbumin, Serum
Assessing nutritional status, especially in monitoring the response to nutritional support in the acutely ill patient
SP7TC - Overview: Septin-7 Antibody, Tissue Immunofluorescence Titer, Spinal Fluid
Detecting septin-7 IgG in cerebrospinal fluid (CSF) specimens Reporting an end titer result from CSF specimens
PGK1 - Overview: Phosphoglycerate Kinase Enzyme Activity, Blood
Evaluation of individuals with Coombs-negative nonspherocytic hemolytic anemia, especially if X-linked inheritance pattern Evaluation of individuals with myopathic or neurologic symptoms
FL - Overview: Fluoride, Plasma
Assessing accidental fluoride ingestion Monitoring patients receiving sodium fluoride for bone disease or patients receiving voriconazole therapy
2OHGP - Overview: 2-Hydroxyglutaric Aciduria Gene Panel, Varies
Follow up for abnormal biochemical results suggestive of 2-hydroxyglutaric aciduria Establishing a molecular diagnosis for patients with 2-hydroxyglutaric aciduria Identifying variants within genes known to be associated with...
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...
HLHGP - Overview: Primary Hemophagocytic Lymphohistiocytosis Gene Panel, Varies
Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of familial hemophagocytic lymphohistiocytosis (F-HLH) Establishing a diagnosis of F-HLH, allowing for appropriate management and...
CDGF - Overview: Celiac Disease Gluten-Free Cascade, Serum and Whole Blood
Evaluating patients suspected of having celiac disease who are currently (or were recently) on a gluten-free diet
NHHA - Overview: Hereditary Hemolytic Anemia Gene Panel, Next-Generation Sequencing, Varies
Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of hereditary hemolytic anemias, including red blood cell (RBC) membrane/hydration disorders, RBC enzymopathies, and congenital...
LLTOF - Overview: Leukemia and Lymphoma Phenotyping, Technical Only, Varies
Evaluating lymphocytoses of undetermined etiology Identifying B- and T-cell lymphoproliferative disorders involving blood and bone marrow Distinguishing acute lymphoblastic leukemia from acute myeloid leukemia (AML) Immunologic subtyping...
AMLMF - Overview: Acute Myeloid Leukemia (AML), Specified FISH, Varies
Detecting recurrent common chromosome abnormalities seen in patients with acute myeloid leukemia (AML) using a client-specified probe set An adjunct to chromosome studies in patients with AML Evaluating specimens in which chromosome...
BTKSG - Overview: Bruton Tyrosine Kinase, BTK Full Gene Analysis, Varies
Confirming a diagnosis of X-linked agammaglobulinemia in patients with a history of recurrent sinopulmonary infections, profound hypogammaglobulinemia, and less than 1% peripheral B cells, with or without abnormal Bruton tyrosine kinase...
MSUDP - Overview: Maple Syrup Urine Disease Gene Panel, Varies
Follow up for abnormal biochemical results suggestive of maple syrup urine disease (MSUD) Establishing a molecular diagnosis for patients with MSUD Identifying variants within genes known to be associated with MSUD, allowing for...
CKDGP - Overview: Cystic Kidney Disease Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history of cystic kidney disease Establishing a diagnosis of hereditary cystic kidney disease
MITOP - Overview: Mitochondrial Full Genome Analysis, Next-Generation Sequencing (NGS), Varies
Diagnosis of the subset of mitochondrial diseases that results from variants in the mitochondrial genome A second-tier test for patients in whom previous targeted gene variant analyses for specific mitochondrial disease-related genes were...
Follow-up testing to identify variants in individuals with a clinical diagnosis of cystic fibrosis (CF) Identifying genetic variants in individuals with atypical presentations of CF (eg, congenital bilateral absence of the vas deferens or...
PCMSP - Overview: Postmortem Inherited Congenital Myasthenia Syndrome Gene Panel, Tissue
Identifying variants within genes known to be associated with congenital myasthenic syndrome, allowing for predictive testing of at-risk family members Providing a comprehensive postmortem genetic evaluation in the setting of a congenital...
PQNRU - Overview: Porphyrins, Quantitative, Random, Urine
Preferred test to begin assessment for congenital erythropoietic porphyria and porphyria cutanea tarda and during symptomatic periods for acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria when specimen...
OHPG - Overview: 17-Hydroxyprogesterone, Serum
Screening test for congenital adrenal hyperplasia (CAH), caused by either 11- or 21-hydroxylase deficiency, when used in combination with testing for cortisol and androstenedione As part of a battery of tests to evaluate women with...
LPCBS - Overview: Lysophosphatidylcholines, LC MS/MS, Blood Spot
Second-tier newborn screen for X-linked adrenoleukodystrophy This test is not intended for metabolic screening of symptomatic patients. This test is supplemental and not intended to replace state mandated newborn screening.
PMS2 - Overview: PMS2 Immunostain, Technical Component Only
Identifying patients at high risk for having hereditary nonpolyposis colorectal cancer, also known as Lynch syndrome, in an immunopanel including PMS2 and other mismatch repair markers Evaluation of tumor tissue to identify patients at...
TLPDF - Overview: T-Cell Lymphoma, Diagnostic FISH, Varies
Detecting, at diagnosis, common chromosome abnormalities associated with specific T-cell lymphoma subtypes using a laboratory-designated probe set algorithm
PSHIV - Overview: HIV-1 RNA Patient Source, Plasma
Detection and diagnosis of HIV-1 infection in an acutely or early infected individual (including infants of <2 years of age) who is the source of blood or body fluid in an occupational exposure event
POX - Overview: Fatty Acid Profile, Peroxisomal (C22-C26), Serum
Evaluating patients with possible peroxisomal disorders, single-enzyme defects of peroxisomal metabolism, such as X-linked adrenoleukodystrophy or peroxisomal biogenesis disorders (Zellweger syndrome spectrum) using serum specimens Aiding...
Second-tier testing of newborns with an abnormal primary screening result for mucopolysaccharidosis type I (MPS I, decreased alpha-L-iduronidase activity) where quantitation of the glycosaminoglycans dermatan and heparan sulfate is desired...
POXP - Overview: Fatty Acid Profile, Peroxisomal (C22-C26), Plasma
Evaluating patients with possible peroxisomal disorders, including peroxisomal biogenesis disorders, X-linked adrenoleukodystrophy, and Refsum disease using plasma specimens Aiding in the assessment of peroxisomal function
XL2T - Overview: FOXL2 Mutation Analysis, Next-Generation Sequencing, Tumor
Assisting in the clinical diagnosis of adult granulosa cell tumor by assessing gene targets with in the FOXL2 gene
Second-tier testing of newborns with an abnormal primary screening result for mucopolysaccharidosis type II (MPS II, decreased iduronate-2-sulfatase) where quantitation of the glycosaminoglycans dermatan and heparan sulfate is desired in...
MYEFL - Overview: Myelodysplastic Syndrome by Flow Cytometry, Bone Marrow
Detecting increased blasts Characterizing blast phenotypes Identifying abnormal patterns of myeloid maturation as seen in myelodysplastic syndromes and other clonal myeloid neoplasms Providing additional adjunct diagnostic information in...
MESOF - Overview: Mesothelioma, CDKN2A FISH, Tissue
Supporting the diagnosis of mesothelioma when used in conjunction with an anatomic pathology consultation
NGAML - Overview: MayoComplete Acute Myeloid Leukemia, 11-Gene Panel, Varies
Evaluation of acute myeloid leukemia using a focused 11-gene panel at the time of diagnosis, or possibly at the time of relapsed/refractory disease, to help guide classification and possible therapeutic approaches
PGRBC - Overview: Plasmalogens, Blood
Diagnosing patients with possible peroxisomal disorders, such as peroxisomal biogenesis disorders (Zellweger syndrome spectrum) and rhizomelic chondrodysplasia punctata (RCDP), including fatty acyl-CoA reductase 1 (FAR1) deficiency...
OTP - Overview: Orthopedia Homeobox Protein (OTP) Immunostain, Technical Component Only
Distinguishing lung carcinoid tumors from metastatic neuroendocrine tumors
PTU - Overview: Protein, Total, 24 Hour, Urine
Evaluation of kidney disease using a 24-hour urine collection Screening for monoclonal gammopathy
PACP - Overview: Prostatic Acid Phosphatase, Serum
Aiding in predicting recurrence after radical prostatectomy for clinically localized prostate cancer Following response to androgen ablation therapy, when used in conjunction with prostate-specific antigen
TLU - Overview: Thallium, 24 Hour, Urine
Detecting toxic thallium exposure in 24-hour urine collections
TAU3 - Overview: TAU 3 Immunostain, Technical Component Only
Diagnosis of neurodegenerative disorders
VORI - Overview: Voriconazole, Serum
Monitoring trough levels of voriconazole is suggested for: -Individuals with reduced liver function -Individuals with cytochrome P450 (CYP) 2C19 alterations associated with poor metabolic function -Patients taking other medications that...
PNRP - Overview: Pneumocystis jiroveci, Molecular Detection, PCR, Varies
Preferred test for detection of Pneumocystis
CPAPD - Overview: Conventional Smear-Diagnostic, Varies
Screening for cervical carcinoma and a number of infections of the female genital tract including human papillomavirus, herpes, Candida, and Trichomonas
B2MU - Overview: Beta-2 Microglobulin, Random, Urine
Evaluation of renal tubular damage Monitoring exposure to cadmium and mercury
PAX5 - Overview: PAX-5 Immunostain, Technical Component Only
Classification of lymphomas
VITB2 - Overview: Riboflavin (Vitamin B2), Plasma
Evaluation of individuals who present the signs of ariboflavinosis
APBTS - Overview: Adaptor Protein 3 Beta2 (AP3B2) Antibody, Tissue Immunofluorescence Titer, Serum
The differential diagnosis of patients presenting with mixed cerebellar and sensory ataxia and myeloneuropathy Reporting an end titer result from serum specimens
VIP - Overview: Vasoactive Intestinal Polypeptide, Plasma
Detecting vasoactive intestinal polypeptide-producing tumors in patients with chronic diarrheal diseases
Detecting tripartite motif-containing protein 46 (TRIM46)-IgG by cell-binding assay using cerebrospinal fluid specimens Evaluation of an autoimmune/paraneoplastic neurological syndrome among patients presenting with cerebellar ataxia,...
TCL1A - Overview: T-Cell Leukemia/Lymphoma Protein 1A (TCL1A) Immunostain, Technical Component Only
Identification of T-cell leukemia and lymphoma protein overexpression in neoplasms
TOPI - Overview: Topiramate, Serum
Monitoring serum concentrations of topiramate Assessing compliance Assessing potential toxicity
HPLC - Overview: High-Performance Liquid Chromatography (HPLC) Hemoglobin Variant, Blood
Providing additional information, which aids in the identification of hemoglobin variants
FLUOX - Overview: Fluoxetine, Serum
Monitoring serum concentration of fluoxetine during therapy Evaluating potential toxicity Evaluating patient compliance
helps in diagnosis, treatment, and prognosis of ALS and MS - Insights
neurofilament light chain (Nfl) proteins in blood, clinicians can better diagnose devastating diseases like ALS and MS, help predict disease progression, and better assess efficacy of existing drugs and trial therapies...
Frontotemporal dementia and ALS - Insights
Learn more about how detection of amyotrophic lateral sclerosis and frontotemporal dementia paved the way for gene-targeted therapies for patients.
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1939: Lou Gehrig Comes to Mayo Clinic #ThrowbackThursday - Insights
June 1939, his name became associated with an illness called amyotrophic lateral sclerosis (ALS). Today, ALS is known as Lou Gehrig’s Disease....
Hereditary Alzheimer's disease and dementia - Insights
Learn about our genetic testing for Alzheimer’s disease, amyotrophic lateral sclerosis (ALS), frontotemporal dementia, and CADASIL....