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Test Catalog
GALE - Overview: Uridine Diphosphate-Galactose 4' Epimerase, Blood
Diagnosis of uridine diphosphate-galactose 4' epimerase deficiency
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...
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...
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.
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...
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 aged 50 years and older To aid in the prognosis and management of individuals diagnosed with prostate cancer Monitoring disease...
ABADL - Overview: Adalimumab Antibody, Serum
Therapeutic drug monitoring of adalimumab antibody levels
QNADL - Overview: Adalimumab Quantitative, Serum
Therapeutic drug monitoring of adalimumab concentration
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...
CHRBM - Overview: Chromosome Analysis, Hematologic Disorders, Bone Marrow
Assisting in the diagnosis and classification of certain malignant hematological disorders in bone marrow specimens Evaluating the prognosis in patients with certain malignant hematologic disorders Monitoring effects of treatment...
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
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...
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...
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...
Detecting high-risk (HR) genotypes associated with the development of cervical cancer Aiding in triaging women with abnormal Pap smear test results Individual genotyping of human papillomavirus (HPV)-16 and/or HPV-18 if present Results...
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...
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
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
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
LQTSG - Overview: Long QT Syndrome Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of long QT syndrome (LQTS) Establishing a diagnosis of LQTS
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
AFXN - Overview: Friedreich Ataxia, Repeat Expansion Analysis, Varies
Molecular confirmation of clinically suspected Friedreich ataxia
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
HCYSP - Overview: Homocysteine, Total, Plasma
An aid for screening patients suspected of having an inherited disorder of methionine metabolism including: -Cystathionine beta-synthase deficiency (homocystinuria) -Methylenetetrahydrofolate reductase deficiency and its thermolabile...
HCYSS - Overview: Homocysteine, Total, Serum
An aid for screening patients suspected of having an inherited disorder of methionine metabolism including: -Cystathionine beta-synthase deficiency (homocystinuria) -Methylenetetrahydrofolate reductase deficiency and its thermolabile...
Diagnosing growth disorders Diagnosing adult growth hormone deficiency Monitoring of recombinant human growth hormone treatment Insulin-like growth factor binding protein 3 can be used as a possible adjunct to insulin-like growth...
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...
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...
GNHMB - Overview: Hemophilia B, F9 Gene, Next-Generation Sequencing, Varies
Confirming a clinical diagnosis of hemophilia B in affected male patients with the identification of a disease-causing variant in the F9 gene Determining the disease-causing alteration within the F9 gene to delineate the underlying...
WESR - Overview: Whole Exome Sequencing Reanalysis, Varies
Identifying a diagnosis or additional variants associated with the phenotype in patients who previously have had a negative or inconclusive whole exome sequencing test Reanalyzing whole exome sequencing data when a patient (proband)...
SQTSG - Overview: Short QT Syndrome Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of short QT syndrome Establishing a diagnosis of short QT syndrome
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
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...
WGSR - Overview: Whole Genome Sequencing Reanalysis, Varies
Identifying a diagnosis or additional variants associated with the phenotype in patients who previously have had a negative or inconclusive whole genome sequencing test Reanalyzing whole genome sequencing data when a patient (proband)...
MDC2 - Overview: Movement Disorder, Autoimmune/Paraneoplastic Evaluation, Spinal Fluid
Evaluating patients with suspected paraneoplastic or other autoimmune movement disorders including patients with ataxia, brainstem encephalitis, chorea, dyskinesias, myoclonus, and parkinsonism using spinal fluid specimens
ASU24 - Overview: Arsenic with Reflex, 24 Hour, Urine
Preferred screening test for detection of arsenic exposure using 24-hour urine specimens
BUAUC - Overview: Busulfan, Intravenous Dose, Area Under the Curve, Plasma
Guiding dosage adjustments to achieve complete bone marrow ablation while minimizing dose-dependent toxicity
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...
AATTF - Overview: Antithrombin Activity, with Reflex to Antithrombin Antigen, Plasma
Diagnosis of antithrombin deficiency, acquired or congenital
HERMB - Overview: HER2, Breast, Semi-Quantitative Immunohistochemistry, Manual with HER2 FISH Reflex
Determining overexpression of HER2 protein on formalin-fixed, paraffin-embedded tissue sections
CMAPT - Overview: Chromosomal Microarray, Tumor, Formalin-Fixed Paraffin-Embedded
Genomic characterization of tumor for copy number imbalances and loss of heterozygosity Assisting in the diagnosis and classification of malignant neoplasms Evaluating the prognosis for patients with malignant tumors
CMVPV - Overview: Cytomegalovirus (CMV) Molecular Detection, PCR, Varies
Rapid qualitative detection of cytomegalovirus (CMV) DNA This test is not intended for the monitoring of CMV disease progression.
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.
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...
GALTP - Overview: Galactose-1-Phosphate Uridyltransferase Biochemical Phenotyping, Erythrocytes
Determining the biochemical phenotype for galactosemia when enzymatic and molecular results are incongruent
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...
HERBN - Overview: HER2, Breast, Quantitative Immunohistochemistry, Automated, No Reflex
Determining overexpression of HER2 protein on formalin-fixed, paraffin-embedded tissue sections without a reflex to FISH testing This FDA-approved test is most frequently used to evaluate HER2 overexpression in breast cancer
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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....