ROS1F - Overview: Lung Cancer, ROS1 (6q22) Rearrangement, FISH, Tissue
Fluorescence in situ hybridization (FISH) testing for ROS1 allows for the detection of most ROS1 rearrangements, therefore, is useful for identifying tumors that may be sensitive to directed therapy ROS1 FISH testing may also support the...
PMMIL - Overview: Phosphomannomutase and Phosphomannose Isomerase, Leukocytes
Diagnosing congenital disorders of glycosylation Ia (phosphomannomutase-2 deficiency: PMM2-CDG) and Ib (phosphomannose isomerase deficiency: MPI-CDG) as measured in leukocytes Follow-up testing for patients with an abnormal type I CDG...
GPSY - Overview: Glucopsychosine, Blood Spot
Second-tier test when newborn screening results with reduced beta-glucosidase (GBA) activity are identified Diagnosis and monitoring of patients with Gaucher disease using dried blood spot specimens Monitoring a patient's response to...
Screening cadaveric or hemolyzed serum specimens for hepatitis C virus (HCV) infection in asymptomatic individuals with or without risk factors for HCV infection Note: In accordance with National Coverage Determination guidance, this test...
GALCW - Overview: Galactocerebrosidase, Leukocytes
Diagnosis of Krabbe disease Follow-up testing for evaluation of an abnormal newborn screening result for Krabbe disease This test is not intended for carrier detection.
HCCDD - Overview: Hepatitis C Virus Antibody, Cadaveric or Hemolyzed Specimens, Symptomatic, Serum
Diagnosis of hepatitis C virus (HCV) infection in cadaveric or hemolyzed serum specimens from symptomatic patients with or without risk factors for HCV infection This test is not intended for screening blood, cell, or tissue donors. This...
AGAW - Overview: Alpha-Galactosidase, Leukocytes
Diagnosis of Fabry disease in male patients Verifying abnormal serum alpha-galactosidase results in male patients with a clinical presentation suggestive of Fabry disease This test is not useful for patients undergoing a work-up for a...
CMAMT - Overview: Chromosomal Microarray, Autopsy/Products of Conception/Stillbirth, Tissue
Diagnosis of congenital copy number changes in products of conception, including aneuploidy (ie, trisomy or monosomy) and structural abnormalities Diagnosing chromosomal causes for fetal death Determining recurrence risk of future...
Diagnosis of a neuromyelitis optica spectrum disorder (NMOSD) Diagnosis of autoimmune AQP4 channelopathy Distinguishing NMOSD from multiple sclerosis early in the course of disease
PEE - Overview: Porphyrins Evaluation, Whole Blood
Establishing a biochemical diagnosis of erythropoietic protoporphyria and X-linked dominant protoporphyria
TBPZA - Overview: Susceptibility, Mycobacterium tuberculosis Complex, Pyrazinamide, Varies
Susceptibility testing of Mycobacterium tuberculosis complex isolates growing in pure culture against pyrazinamide This test is not useful for Mycobacterium bovis and Myocobacterium bovis bacille Calmette-Guerin (BCG) isolates as they are...
METF - Overview: MET (7q31), FISH, Tissue
Providing prognostic information and guiding treatment primarily for patients with lung, gastric, and colorectal tumors as well as other tumor types
ETV6F - Overview: ETV6 (12p13.2) Rearrangement, FISH, Tissue
Detection of ETV6 rearrangements irrespective of the ETV6 fusion partner gene Supporting the diagnosis of many neoplasms including, but not limited to, mammary analogue secretory carcinoma, secretory carcinoma of the breast, and infantile...
FGFR2 - Overview: FGFR2 (10q26.1) Rearrangement, FISH, Tissue
Providing prognostic information and guiding treatment for patients with cholangiocarcinomas and other tumor types including bladder, thyroid, oral cavity, and brain
CALR - Overview: CALR Mutation Analysis, Myeloproliferative Neoplasm (MPN), Varies
Rapid and sensitive detection of insertion and deletion-type mutations in exon 9 of CALR Aiding in distinguishing between reactive thrombocytosis and leukocytosis versus a myeloproliferative neoplasm (MPN), especially essential...
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...
UCDP - Overview: Urea Cycle Disorders Gene Panel, Varies
Follow up for abnormal biochemical results suggestive of a urea cycle disorder (UCD) Establishing a molecular diagnosis for patients with a UCD Identifying variants within genes known to be associated with UCD, allowing for predictive...
DOGPF - Overview: Dog Dander, IgE, with Reflex to Dog Dander Components, IgE, Serum
Evaluating patients with suspected dog dander allergy
DYS2 - Overview: Dysautonomia, Autoimmune/Paraneoplastic Evaluation, Serum
Investigating idiopathic dysautonomic symptoms Directing a focused search for cancer in patients with idiopathic dysautonomia Investigating autonomic symptoms that appear in the course or wake of cancer therapy and are not explainable by...
TTBS - Overview: Testosterone, Total and Bioavailable, Serum
Recommended second-level test for suspected increases or decreases in physiologically active testosterone: -Assessment of androgen status in cases with suspected or known sex hormone-binding globulin binding abnormalities -Assessment of...
CFSMN - Overview: Cystic Fibrosis and Spinal Muscular Atrophy Carrier Screen Panel, Varies
Reproductive risk refinement via carrier screening for individuals in the general population for cystic fibrosis (CF) and spinal muscular atrophy (SMA). Reproductive risk refinement via carrier screening for individuals with a family...
TOXB - Overview: Toxoplasma gondii, Molecular Detection, PCR, Blood
Supporting the diagnosis of active toxoplasmosis, particularly in immunocompromised individuals
HEXAZ - Overview: Tay-Sachs Disease, HEXA Gene, Full Gene Analysis, Varies
Second-tier test for confirming a biochemical diagnosis of Tay-Sachs disease (TSD) Carrier testing of individuals with a family history of TSD but an affected individual is not available for testing or disease-causing mutations have not...
MANN - Overview: Alpha-Mannosidase, Leukocytes
Diagnosis of alpha-mannosidosis This test is not useful for establishing carrier status for alpha-mannosidosis.
GDF15 - Overview: Growth Differentiation Factor 15, Plasma
A circulating biomarker in myopathy-related mitochondrial disease as well as other conditions Investigation of patients suspected of having a mitochondrial myopathy This assay is not suitable for carrier detection.
PCTTC - Overview: Purkinje Cell Cytoplasmic Antibody, Type Tr (PCA-Tr) Titer, Spinal Fluid
Serological testing for Purkinje cell cytoplasmic antibody-Tr for patients with acquired cerebellar ataxia of undetermined etiology, particularly if the patient has a history of Hodgkin lymphoma Reporting an end titer result from spinal...
RIVAR - Overview: Rivaroxaban, Anti-Xa, Plasma
Measuring rivaroxaban concentration in selected clinical situations (eg, kidney insufficiency, assessment of compliance, periprocedural measurement of drug concentration, suspected overdose, advanced age, and extremes of body weight)
RSBV - Overview: Rare Subepithelial Autoimmune Blistering Disease Variants, Serum
Aiding in the diagnosis of rare subepithelial autoimmune blistering diseases, including anti-laminin 332 pemphigoid, anti-p200 pemphigoid, epidermolysis bullosa acquisita, and systemic bullous lupus erythematosus
HK27M - Overview: Histone H3 K27M Mutant (H3 K27M) Immunostain, Technical Component Only
Identifying the presence of altered H3 K27M protein
GDU - Overview: Gadolinium, 24 Hour, Urine
Assessing chronic exposure and monitoring effectiveness of dialysis in a 24-hour urine collection
GDS - Overview: Gadolinium, Serum
Aiding in documenting previous exposure to gadolinium-based contrast agents using serum specimens
GD65S - Overview: Glutamic Acid Decarboxylase (GAD65) Antibody Assay, Serum
Assessing susceptibility to autoimmune (type 1, insulin-dependent) diabetes mellitus and related endocrine disorders (eg, thyroiditis and pernicious anemia) Distinguishing between patients with type 1 and type 2 diabetes Confirming a...
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
LGB3S - Overview: Globotriaosylsphingosine, Serum
Diagnosis and monitoring of Fabry disease
MINT - Overview: Molecular Interpretation
Interpretation of the hereditary erythrocytosis profile
KI67B - Overview: Ki-67(MIB-1), Breast, Quantitative Immunohistochemistry, Automated
Determining proliferation of tumor cells in paraffin-embedded tissue blocks from patients diagnosed with breast carcinoma
APIXA - Overview: Apixaban, Anti-Xa, Plasma
Measuring apixaban concentration in selected clinical situations (eg, renal insufficiency, assessment of compliance, periprocedural measurement of drug concentration, suspected overdose, advanced age, and extremes of body weight)
AAMSD - Overview: Amino Acids, Maple Syrup Urine Disease Panel, Plasma
Follow-up of patients with maple syrup urine disease Monitoring of dietary compliance for patients with maple syrup urine disease
ALB24 - Overview: Albumin, 24 Hour, Urine
Evaluating diabetic patients to assess the potential for early onset of nephropathy
CD40 - Overview: B-Cell CD40 Expression by Flow Cytometry, Blood
Evaluating patients for hyper-IgM type 3 (HIGM3) syndrome due to defects in CD40, typically seen in patients less than 10 years Assessing B-cell immune competence in other clinical contexts, including autoimmunity, malignancy, and...
HGUCR - Overview: Mercury/Creatinine Ratio, Random, Urine
Detecting mercury toxicity, a toxic heavy metal, using random urine specimens
2SC - Overview: S-(2-Succinyl)-Cysteine (2SC) Immunostain, Technical Component Only
Identification of high levels of aberrant S-(2-succino)-cysteine (2SC), secondary to pathogenic alterations of the fumarate hydratase (FH) gene
SUAC - Overview: Succinylacetone, Blood Spot
Second-tier newborn screen for tyrosinemia type 1 (HT-1) when primary screen showed nonspecific elevations of tyrosine Diagnosing HT-1 when used in conjunction with testing for urine organic acids, liver function, alpha-fetoprotein, and...
TQ10 - Overview: Coenzyme Q10, Total, Plasma
Diagnosis of primary coenzyme Q10 (CoQ10) deficiencies in some patients who are not supplemented with CoQ10 Monitoring patients receiving statin therapy Monitoring CoQ10 status during treatment of various degenerative conditions,...
HCMM - Overview: Homocysteine (Total), Methylmalonic Acid, and Methylcitric Acid, Blood Spot
Second-tier assay of newborn screening specimens when abnormal propionyl carnitine or methionine concentrations are identified in a primary newborn screen
JAK2V - Overview: JAK2 V617F Mutation Detection, Varies
Aiding in the distinction between a reactive blood cytosis and a chronic myeloproliferative disorder using extracted DNA specimens
PLABN - Overview: Platelet Antibody Screen, Serum
Detecting alloantibodies to epitopes on platelet glycoproteins IIb/IIIa, Ib/Ix, Ia/IIa, IV and class I human leukocyte antigens to evaluate cases of immune mediated refractoriness to platelet transfusions, posttransfusion purpura, or...
Diagnostic workup of patients with a high probability of BCR-ABL1-positive hematopoietic neoplasms, particularly acute lymphoblastic leukemia (B-lymphoblastic leukemia), to provide a pretreatment quantitative level of BCR-ABL1 mRNA...
BMIPB - Overview: Borrelia miyamotoi Detection, PCR, Blood
Aiding in the diagnosis of Borrelia miyamotoi infection in conjunction with clinical findings Preferred method for detection of B miyamotoi using blood specimens
MSFNG - Overview: Fibronectin Glomerulopathy Confirmation, Mass Spectrometry
Aiding in the diagnosis of fibronectin glomerulopathy
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....