NFLP - Overview: Neurofilament Light Chain, Plasma
Assessing neuronal damage related to various neurodegenerative diseases
NCDA - Overview: Congenital Dyserythropoietic Anemia Gene Panel, Next-Generation Sequencing, Varies
Confirming the diagnosis or carrier variant status of genes associated with congenital dyserythropoietic anemia Identifying variants within genes associated with phenotypic severity, allowing for predictive testing and further genetic...
CASRG - Overview: CASR Full Gene Sequencing with Deletion/Duplication, Varies
Providing a genetic evaluation of individuals with a personal or family history of familial hypocalciuric hypercalcemia, neonatal severe primary hyperparathyroidism, or autosomal dominant hypoparathyroidism (autosomal dominant...
CAH21 - Overview: Congenital Adrenal Hyperplasia (CAH) Profile for 21-Hydroxylase Deficiency, Serum
Preferred screening test for congenital adrenal hyperplasia (CAH) caused by 21-hydroxylase deficiency Part of a battery of tests to evaluate women with hirsutism or infertility, which can result from adult-onset CAH
CARGG - Overview: Comprehensive Arrhythmia Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of a hereditary form of cardiac arrhythmia Establishing a diagnosis of a hereditary form of cardiac arrhythmia
DMDZ - Overview: DMD Gene, Full Gene Analysis, Varies
Establishing a molecular diagnosis for patients with Duchenne muscular dystrophy and Becker muscular dystrophy Identifying variants within DMD known to be associated with Duchenne muscular dystrophy or Becker muscular dystrophy, allowing...
HYPTG - Overview: Hypertriglyceridemia Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of hereditary forms of primary hypertriglyceridemia and related conditions.
HCMGG - Overview: Hypertrophic Cardiomyopathy Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of a hereditary form of hypertrophic cardiomyopathy Establishing a diagnosis of a hereditary form of hypertrophic cardiomyopathy
SMCP - Overview: Inherited Skeletal Muscle Channelopathy Gene Panel, Varies
Establishing a molecular diagnosis for patients with a skeletal muscle channelopathy Identifying variants within genes known to be associated with a skeletal muscle channelopathy allowing for predictive testing of at-risk family members
PFAPE - Overview: Fatty Acid Profile, Essential, Plasma
Evaluating the nutritional intake and intestinal absorption of essential fatty acids using plasma specimens Identifying deficiency of essential and other nutritionally beneficial fatty acids Monitoring treatment of patients with essential...
NENZ - Overview: Red Blood Cell Enzyme Disorders Gene Panel, Next-Generation Sequencing, Varies
Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of an underlying red blood cell enzymopathy Identifying variants within genes associated with phenotypic severity, allowing for...
FUNSF - Overview: Fungitell, CSF
Fungitell, CSF
FROS2 - Overview: Fructose, Qualitative, Semen
Establishing the origin of azoospermia in patients with azoospermia and low volume ejaculates
FMYO3 - Overview: MyoMarker 3 Profile
MyoMarker 3 Profile
FMMPP - Overview: MyoMarker 3 Plus Profile
MyoMarker 3 Plus Profile
FIGF1 - Overview: IGF-1, LC/MS
IGF-1, LC/MS
AMOBS - Overview: Amobarbital, Serum
Monitoring amobarbital therapy
GLUR1 - Overview: Glucose, Random, Urine
Limited usefulness for routine screening or management of diabetes mellitus
UOSMS - Overview: Osmolality, Serum
Evaluating acutely ill or comatose patients
RUFI - Overview: Rufinamide, Serum
Monitoring serum rufinamide concentrations, assessing compliance, and adjusting dosage in patients receiving other drugs that interact pharmacokinetically with rufinamide (ie, drugs that induce liver CYP3A4 enzymes) and may be helpful in...
GNPRC - Overview: Protein C Deficiency, PROC Gene, Next-Generation Sequencing, Varies
Evaluating protein C deficiency in patients with a personal or family history suggestive of this hereditary thrombophilia Confirming a diagnosis of autosomal dominant protein C deficiency with the identification of a known or suspected...
PMCAG - Overview: Postmortem Cardiomyopathy and Arrhythmia Gene Panel, Tissue
Providing a comprehensive postmortem genetic evaluation in the setting of a sudden death attributed to cardiomyopathy or suspicious for cardiac arrhythmia or with a personal or family history suggestive of a hereditary form of...
PHI11 - Overview: Prostate Health Index Reflex, Serum
As an aid in distinguishing prostate cancer from benign prostatic conditions in men aged 50 years and older with total PSA between 4.0 and 10.0 ng/mL and digital rectal examination findings that are not suspicious for cancer
3MGAP - Overview: 3-Methylglutaconic Aciduria Panel, Varies
Follow up for abnormal biochemical results suggestive of 3-methylglutaconic aciduria (3-MGA) Establishing a molecular diagnosis for patients with 3-MGA Identifying variants within genes known to be associated with3-MGA, allowing for...
WNDZ - Overview: Wilson Disease, ATP7B Full Gene Sequencing with Deletion/Duplication, Varies
Confirming the diagnosis of Wilson disease
MDYSP - Overview: Inherited Muscular Dystrophy Gene Panel, Varies
Establishing a molecular diagnosis for patients with muscular dystrophy Identifying variants within genes known to be associated with muscular dystrophy, allowing for predictive testing of at-risk family members
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...
HEXBZ - Overview: Sandhoff Disease, HEXB Gene, Full Gene Analysis, Varies
Follow up for abnormal biochemical results suggestive of Sandhoff disease Establishing a molecular diagnosis for patients with Sandhoff disease Identifying variants within genes known to be associated with Sandhoff disease, allowing for...
PMCMG - Overview: Postmortem Cardiomyopathy Gene Panel, Tissue
Providing a comprehensive postmortem genetic evaluation in the setting of a sudden death attributed to cardiomyopathy or with a personal or family history suggestive of a hereditary form of cardiomyopathy Identifying a disease-causing...
TCRB - Overview: T-Cell Receptor V-Beta Repertoire Analysis, Spectratyping, Blood
Assessment of T-cell receptor diversity in various clinical contexts including inborn errors of immunity (formerly primary immunodeficiencies), monitoring immune reconstitution post-hematopoietic stem cell transplantation, and temporal...
HIESG - Overview: Hyper-IgE Syndrome Gene Panel, Varies
Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of hyper-IgE syndrome (HIES) Establishing a diagnosis of HIES, allowing for appropriate management and surveillance for disease features...
BRGYP - Overview: Hereditary Breast/Gynecologic Cancer Panel, Varies
Evaluating patients with a personal or family history suggestive of a hereditary breast or gynecological cancer syndrome Establishing a diagnosis of a hereditary breast or gynecological cancer syndrome allowing for targeted cancer...
HPGLP - Overview: Hereditary Paraganglioma/Pheochromocytoma Panel, Varies
Evaluating patients with a personal or family history suggestive of a hereditary paraganglioma and pheochromocytoma (PGL/PCC) syndrome Establishing a diagnosis of a hereditary PGL/PCC, allowing for targeted surveillance based on...
CRCGP - Overview: Hereditary Gastrointestinal Cancer Panel, Varies
Evaluating patients with a personal or family history suggestive of a hereditary gastrointestinal cancer or hereditary polyposis syndrome Establishing a diagnosis of a hereditary gastrointestinal cancer syndrome or hereditary polyposis...
PANCP - Overview: Hereditary Pancreatic Cancer Panel, Varies
Evaluating patients with a personal or family history suggestive of a hereditary pancreatic cancer syndrome Establishing a diagnosis of a hereditary pancreatic cancer syndrome, allowing for targeted cancer surveillance based on associated...
HMEP - Overview: Hemiplegic Migraine With or Without Epilepsy Gene Panel, Varies
Establishing a molecular diagnosis in individuals with hemiplegic migraine Identifying disease-causing variants within genes known to be associated with hemiplegic migraine, allowing for predictive testing of at-risk family members
THYRP - Overview: Hereditary Thyroid Cancer Panel, Varies
Evaluating patients with a personal or family history suggestive of a hereditary thyroid cancer syndrome Establishing a diagnosis of a hereditary thyroid cancer syndrome, allowing for targeted surveillance based on associated...
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
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
GA2P - Overview: Glutaric Aciduria Type II Gene Panel, Varies
Follow up for abnormal biochemical results suggestive of glutaric acidemia type II Establishing a molecular diagnosis for patients with glutaric acidemia type II Identifying variants within genes known to be associated with glutaric...
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...
ISPP - Overview: Inherited Spastic Paraplegia Gene Panel, Varies
Establishing a molecular diagnosis for patients with hereditary spastic paraplegia Identifying variants within genes known to be associated with hereditary spastic paraplegia, allowing for predictive testing of at-risk family members
Establishing a molecular diagnosis for patients with limb-girdle muscular dystrophy or congenital myasthenic syndrome Identifying variants within genes known to be associated with limb-girdle muscular dystrophy or congenital myasthenic...
MNDP - Overview: Inherited Motor Neuron Disease Gene Panel, Varies
Establishing a molecular diagnosis for patients with motor neuron disease Identifying variants within genes known to be associated with motor neuron disease, allowing for predictive testing of at-risk family members
PARDP - Overview: Inherited Parkinson Disease Gene Panel, Varies
Establishing a molecular diagnosis for patients with Parkinson disease Identifying variants within genes known to be associated with Parkinson disease, allowing for predictive testing of at-risk family members
MFRGG - Overview: Marfan, Loeys-Dietz, and Aortopathy Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of Marfan syndrome and related conditions Establishing a diagnosis for Marfan syndrome, Loeys-Dietz syndrome, vascular Ehlers-Danlos syndrome,...
GNANT - Overview: Antithrombin Deficiency, SERPINC1 Gene, Next-Generation Sequencing, Varies
Evaluating antithrombin AT deficiency in patients with a personal or family history suggestive of this hereditary thrombophilia Confirming an AT deficiency diagnosis with the identification of a known or suspected disease-causing...
APGP - Overview: Acute Porphyria Gene Panel, Varies
Establishing a molecular diagnosis for patients with acute porphyria Identifying variants within genes known to be associated with acute porphyria, allowing for predictive testing of at-risk family members
ANST - Overview: Androstenedione, Serum
Diagnosis and differential diagnosis of hyperandrogenism, in conjunction with measurements of other sex steroids Diagnosis of congenital adrenal hyperplasia (CAH), in conjunction with measurement of other androgenic precursors,...
CVHBG - Overview: Comprehensive Cerebrovascular Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of a monogenic condition in which there is an increased risk for a cerebrovascular accident Establishing a diagnosis of a monogenic condition in which...
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....