ATTI - Overview: Antithrombin Antigen, Plasma
Assessing abnormal results of the antithrombin activity assay (ATTF / Antithrombin Activity, Plasma), the recommended primary (screening) antithrombin assay Diagnosing antithrombin deficiency, acquired or congenital, in conjunction with...
ASPAG - Overview: Aspergillus (Galactomannan) Antigen, Serum
Aiding in the diagnosis of invasive aspergillosis Assessing response to therapy
Preferred diagnostic test for the detection of Bordetella pertussis or Bordetella parapertussis This test is not recommended for screening asymptomatic individuals who may carry B pertussis or parapertussis. This test is not recommended...
NPM1Q - Overview: Nucleophosmin (NPM1) Mutation Analysis, Varies
As a prognostic indicator in patients with newly diagnosed acute myelogenous leukemia with normal karyotype and no FLT3 variant and as a leukemia-specific marker of minimal residual disease
NSESF - Overview: Neuron-Specific Enolase (NSE), Spinal Fluid
An auxiliary test in the diagnosis of Creutzfeldt-Jakob disease An auxiliary test in the diagnosis of small cell lung carcinoma metastasis to central nervous system or leptomeninges
PPFWE - Overview: Protoporphyrins, Fractionation, Washed Erythrocytes
Preferred test for analysis of erythrocyte protoporphyrin fractions Preferred test for evaluating patients with possible diagnoses of erythropoietic protoporphyria and X-linked dominant protoporphyria Establishing a biochemical...
MMPP - Overview: Mitochondrial Metabolites, Plasma
Monitoring patients with mitochondrial disorders, organic acidurias, and ketone body disorders
CMAH - Overview: Chromosomal Microarray, Hematologic Disorders, Varies
Detection and characterization of clonal copy number imbalance and loss of heterozygosity associated with hematologic neoplasms Assisting in the diagnosis and classification of certain hematologic neoplasms Evaluating the prognosis for...
CMAT - Overview: Chromosomal Microarray, Tumor, Fresh or Frozen
Genomic characterization of tumor for copy number imbalances and loss of heterozygosity Assisting in the diagnosis and classification of malignant neoplasms, including hematolymphoid malignancies Evaluating the prognosis for patients with...
CLFA - Overview: Cryptococcus Antigen Screen with Titer, Spinal Fluid
Aiding in the diagnosis of cryptococcosis This test should not be performed as a screening procedure for the general population. This test should not be used as a test of cure or to guide treatment decisions.
SLFA - Overview: Cryptococcus Antigen Screen with Titer, Serum
Aiding in the diagnosis of cryptococcosis This test should not be used as a test of cure or to guide treatment decisions. This test should not be used as a screening procedure for the general populations.
DDITT - Overview: D-Dimer, Plasma
Excluding the diagnosis of acute pulmonary embolism or deep vein thrombosis, particularly when results of a sensitive D-dimer assay are combined with clinical information, including pretest disease probability(1-4) Diagnosis of...
EBVPV - Overview: Epstein-Barr Virus (EBV), Molecular Detection, PCR, Varies
Rapid qualitative detection of Epstein-Barr virus (EBV) DNA in specimens Diagnosis of disease due to EBV This test should not be used to screen asymptomatic patients.
Supporting the diagnosis of low-grade fibromyxoid sarcoma when used in conjunction with an anatomic pathology consultation
DDITF - Overview: Myxoid/Round Cell Liposarcoma, 12q13 (DDIT3 or CHOP) Rearrangement, FISH, Tissue
Aiding in the diagnosis of myxoid/round cell liposarcoma by detecting a neoplastic clone associated with gene rearrangement involving the DDIT3 (CHOP) gene region at 12q13
XYMF - Overview: Known 45,X, Mosaicism Reflex Analysis, FISH, Whole Blood
Detecting sex chromosome mosaicism in patients with a 45,X karyotype
DD22F - Overview: 22q11.2 Deletion/Duplication, FISH, Varies
Establishing a diagnosis of 22q deletion/duplication syndromes Detecting cryptic rearrangements involving 22q11.2 or 22q11.3 that are not demonstrated by conventional chromosome studies
HVDIP - Overview: HIV-1 and HIV-2 Antibody Confirmation and Differentiation, Plasma
Confirmation and differentiation of HIV-1 and HIV-2 antibodies in plasma specimens that show reactive results with third-(HIV-1/-2 antibody only) and 4th-generation (HIV antigen and antibody) HIV serologic assays This test is not useful as...
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
NMEM - Overview: Red Blood Cell Membrane Disorders Gene Panel, Next-Generation Sequencing, Varies
Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of a red blood cell (RBC) membrane disorder Second-tier testing for patients in whom previous targeted gene variant analyses were...
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...
HVPPS - Overview: HIV-1 and HIV-2 Antibody Confirmation and Differentiation Prenatal, Serum
Confirmation and differentiation of HIV-1 and HIV-2 antibodies in serum specimens from prenatal patients who show reactive results with 3rd- (HIV-1/-2 antibody only) and 4th-generation (HIV antigen and antibody) HIV serologic assays This...
HVDSP - Overview: HIV-1 and HIV-2 Antibody Confirmation and Differentiation, Prenatal, Plasma
Confirmation and differentiation of HIV-1 and HIV-2 antibodies in plasma specimens from prenatal patients who show reactive results with 3rd- (HIV-1/-2 antibody only) and 4th-generation (HIV antigen and antibody) HIV serologic assays This...
Comprehensive evaluation of the GATA2 gene in patients with clinical or immunological symptoms suggestive of GATA-binding protein 2 (GATA2) deficiency Screening family members of patients with confirmed GATA2 deficiency
AFXN - Overview: Friedreich Ataxia, Repeat Expansion Analysis, Varies
Molecular confirmation of clinically suspected Friedreich ataxia
MFBNG - Overview: FBN1 Full Gene Sequencing with Deletion/Duplication, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of Marfan syndrome and other FBN1-related conditions Establishing a diagnosis for Marfan syndrome and other FBN1-related conditions
ABADL - Overview: Adalimumab Antibody, Serum
Therapeutic drug monitoring of adalimumab antibody levels
QNADL - Overview: Adalimumab Quantitative, Serum
Therapeutic drug monitoring of adalimumab concentration
CTDC - Overview: Connective Tissue Diseases Cascade, Serum
Evaluation of patients with signs and symptoms compatible with connective tissue diseases Initial evaluation of patients in clinical situations in which the prevalence of disease is low (6) This test is not recommended for: -Testing in...
Confirmation of a clinical diagnosis of Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD) Distinguishing DMD from BMD in some cases, based on the type of deletion detected (allows for better prediction of...
CMAPC - Overview: Chromosomal Microarray, Autopsy, Products of Conception, or Stillbirth
Prenatal diagnosis of copy number changes (gains or losses) across the entire genome Diagnosing chromosomal causes for fetal death Determining recurrence risk of future pregnancy losses Determining the size, precise breakpoints, gene...
GLICP - Overview: CD8 T-Cell Immune Competence Panel, Global, Whole Blood
Determining over immunosuppression within the CD8 T-cell compartment, when used on transplant recipients and patients with autoimmune disorders receiving therapy with immunosuppressant agents
CYSGP - Overview: Cystinuria Gene Panel, Varies
Follow up for abnormal biochemical results suggestive of cystinuria Establishing a molecular diagnosis for patients with cystinuria Identifying variants within genes known to be associated with cystinuria, allowing for predictive testing...
CDIFS - Overview: Clostridioides difficile Culture with Antimicrobial Susceptibilities, Varies
Providing an isolate suitable for antimicrobial susceptibility testing to direct antimicrobial therapy of extraluminal infections and in cases of treatment failure
CDKZ - Overview: CDKN1C Gene, Full Gene Analysis, Varies
Confirming a clinical diagnosis of Beckwith-Wiedemann syndrome following a normal result on methylation analysis Confirming a clinical diagnosis of IMAGe (intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia...
IGFMS - Overview: Insulin-Like Growth Factor-1, Mass Spectrometry, Serum
Evaluation of growth disorders Evaluation of growth hormone deficiency or excess in children and adults Monitoring of recombinant human growth hormone treatment Follow-up of individuals with acromegaly and gigantism
HEXU - Overview: Iohexol, Timed Collection, Urine
Determining glomerular filtration rate in urine specimens
PBOU - Overview: Lead Occupational Exposure, Random, Urine
Detecting clinically significant lead exposure due to occupational exposure in random urine specimens This test is not a substitute for blood lead screening.
LITH - Overview: Lithium, Serum
Monitoring therapy of patients with bipolar disorders, including recurrent episodes of mania and depression Evaluating lithium toxicity
ASHA - Overview: Arsenic, Hair
Detection of nonacute arsenic exposure in hair specimens
BHISI - Overview: Bone Histomorphometry, Consultant Interpretation, Slides Only
Identifying undetermined metabolic bone disease in submitted slide specimens Diagnosing renal osteodystrophy Diagnosing osteomalacia Diagnosing osteoporosis Diagnosing Paget disease Assessing the effects of therapy Identifying...
SP5CS - Overview: Septin-5 Antibody, Cell Binding Assay, Serum
Detecting septin-5 IgG by cell-binding assay using serum specimens
RAT10 - Overview: Citrate/Creatinine Ratio, Urine
Calculating the citrate concentration per creatinine Diagnosing risk factors for patients with calcium kidney stones Monitoring results of therapy in patients with calcium stones or renal tubular acidosis
SP5CC - Overview: Septin-5 Antibody, Cell-Binding Assay, Spinal Fluid
Detecting septin-5 IgG by cell-binding assay using cerebrospinal fluid specimens
SP7TS - Overview: Septin-7 Antibody, Tissue Immunofluorescence Titer, Serum
Detecting septin-7 IgG in serum specimens Reporting an end titer result from serum specimens
REVE0 - Overview: Erythrocytosis Summary Interpretation
Incorporating and summarizing subsequent results into an overall interpretation for the REVE2 / Erythrocytosis Evaluation, Blood
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...
BCELL - Overview: B-Cell and Antibody Deficiency Gene Panel, Varies
Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of an inherited primary B-cell disorder or humoral immunodeficiency Establishing a diagnosis of a primary B-cell disorder or humoral...
CDCOM - Overview: Celiac Disease Comprehensive Cascade, Serum and Whole Blood
Evaluating patients suspected of having celiac disease, including patients with compatible symptoms, patients with atypical symptoms, and individuals at increased risk (family history, previous diagnosis with associated...
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,...
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....