RETZZ - Overview: Multiple Endocrine Neoplasia Type 2 Syndrome, RET, Full Gene Analysis, Varies
Evaluating patients with a personal or family history suggestive of a multiple endocrine neoplasia type 2 (MEN2) or Hirschsprung disease (HSCR) Establishing a diagnosis of MEN2 or HSCR allowing for targeted cancer surveillance based on...
MCP2Z - Overview: MECP2 Gene, Full Gene Analysis, Varies
Establishing a molecular diagnosis in individuals with features of Rett syndrome and MECP2-related disorders Identifying pathogenic variants within the MECP2 gene known to be associated with Rett syndrome and MECP2-related disorders,...
NTC3Z - Overview: NOTCH3 Gene, Full Gene Analysis, Varies
Establishing a molecular diagnosis in individuals with features of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and NOTCH3-related disorders Identifying disease-causing variants...
NCLGP - Overview: Neuronal Ceroid Lipofuscinosis (Batten Disease) Gene Panel, Varies
Follow up for abnormal biochemical or electron microscopy results suspicious for neuronal ceroid lipofuscinoses (NCL) Establishing a molecular diagnosis for patients with NCL Identifying variations within genes known to be associated with...
TYRGP - Overview: Tyrosine Disorders Gene Panel, Varies
Follow up for abnormal biochemical results suggestive of a tyrosine disorder Establishing a molecular diagnosis for patients with tyrosine disorders Identifying variants within genes known to be associated with tyrosine disorders,...
BRTP - Overview: Rapid Hereditary Breast Cancer Treatment Decision Panel, Varies
Establishing a diagnosis of a hereditary breast cancer syndrome allowing for surgical and management decision making Determining therapeutic eligibility with poly (adenosine diphosphate-ribose) polymerase inhibitors based on certain gene...
Providing a genetic evaluation for patients with a personal or family history suggestive of a hereditary form of dilated cardiomyopathy or left ventricular noncompaction Establishing a diagnosis of a hereditary form dilated cardiomyopathy...
CCMGG - Overview: Comprehensive Cardiomyopathy Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of a hereditary form of cardiomyopathy Establishing a diagnosis of a hereditary form of cardiomyopathy
CACMG - Overview: Comprehensive Arrhythmia and Cardiomyopathy Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of a hereditary form of either a cardiomyopathy or cardiac arrhythmia Establishing a diagnosis of a hereditary form of either a cardiomyopathy or...
CYSGP - Overview: Cystinuria Gene Panel, Varies
Follow up for abnormal biochemical results suggestive of cystinuria Establishing a molecular diagnosis for patients with cystinuria Identifying variants within genes known to be associated with cystinuria, allowing for predictive testing...
Providing a genetic evaluation for patients with a personal or family history suggestive of a hereditary form of nephrocalcinosis, nephrolithiasis, or renal electrolyte imbalance Establishing a diagnosis for a variety of hereditary...
RABMP - Overview: Inherited Rhabdomyolysis and Metabolic Myopathy Panel, Varies
Establishing a molecular diagnosis for patients with rhabdomyolysis and metabolic myopathy Identifying variants within genes known to be associated with rhabdomyolysis and metabolic myopathy, allowing for predictive testing of at-risk...
Providing a genetic evaluation for patients with a personal or family history suggestive of recessive congenital methemoglobinemia Genotype confirmation of borderline cytochrome b5 reductase (methemoglobin reductase: METR) enzyme activity...
Providing a genetic evaluation for patients with a personal or family history of steroid resistant nephrotic syndrome (SRNS) Establishing a diagnosis of hereditary SRNS Guiding treatment decisions in individuals with nephrotic syndrome
As part of the diagnosis and workup of precocious and delayed puberty in females and, to a lesser degree, males As part of the diagnosis and workup of suspected disorders of sex steroid metabolism (eg, aromatase deficiency and 17...
UOSMU - Overview: Osmolality, Random, Urine
Assessing the concentrating and diluting ability of the kidney
UREDF - Overview: Reducing Substance, Feces
Assisting in the differentiation between osmotic and nonosmotic diarrhea Screening test for: -Diarrhea from disaccharidase deficiencies, (eg, lactase deficiency) -Monosaccharide malabsorption
TRSF - Overview: Transferrin, Serum
Evaluation of iron overload diseases Evaluation of iron deficiency as a cause of anemia
HK1 - Overview: Hexokinase Enzyme Activity, Blood
The evaluation of individuals with Coombs-negative chronic hemolysis
HKC - Overview: Hexokinase Enzyme Activity, Blood
The evaluation of individuals with Coombs-negative chronic hemolysis
Determining iodine overload using serum specimens Monitoring iodine levels in individuals taking iodine-containing drugs
SECOS - Overview: Secobarbital, Serum
Monitoring secobarbital therapy
CZPS - Overview: Clonazepam and 7-Aminoclonazepam, Serum
Assessing patient compliance Monitoring for appropriate therapeutic level Assessing clonazepam toxicity
Assessing cytomegalovirus (CMV)-specific immune competence in allo-hematopoietic stem cell transplantation patients who are at risk for developing late CMV disease (beyond day 100 after transplant) Assessing CMV-specific immune competence...
SAT - Overview: Percent Saturation
Calculation of percent saturation
PENTS - Overview: Pentobarbital, Serum
Monitoring of pentobarbital therapy treatment
SUBIF - Overview: Immunoglobulin G (IgG) Subtypes Immunofluorescence, Tissue
Determining the subclass of IgG antibody found in renal immunofluorescent panel and determining if the deposits are monoclonal or monotypic
RAMIK - Overview: Amikacin, Random, Serum
Monitoring adequacy of blood concentration during amikacin therapy
PAMIK - Overview: Amikacin, Peak, Serum
Monitoring adequacy of serum concentration during amikacin therapy
RTSC - Overview: Reptilase Time, Plasma
Evaluation of a prolonged thrombin time (TT): It is mainly used to confirm or exclude the presence of heparin in the specimen or specimen type Evaluating hypofibrinogenemia or dysfibrinogenemia in conjunction with the TT and fibrinogen...
MEPHS - Overview: Mephobarbital and Phenobarbital, Serum
Monitoring of mephobarbital and phenobarbital therapy
PGK1 - Overview: Phosphoglycerate Kinase Enzyme Activity, Blood
Evaluation of individuals with Coombs-negative nonspherocytic hemolytic anemia, especially if X-linked inheritance pattern Evaluation of individuals with myopathic or neurologic symptoms
PMAOG - Overview: Postmortem Aortopathy Gene Panel, Tissue
Providing a comprehensive postmortem genetic evaluation in the setting of a sudden death attributed to thoracic aortic dissection or with a personal or family history suggestive of Marfan syndrome, Loeys-Dietz syndrome, thoracic aortic...
PHEGP - Overview: Phenylalanine Disorders Gene Panel, Varies
Follow up for abnormal biochemical results suggestive of a phenylalanine disorder Establishing a molecular diagnosis for patients with phenylalanine disorders Identifying variants within genes known to be associated with phenylalanine...
PDGP - Overview: Peroxisomal Disorder Gene Panel, Varies
Follow up of abnormal biochemical result, usually very long-chain fatty acid test consistent with peroxisomal disorder Establishing a molecular diagnosis for patients with peroxisomal disorders Identifying variants within genes known to...
OIBFG - Overview: Osteogenesis Imperfecta and Bone Fragility Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive osteogenesis imperfecta and other hereditary conditions associated with bone fragility
GNPRS - Overview: Protein S Deficiency, PROS1 Gene, Next-Generation Sequencing, Varies
Evaluating protein S deficiency in patients with a personal or family history suggestive of this hereditary thrombophilia Confirming a diagnosis of autosomal dominant protein S deficiency with the identification of a known or suspected...
TSCP - Overview: Tuberous Sclerosis Gene Panel, Varies
Establishing a molecular diagnosis in individuals with features of tuberous sclerosis complex (TSC). Identifying pathogenic variants within the TSC1 and TSC2 genes known to be associated with TSC, allowing for predictive testing of at-risk...
VIRID - Overview: Viral Susceptibility, Defects in Intrinsic and Innate Immunity, Gene Panel, Varies
Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of an inborn error of immunity causing a hereditary form of severe viral susceptibility Establishing a diagnosis of hereditary form of...
LPAGF - Overview: Lymphocyte Proliferation to Antigens, Blood
Assessing T-cell function in patients on immunosuppressive therapy, including solid-organ transplant patients Evaluating patients suspected of having impairment in cellular immunity Evaluation of T-cell function in patients with primary...
CHDGG - Overview: Congenital Heart Disease Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history of congenital heart disease Establishing a diagnosis of a genetic condition associated with congenital heart disease
HLHGP - Overview: Primary Hemophagocytic Lymphohistiocytosis Gene Panel, Varies
Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of familial hemophagocytic lymphohistiocytosis (F-HLH) Establishing a diagnosis of F-HLH, allowing for appropriate management and...
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...
COMCP - Overview: Hereditary Common Cancer Panel, Varies
Evaluating hereditary cancer for patients with a personal or family history suggestive of a hereditary cancer syndrome using a panel of 36 genes Establishing a diagnosis of a hereditary cancer syndrome allowing for targeted cancer...
XCP - Overview: Hereditary Expanded Cancer Panel, Varies
Evaluating hereditary cancer in patients with a personal or family history suggestive of a hereditary cancer syndrome using a panel of 87 genes Establishing a diagnosis of a hereditary cancer syndrome allowing for targeted cancer...
NHHA - Overview: Hereditary Hemolytic Anemia Gene Panel, Next-Generation Sequencing, Varies
Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of hereditary hemolytic anemias, including red blood cell (RBC) membrane/hydration disorders, RBC enzymopathies, and congenital...
GSDGP - Overview: Glycogen Storage Disease Gene Panel, Varies
Follow up of abnormal biochemical results consistent with glycogen storage disease (GSD) Establishing a molecular diagnosis for patients with GSD Identifying variants within genes known to be associated with GSD allowing for predictive...
HFAOP - Overview: Fatty Acid Oxidation Gene Panel, Varies
Follow up for abnormal biochemical results suggestive of a fatty acid oxidation disorder Establishing a molecular diagnosis for patients with a fatty acid oxidation disorder Identifying variants within genes known to be associated with a...
ATAXP - Overview: Inherited Ataxia Gene Panel, Varies
Establishing a molecular diagnosis for patients with ataxia Identifying variants within genes known to be associated with ataxia, allowing for predictive testing of at-risk family members
KETGP - Overview: Ketone Disorders Gene Panel, Varies
Follow up for abnormal biochemical results suggestive of a ketone disorder Establishing a molecular diagnosis for patients with ketone disorders Identifying variants within genes known to be associated with ketone disorders, allowing for...
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....