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...
GNF11 - Overview: Hemophilia C (Factor XI Deficiency), F11 Gene, Next-Generation Sequencing, Varies
Evaluating factor XI deficiency (FXID) in patients with a personal or family history suggestive of FXID Confirming an FXID diagnosis with the identification of known or suspected disease-causing alterations in the F11 gene Determining...
ENDCP - Overview: Hereditary Endocrine Cancer Panel, Varies
Evaluating patients with a personal or family history suggestive of a hereditary endocrine tumor syndrome Establishing a diagnosis of a hereditary endocrine tumor syndrome, allowing for targeted surveillance based on associated risks...
GNANG - Overview: Hereditary Angioedema Focused Gene Panel, Next-Generation Sequencing, Varies
Evaluating hereditary angioedema (HAE) with normal C1 inhibitor (C1INH) in patients with a suggestive personal or family history Confirming a diagnosis of HAE with normal C1INH with the identification of a known or suspected...
GNF7 - Overview: Factor VII Deficiency, F7 Gene, Next-Generation Sequencing, Varies
Evaluating factor VII deficiency (FVIID) in patients with a personal or family history suggestive of FVIID Confirming an FVIID diagnosis with the identification of known or suspected disease-causing alterations in the F7 gene...
GNF13 - Overview: Factor XIII Deficiency, F13A1 and F13B Genes, Next-Generation Sequencing, Varies
Evaluating factor XIII deficiency (FXIIID) in patients with a personal or family history suggestive of FXIIID Confirming an FXIIID diagnosis with the identification of known or suspected disease-causing alterations in the F13A1 or F13B...
LSD6W - Overview: Lysosomal Storage Disorders, Six-Enzyme Panel, Leukocytes
Diagnosis of the lysosomal storage disorders: Fabry (in male patients), Gaucher, Krabbe, mucopolysaccharidosis I (MPS I), acid sphingomyelinase deficiency (Niemann-Pick types A and B), and Pompe (glycogen storage disorder type II) This...
SCN5A - Overview: Brugada Syndrome, SCN5A Full Gene Analysis, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of Brugada syndrome Establishing a diagnosis of Brugada syndrome
PEPAN - Overview: Comprehensive Peripheral Neuropathy Gene Panel, Varies
Establishing a molecular diagnosis for patients with peripheral neuropathy Identifying variants within genes known to be associated with peripheral neuropathy, allowing for predictive testing of at-risk family members
Providing a genetic evaluation for patients with a personal or family history suggestive of hereditary aortic disease Establishing a diagnosis for a variety of hereditary conditions involving aortic disease or overlapping clinical...
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...
NSRGG - Overview: Noonan Syndrome and Related Conditions Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of Noonan syndrome, Noonan syndrome with multiple lentigines, Noonan syndrome with loose anagen hair, cardiofaciocutaneous syndrome, Costello syndrome,...
GNPFD - Overview: Platelet Function Defect Gene Panel, Next-Generation Sequencing, Varies
Diagnosing hereditary platelet function defect disorders for patients who have a distinct platelet function defect pattern, such as Bernard-Soulier syndrome, revealed by laboratory phenotypic testing Confirming a hereditary platelet...
NMITO - Overview: Nuclear Mitochondrial Gene Panel, Next-Generation Sequencing, Varies
Diagnosing the subset of mitochondrial disease that results from variants in the nuclear-encoded genes A second-tier test for patients in whom previous targeted gene variant analyses for specific mitochondrial disease-related genes were...
TELDP - Overview: Telomere Biology Disorders Gene Panel, Varies
Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of a telomere biology disorder Establishing a diagnosis of a telomere biology disorder, allowing for appropriate management and...
GNTHR - Overview: Thrombosis Disorders, Comprehensive Gene Panel, Next-Generation Sequencing, Varies
Evaluating hereditary thrombosis in patients with a personal or family history suggestive of a hereditary thrombosis disorder Confirming a hereditary thrombosis disorder diagnosis with the identification of a known or suspected pathogenic...
DWPAN - Overview: Comprehensive Distal Weakness Gene Panel, Varies
Establishing a molecular diagnosis for patients with distal weakness Identifying variants within genes known to be associated with distal weakness, allowing for predictive testing of at-risk family members
CDGGP - Overview: Congenital Disorders of Glycosylation Gene Panel, Varies
Establishing a molecular diagnosis for patients with congenital disorders of glycosylation Identifying variants within genes known to be associated with congenital disorders of glycosylation, allowing for predictive testing of at-risk...
CHLGP - Overview: Cholestasis Gene Panel, Varies
Establishing a molecular diagnosis for patients with monogenic cholestasis Identifying variants within genes known to be associated with primary, monogenic cholestasis, allowing for predictive testing of at-risk family members This panel...
Providing a genetic evaluation for patients with a personal or family history suggestive of atypical hemolytic uremic syndrome (aHUS), thrombotic microangiopathy (TMA), or complement 3 glomerulopathy (C3G) Establishing a diagnosis of...
HYPBG - Overview: Hypobetalipoproteinemia Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of familial hypobetalipoproteinemia
SCCNP - Overview: Severe Congenital and Cyclic Neutropenia Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of severe congenital neutropenia and/or cyclic neutropenia Establishing a diagnosis of an inherited congenital neutropenia and, in some cases,...
SSH24 - Overview: Supersaturation Profile, Self-Collect, 24 Hour, Urine
Diagnosis and management of patients with renal lithiasis: -Predicting the likely composition of the stone, in patients who have a radiopaque stone, for whom stone analysis is not available -May aid in designing a treatment program Aiding...
PSGN - Overview: Plasminogen Activity, Plasma
Evaluating patients with ligneous conjunctivitis (strong association with homozygous plasminogen deficiency) Evaluating fibrinolysis, in combination with other components of the fibrinolytic system (fibrinogen, tissue...
PKC - Overview: Pyruvate Kinase Enzyme Activity, Blood
Evaluation of nonspherocytic hemolytic anemia as a part of a profile Evaluation of neonatal anemia or jaundice Evaluation of unexplained noninfectious hepatic failure Evaluation of unexplained iron overload Evaluation of unusually...
PAX2 - Overview: PAX2 Immunostain, Technical Component Only
Aiding in the diagnosis of endocervical adenocarcinoma and renal cell carcinoma
PK1 - Overview: Pyruvate Kinase Enzyme Activity, Blood
Evaluation of nonspherocytic hemolytic anemia Evaluation of neonatal anemia or jaundice Evaluation of unexplained noninfectious hepatic failure Evaluation of unexplained iron overload Evaluation of unusually severe hemoglobin S...
PINS - Overview: Proinsulin, Plasma
As part of the diagnostic workup of suspected insulinoma As part of the diagnostic workup of patients with suspected prohormone convertase 1/3 deficiency As part of the diagnostic workup of patients with suspected proinsulin variations
TOXCG - Overview: Toxocara Antibody, IgG, Serum
Aiding in the diagnosis of Toxocara infection
TYROS - Overview: Tyrosinase (TYROS) Immunostain, Technical Component Only
Aiding in the identification of normal melanocytes and malignant melanoma
VALPG - Overview: Valproic Acid, Free and Total, Serum
Monitoring both total and free valproic acid levels in therapy Assessing compliance Evaluating potential toxicity
AMMO - Overview: Ammonium, 24 Hour, Urine
Diagnosis of the cause of acidosis Diagnosis and treatment of kidney stones
RB1 - Overview: Retinoblastoma Protein (Rb) Immunostain, Tech Only
Aids in the identification of high-grade neuroendocrine carcinomas and small cell carcinomas
CD79 - Overview: CD79a Immunostain, Technical Component Only
Phenotyping leukemias and lymphomas
PALD - Overview: Aldosterone, Plasma
Investigation of primary aldosteronism (eg, adrenal adenoma/carcinoma and adrenal cortical hyperplasia) and secondary aldosteronism (renovascular disease, salt depletion, potassium loading, cardiac failure with ascites, pregnancy, Bartter...
TTSC - Overview: Thrombin Time (Bovine), Plasma
Detecting or excluding the presence of heparin or heparin-like anticoagulants (which act by enhancing antithrombin's inhibition of thrombin and other procoagulant enzymes) when used in conjunction with the reptilase time (RT) in evaluating...
SES - Overview: Selenium, Serum
Monitoring selenium replacement therapy
Detecting zinc deficiency
HAD - Overview: Huntington Disease, Molecular Analysis, Varies
Molecular confirmation of clinically suspected cases of Huntington disease (HD) Presymptomatic testing for individuals with a family history of HD and a documented expansion in the HTT gene
HCQ - Overview: Hydroxychloroquine, Serum
Monitoring serum hydroxychloroquine concentrations, assessing compliance, and adjusting dosage in patients
HISME - Overview: Histone H3 Trimethyl K27 Immunostain, Technical Component Only
Diagnosis of malignant peripheral nerve sheath tumors and diffuse midline gliomas H3 K27M-mutant
FASC - Overview: Fascin Immunostain, Technical Component Only
Classification of lymphomas
FLI1 - Overview: FLI-1 Immunostain, Technical Component Only
Aiding in phenotyping endothelial-derived tumors, Ewing sarcoma, Merkel cell carcinoma, lung adenocarcinoma, melanoma, and erythroleukemia
EBV - Overview: Epstein-Barr Virus (EBV) In Situ Hybridization, Technical Component Only
Detection of Epstein-Barr virus (EBV)-encoded RNA in the diagnosis of EBV-associated conditions
EMICZ - Overview: Emicizumab, Modified One Stage Assay Factor VIII, Plasma
Monitoring compliance or potential development of an antidrug antibody This assay is not indicated for monitoring factor VIII infusions or for making a diagnosis of hemophilia.
JCHAI - Overview: J-Chain Immunostain, Technical Component Only
Classification of lymphomas
KIT - Overview: KIT Immunostain, Technical Component Only
Aids in the identification of gastrointestinal stromal tumors
IA2 - Overview: Islet Antigen 2 (IA-2) 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) Prediction of future need for insulin treatment in...
MTAP - Overview: Methylthioadenosine Phosphorylase (MTAP) Immunostain, Tech Only
Aiding in the diagnosis of malignant mesothelioma
MMAP - Overview: Methylmalonic Acid, Quantitative, Plasma
Evaluating children with signs and symptoms of methylmalonic acidemia using plasma specimens Evaluating individuals with signs and symptoms associated with a variety of causes of vitamin B12 (cobalamin) deficiency
Mayo Clinic Staff Members Honored in ASCP's "40 under Forty" - Insights
Clinical Pathology (ASCP) has announced the 2017 “40 under Forty” honorees. Each year, the Selection Committee identifies 40 ASCP members under the age of 40 who are recognized for being future pathology and...
D., named to Business Insider's list of 30 under 40 working to transform health care - Insights
Since the pandemic hit, she's spent a great deal of time vetting antibody tests and has set up a COVID-19 testing program at Mayo Clinic.
Mayo Clinic Laboratory and Pathology Research Roundup: March 13 - Insights
evolution of giant cell arteritis with a prospective study of follow-up temporal artery biopsies in 40 treated patients....
High School Students Experience Laboratory Professional Careers - Insights
Last month in Rochester, the Mayo Clinic School of Health Sciences welcomed 40 Minnesota high school juniors and seniors to tour various areas of the Mayo Clinic campus as a part of this year’s Career...
Yuma Regional Medical Center: Changing perceptions and powering growth - Insights
leaders, resulting in a changed perception of the laboratory’s ability to drive profitability and a $40 million capital investment in laboratory infrastructure....