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T46IS - Overview: Tripartite Motif-Containing Protein 46 (TRIM46) IgG, Tissue Immunofluorescence, Serum

Detecting tripartite motif-containing protein 46 (TRIM46)-IgG in serum specimens Evaluation of an autoimmune/paraneoplastic neurological syndrome among patients presenting with cerebellar ataxia, encephalitis, or encephalomyelitis

T46IC - Overview: Tripartite Motif-Containing Protein 46 (TRIM46) IgG, Tissue Immunofluorescence, Spinal Fluid

Detecting tripartite motif-containing protein 46 (TRIM46)-IgG in cerebrospinal fluid specimens Evaluation of an autoimmune/paraneoplastic neurological syndrome among patients presenting with cerebellar ataxia, encephalitis, or...

T46TS - Overview: Tripartite Motif-Containing Protein 46 (TRIM46) IgG, Tissue Immunofluorescence Titer, Serum

Reporting an end titer result for tripartite motif-containing protein 46 (TRIM46)-IgG in serum specimens Evaluation of an autoimmune/paraneoplastic neurological syndrome among patients presenting with cerebellar ataxia, encephalitis, or...

T46TC - Overview: Tripartite Motif-Containing Protein 46 (TRIM46) IgG, Tissue Immunofluorescence Titer, Spinal Fluid

Reporting an end-titer result for tripartite motif-containing protein 46 (TRIM46)-IgG in cerebrospinal fluid specimens Evaluation of an autoimmune/paraneoplastic neurological syndrome among patients presenting with cerebellar ataxia,...

TRYPA - Overview: Tryptase, Autopsy, Serum

Evaluation of autopsy cases in which anaphylaxis in the context of allergen exposure or mast cell activation is a suspected cause of death

TICU - Overview: Titanium/Creatinine Ratio, Urine

Measurement of titanium concentration as part of a profile to assess exposure and elimination of titanium

ZONI - Overview: Zonisamide, Serum

Monitoring zonisamide therapy; recommended for all patients to ensure appropriate dosing Assessing medication compliance

EZNT8 - Overview: Zinc Transporter 8 (ZnT8) Antibody, Serum

Clinical distinction of type 1 from type 2 diabetes mellitus Identification of individuals at risk of type 1 diabetes (including high-risk relatives of patients with diabetes, and those with gestational diabetes) Prediction of future need...

NAGR - Overview: Hexosaminidase A and Total, Leukocytes/Molecular Reflex, Whole Blood

Carrier detection and diagnosis of Tay-Sachs disease Carrier detection and diagnosis of Sandhoff disease

INFXR - Overview: Infliximab Quantitation with Reflex to Antibodies to Infliximab, Serum

Trough level quantitation for evaluation of patients undergoing therapy with infliximab, with signs and symptoms of loss of response to therapy.

VHPV - Overview: Human Papillomavirus (HPV) Vaginal Detection with Genotyping for High-Risk Types by PCR

Detection of high-risk (HR) genotypes associated with the development of cervical cancer Aids in triaging women with abnormal Pap smear results Individual genotyping of human papillomavirus (HPV)-16 and/or HPV-18 if present Results of...

CRTS1 - Overview: Creatinine with Estimated Glomerular Filtration Rate (eGFR), Serum

Diagnosing and monitoring treatment of acute and chronic kidney diseases Adjusting dosage of renally excreted medications Monitoring kidney transplant recipients Estimating glomerular filtration rate for people with chronic kidney...

G6PD1 - Overview: Glucose 6-Phosphate Dehydrogenase Enzyme Activity, Blood

Evaluation of individuals with episodic or chronic Coombs-negative nonspherocytic hemolytic anemia Rapid testing to assess glucose 6-phosphate dehydrogenase (G6PD) enzyme capacity prior to rasburicase or other therapies that may cause...

NGBCL - Overview: MayoComplete B-Cell Lymphoma, Next-Generation Sequencing, Varies

Aiding in establishing diagnosis, refining prognosis, and potentially identifying targeted therapies for the optimal management of patients with B-cell lymphomas

WARSQ - Overview: Warfarin Response Genotype, Varies

Identifying patients who may require warfarin dosing adjustments(3,4) including: -Patients being started on a first prescription for warfarin -Patients who have previously been prescribed warfarin and have required multiple dosing...

MPSWB - Overview: Mucopolysaccharidosis, Blood

Supporting the biochemical diagnosis of mucopolysaccharidoses type I, II, III, IV, or VI Quantification of heparan sulfate, dermatan sulfate, and keratan sulfate in whole blood specimens

MPSBS - Overview: Mucopolysaccharidosis, Blood Spot

Supporting the biochemical diagnosis of mucopolysaccharidoses types I, II, III, IV, or VI Quantification of heparan sulfate, dermatan sulfate, and keratan sulfate in dried blood spot specimens

HBOCZ - Overview: BRCA1/BRCA2 Genes, Full Gene Analysis, Varies

Evaluating patients with a personal or family history suggestive of hereditary breast and ovarian cancer (HBOC) syndrome Establishing a diagnosis of HBOC syndrome allowing for targeted cancer surveillance based on associated risks...

LYNCP - Overview: Lynch Syndrome Panel, Varies

Establishing a diagnosis of Lynch syndrome or constitutional mismatch repair deficiency allowing for targeted cancer surveillance based on associated risks Identifying MLH1, MSH2, MSH6, PMS2, or EPCAM variants to allow for predictive...

PRS8P - Overview: Hereditary Prostate Cancer Panel, Varies

Evaluating patients with a personal or family history suggestive of a hereditary prostate cancer syndrome Establishing a diagnosis of a hereditary prostate cancer syndrome allowing for targeted cancer surveillance based on associated...

ARSAW - Overview: Arylsulfatase A, Leukocytes

Preferred enzymatic test for detection of arylsulfatase A deficiency This test is not suitable for carrier detection.

MPS2Z - Overview: Hunter Syndrome, Full Gene Analysis, Varies

Confirmation of a diagnosis of mucopolysaccharidosis type II (Hunter syndrome) Carrier testing when there is a family history of mucopolysaccharidosis type II (Hunter syndrome), but disease-causing variants have not been previously...

MCADZ - Overview: Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency Full Gene Analysis, Varies

Confirmation of diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency (as a follow-up to biochemical analyses) Screening of at-risk carriers of MCAD deficiency when an affected relative has not had molecular testing Diagnosis...

PLAFL - Overview: Platelet Surface Glycoprotein by Flow Cytometry, Blood

Identification of markedly decreased CD41 (GPIIb) and CD61 (GPIIIa) expression levels, which are diagnostic for Glanzmann thrombasthenia Identification of markedly decreased CD42a (GPIX) and CD42b (GPIb-alpha) expression levels, which are...

PD2T - Overview: Pompe Disease Second-Tier Newborn Screening, Blood Spot

Second-tier testing of newborns with an abnormal primary screening result for Pompe disease (decreased acid alpha-glucosidase enzyme activity) Follow-up testing for evaluation of an abnormal newborn screening result for Pompe disease

LMPP - Overview: Lipoprotein Metabolism Profile, Serum

Diagnosing dyslipoproteinemia Quantifying cholesterol and triglycerides in very-low-density lipoprotein, low-density lipoprotein (LDL), high-density lipoproteins (HDL), and chylomicrons Identifying lipoprotein-X Classifying...

MSH6 - Overview: MSH6 Immunostain, Technical Component Only

Identifying patients at high risk for having hereditary nonpolyposis colorectal cancer, also known as Lynch syndrome, in an immunopanel including MSH6 and other mismatch repair markers Evaluation of tumor tissue to identify patients at...

MSH2 - Overview: MSH2 Immunostain, Technical Component Only

Identifying patients at high risk for having hereditary nonpolyposis colorectal cancer, also known as Lynch syndrome, in an immunopanel including MSH2 and other mismatch repair markers Evaluation of tumor tissue to identify patients at...

2C9QT - Overview: Cytochrome P450 2C9 Genotype, Varies

Identifying individuals who may be at risk for altered metabolism of drugs that are modified by cytochrome P450 2C9

CTNBT - Overview: B-Catenin Mutation Analysis, Next-Generation Sequencing, Tumor

Distinguishing desmoid-type fibromatosis from other soft tissue tumors by assessing gene targets within the beta-catenin (CTNNB1) gene

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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....