PKUSC - Overview: Phenylalanine and Tyrosine, Self-Collect, Blood Spot
Monitoring effectiveness of therapy in patients with hyperphenylalaninemia in a patient-collected specimen This test is not sufficient for follow-up for abnormal newborn screening results or for establishing a diagnosis of a specific...
PSAU - Overview: Prostate-Specific Antigen (PSA) Ultrasensitive, Serum
As an aid in the detection of prostate cancer when used in conjunction with a digital rectal exam in men ages 50 years and older To aid in the prognosis and management of individuals diagnosed with prostate cancer Monitoring disease after...
VLCZ - Overview: Very Long Chain Acyl-CoA Dehydrogenase Deficiency, Full Gene Analysis, Varies
Confirmation of a diagnosis of very long chain acyl-CoA dehydrogenase (VLCAD) deficiency Carrier screening in cases where there is a family history of VLCAD deficiency, but an affected individual is not available for testing or...
DCORT - Overview: 11-Deoxycortisol, Serum
Diagnostic workup of patients with congenital adrenal hyperplasia Part of metyrapone testing in the workup of suspected secondary or tertiary adrenal insufficiency Part of metyrapone testing in the differential diagnostic workup of...
CLFAT - Overview: Cryptococcus Antigen Titer, Lateral Flow Assay, Spinal Fluid
Monitoring Cryptococcus antigen titers in cerebrospinal fluid Aiding in the diagnosis of cryptococcosis This test should not be used as a test of cure or to guide treatment decisions.
HRTVC - Overview: Heartland Virus, RNA, Molecular Detection, PCR, Spinal Fluid
Aiding in the diagnosis of central nervous system infection caused by Heartland virus using spinal fluid specimens
INHA - Overview: Inhibin A, Tumor Marker, Serum
Aiding in the diagnosis of patients with granulosa cell tumors of the ovary when used in combination with inhibin B Monitoring of patients with granulosa cell tumors and epithelial mucinous-type tumors of the ovary known to secrete inhibin...
HSVPB - Overview: Herpes Simplex Virus (HSV), Molecular Detection, PCR, Blood
Aiding in the rapid diagnosis of disseminated disease due to herpes simplex virus (HSV) Qualitative detection of HSV DNA This test should not be used to screen asymptomatic patients.
HVA - Overview: Homovanillic Acid, 24 Hour, Urine
Screening children for catecholamine-secreting tumors using a 24-hour urine collection when requesting homovanillic acid only Monitoring neuroblastoma treatment Screening patients with possible inborn errors of catecholamine metabolism
LKM - Overview: Liver/Kidney Microsome Type 1 Antibodies, Serum
Evaluation of patients with liver disease of unknown etiology Evaluation of patients with suspected autoimmune hepatitis
LDBF - Overview: Lactate Dehydrogenase (LDH), Body Fluid
Identification of exudative pleural effusions Lactate dehydrogenase in pericardial fluids is not diagnostically useful.
IBDP2 - Overview: Inflammatory Bowel Disease Serology Panel, Serum
Distinguishing between ulcerative colitis and Crohn disease in patients for whom the specific diagnosis is unclear based on endoscopic, pathologic, and imaging evaluations This test is not useful for determining the extent of disease in...
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
AN2TC - Overview: Antineuronal Nuclear Antibody Type 2 (ANNA-2) Titer, Spinal Fluid
Investigating middle-aged or older patients who present with unexplainable signs of midbrain/cerebellar/brain stem disorder and/or myelopathy, especially women with a previous history of breast cancer, and both sexes if there is a history...
AN2TS - Overview: Antineuronal Nuclear Antibody Type 2 (ANNA-2) Titer, Serum
Investigating middle-aged or older patients who present with unexplainable signs of midbrain/cerebellar/brain stem disorder and/or myelopathy, especially women with a previous history of breast cancer, and both sexes if there is a history...
Diagnosing autoimmune lymphoproliferative syndrome, primarily in patients younger than 45 years
SAFB - Overview: Acid-Fast Smear for Mycobacterium, Varies
Detection of acid-fast bacilli in clinical samples
BETV2 - Overview: BET v2 (Profilin), IgE, Serum
Evaluation of patients suspected birch pollen allergy Evaluation of patients with suspected peanut allergy Evaluation of patients with oral allergy syndrome to other pollens or plant-based foods Testing for IgE antibodies is not useful...
CFRC - Overview: Bacterial Culture, Cystic Fibrosis, Respiratory
Detecting disease-causing aerobic bacteria in specimens from patients with cystic fibrosis
SBULB - Overview: Spinobulbar Muscular Atrophy (Kennedy Disease), Molecular Analysis, Varies
Molecular confirmation of clinically suspected cases of sporadic or familial spinobulbar muscular atrophy (SBMA) Presymptomatic testing for individuals with a family history of SBMA and a documented expansion in the androgen receptor (AR)...
PMET - Overview: Metanephrines, Fractionated, Free, Plasma
Screening test for presumptive diagnosis of catecholamine-secreting pheochromocytomas or paragangliomas
MNB - Overview: Manganese, Blood
Evaluation of central nervous system symptoms, similar to Parkinson disease, in manganese (Mn) miners and processors Characterization of liver cirrhosis Therapeutic monitoring in treatment of cirrhosis, parenteral nutrition-related Mn...
SALMC - Overview: Salmonella Culture, Feces
Determining whether Salmonella species may be the cause of diarrhea Reflexive testing for Salmonella species from nucleic acid amplification test-positive feces This test is generally not useful for patients hospitalized more than 3...
SM - Overview: Smith (Sm) Antibodies, IgG, Serum
Evaluating patients with clinical features suggestive of antinuclear antibody associated connective tissue disease and the confirmation of a diagnosis of systemic lupus erythematosus. Testing for Smith antibodies is not useful in patients...
CRCOF - Overview: Chromium and Cobalt, Synovial Fluid
Monitoring metallic prosthetic implant wear and local tissue destruction in failed hip arthroplasty constructs This test is not useful for assessment of vitamin B12 activity.
SLFAT - Overview: Cryptococcus Antigen Titer, Lateral Flow Assay, Serum
Monitoring Cryptococcus antigen titers in serum Aiding in the diagnosis of cryptococcosis This test should not be used as a test of cure or to guide treatment decisions.
AATTA - Overview: Antithrombin Summary Interpretation
Diagnosis of antithrombin deficiency, acquired or congenital Monitoring treatment of antithrombin deficiency disorders, including infusion of antithrombin therapeutic concentrate
KRASD - Overview: Cell-Free DNA KRAS 12, 13, 61,146, Blood
An alternative to invasive tissue biopsies for the determination of KRAS 12, 13, 61,146 (G12A, G12C, G12D, G12R, G12S, G12V, G13D, Q61K, Q61L, Q61R, Q61H, and A146T) mutation status Detecting molecular markers associated with response or...
GSH - Overview: Glutathione, Blood
Evaluation of neonatal hyperbilirubinemia, favism or chronic or episodic hemolysis or jaundice Evaluation for gamma-glutamylcysteine synthetase deficiency Evaluation for glutathione synthetase deficiency causing hemolytic anemia...
HGBCE - Overview: Hemoglobin Variant, A2 and F Quantitation, Blood
Monitoring patients with sickling disorders who have received hydroxyurea or transfusion therapy This test is not intended for diagnostic purposes. This test is not useful for screening purposes.
ROMA1 - Overview: Risk Score, if Premenopausal, Serum
Calculating risk assessment for finding an ovarian malignancy during surgery in premenopausal women who present with an adnexal mass
Increased levels of neopterin are found during impaired renal function and viral infection in transplant patients. Elevated levels are also indicators for conditions related to impaired cellular immunity.
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...
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...
GNMY9 - Overview: MYH9-Related Disorders, MYH9 Gene, Next-Generation Sequencing, Varies
Evaluating MYH9-related disorders, including May-Hegglin disorder/anomaly and Sebastian syndrome, in patients with a personal or family history suggestive of an MYH9-related disorder Diagnosing MYH9-related disorders, including May-Hegglin...
FGHTP - Overview: Ghrelin Total (Plasma)
Ghrelin Total (Plasma)
8INHT - Overview: Factor VIII Inhibitor Profile, Technical Interpretation
Technical interpretation of inhibitor to factor VIII testing This test is not useful for the detection of a lupus-like circulating anticoagulant inhibitor, a nonspecific circulating anticoagulant, or other inhibitors that are not specific...
C1Q - Overview: Complement C1q, Serum
Assessment of an undetectable total complement level Diagnosing congenital C1 (first component of complement) deficiency Diagnosing acquired deficiency of C1 inhibitor
GNBLC - Overview: Bleeding Disorders, Comprehensive Gene Panel, Next-Generation Sequencing, Varies
Evaluating hereditary bleeding in patients with a personal or family history suggestive of a hereditary bleeding disorder Confirming a hereditary bleeding disorder diagnosis with the identification of a known or suspected disease-causing...
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...
VWD8B - Overview: von Willebrand Disease 2N (Subtype Normandy), Plasma
Diagnosing von Willebrand disease (VWD) type 2N Evaluating patients diagnosed with mild-to-moderate hemophilia A with an autosomal inheritance pattern Evaluating hemophilia A patients with a shortened survival of infused factor VIII...
PDBS - Overview: Pompe Disease, Blood Spot
Evaluating patients with a clinical presentation suggestive of Pompe disease (muscle hypotonia, weakness, or cardiomyopathy) outside of the newborn screening setting
HGH - Overview: Growth Hormone, Serum
Diagnosis of acromegaly and assessment of treatment efficacy when interpreted in conjunction with results from glucose suppression test Diagnosis of human growth hormone deficiency when interpreted in conjunction with results from growth...
USPF - Overview: USP6 (17p13), Aneurysmal Bone Cyst and Nodular Fasciitis, FISH, Tissue
Supporting the diagnosis of aneurysmal bone cyst or nodular fasciitis
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
GALE - Overview: Uridine Diphosphate-Galactose 4' Epimerase, Blood
Diagnosis of uridine diphosphate-galactose 4' epimerase deficiency
HERMB - Overview: HER2, Breast, Semi-Quantitative Immunohistochemistry, Manual with HER2 FISH Reflex
Determining overexpression of HER2 protein on formalin-fixed, paraffin-embedded tissue sections
HBA1C - Overview: Hemoglobin A1c, Blood
Evaluating the long-term control of blood glucose concentrations in patients with diabetes Diagnosing diabetes Identifying patients at increased risk for diabetes (prediabetes) This assay is not useful in determining day-to-day glucose...
9INHE - Overview: Factor IX Inhibitor Evaluation, Plasma
Detection and titering of coagulation inhibitor to the specific factor requested, primarily factor IX in patients with hemophilia B This test is not useful for the detection of a lupus-like circulating anticoagulant inhibitor, a...
FET - Overview: Iron, Liver Tissue
Diagnosis of hemochromatosis using liver tissue specimens
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....