BWRS - Overview: Beckwith-Wiedemann Syndrome/Russell-Silver Syndrome, Molecular Analysis, Varies

Confirming a clinical diagnosis of Beckwith-Wiedemann syndrome (BWS) or Russell-Silver syndrome (RSS) Prenatal diagnosis if there is a high suspicion of BWS/RSS based on ultrasound findings or in families at risk for BWS/RSS This assay...

ALPSG - Overview: Autoimmune Lymphoproliferative Syndrome (ALPS) Gene Panel, Varies

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of autoimmune lymphoproliferative syndrome (ALPS) or related disorders Establishing a diagnosis of ALPS or a related disorder, allowing...

ADEVL - Overview: Alzheimer Disease Evaluation, Spinal Fluid

Assessment of adults with cognitive impairment being evaluated for Alzheimer disease and other causes of cognitive impairment These assays should not be used to predict the development of dementia or other neurologic conditions or to...

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

MUPAN - Overview: Comprehensive Neuromuscular Gene Panel, Varies

Establishing a molecular diagnosis for patients with a neuromuscular disorder Identifying variants within genes known to be associated with neuromuscular disorders allowing for predictive testing of at-risk family members

PCDGG - Overview: Primary Ciliary Dyskinesia Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of primary ciliary dyskinesia Establishing a diagnosis of primary ciliary dyskinesia

PCGP - Overview: Porphyria Comprehensive Gene Panel, Varies

Follow up for abnormal biochemical results suggestive of porphyria Establishing a molecular diagnosis for patients with porphyria Identifying variants within genes known to be associated with porphyria, allowing for predictive testing of...

DMNES - Overview: Peripheral Nervous System Demyelinating Neuropathy, Autoimmune Evaluation, Serum

Evaluating patients with a suspected immune-mediated demyelinating peripheral neuropathy

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...

CGPH - Overview: Custom Gene Panel, Hereditary, Next-Generation Sequencing, Varies

Customization of existing next-generation sequencing panels offered through Mayo Clinic Laboratories Detection single nucleotide and copy number variants in a custom gene panel Identification of a pathogenic variant may assist with...

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...

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...

TTRZ - Overview: TTR Gene, Full Gene Analysis, Varies

Establishing a molecular diagnosis for patients with amyloidosis Identifying variants within TTR known to be associated with amyloidosis, allowing for predictive testing of at-risk family members

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,...

GID2 - Overview: Gastrointestinal Dysmotility, Autoimmune/Paraneoplastic Evaluation, Serum

Investigating unexplained weight loss, early satiety, anorexia, nausea, vomiting, constipation, or diarrhea in a patient with a past or family history of cancer or autoimmunity Directing a focused search for cancer Investigating...

PAC1 - Overview: Paraneoplastic, Autoantibody Evaluation, Spinal Fluid

Aiding in the diagnosis of paraneoplastic neurological autoimmune disorders related to carcinoma of lung, breast, ovary, thymoma, or Hodgkin lymphoma using spinal fluid specimens

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

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...

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...

AMMO - Overview: Ammonium, 24 Hour, Urine

Diagnosis of the cause of acidosis Diagnosis and treatment of kidney stones

A2PI - Overview: Alpha-2 Plasmin Inhibitor, Plasma

Diagnosing congenital alpha-2 plasmin inhibitor deficiencies (rare) Providing a complete assessment of disseminated intravascular coagulation, intravascular coagulation and fibrinolysis, or hyperfibrinolysis (primary fibrinolysis), when...

B2MC - Overview: Beta-2-Microglobulin (Beta-2-M), Spinal Fluid

Evaluation of central nervous system inflammation and B-cell proliferative diseases

BHISC - Overview: Bone Histomorphometry, Gross Microscopic Exam

Undetermined metabolic bone disease in wet tissue specimens Renal osteodystrophy Osteomalacia Osteoporosis Paget disease Assessing effects of therapy Identification of some disorders of the hematopoietic system Aluminum...

GAAWR - Overview: Acid Alpha-Glucosidase Reflex, Leukocytes

Diagnosis of Pompe disease as a confirmatory reflex of the 6-enzyme panel

ALPI - Overview: Alkaline Phosphatase Isoenzymes, Serum

Aid in the diagnosis and treatment of liver, bone, intestinal, and parathyroid diseases Determining the tissue source of increased alkaline phosphatase (ALP) activity in serum Differentiating between liver and bone sources of elevated...

AKC - Overview: Adenylate Kinase Enzyme Activity, Blood

Assessment of adenylate kinase activity as part of the evaluation of chronic nonspherocytic hemolytic anemia

AK1 - Overview: Adenylate Kinase Enzyme Activity, Blood

Evaluation of chronic nonspherocytic hemolytic anemia

AREC - Overview: Androgen Receptor Immunostain, Technical Component Only

Identification of tumors that express androgen receptor

BFBL - Overview: Bilirubin, Body Fluid

Evaluating peritoneal fluid or abdominal drain fluid as a screening test for bile leakage May aid in the distinction between a transudative and an exudative pleural effusion

F_11 - Overview: Coagulation Factor XI Activity Assay, Plasma

Diagnosing deficiency of coagulation factor XI Investigating prolonged activated partial thromboplastin time

CTU - Overview: Creatinine, 24 Hour, Urine

Calculation of creatinine clearance, a measure of renal function, when used in conjunction with serum creatinine

CD303 - Overview: CD303 (BDCA-2) Immunostain, Technical Component Only

Diagnosis of blastic plasmacytoid dendritic cell neoplasm

COUO - Overview: Cobalt Occupational Exposure, Random, Urine

Screening for occupational exposure to cobalt

HPYL - Overview: Helicobacter pylori (H pylori) Immunostain, Technical Component Only

Aiding in the identification of Helicobacter pylori infection

HEPBC - Overview: Hepatitis B Core (HBc) Immunostain, Technical Component Only

Aiding in the identification of hepatitis B infection (chronic active state)

HYPOG - Overview: Hypoglycemic Agent Screen, Serum

Evaluation of suspected insulinoma characterized by hypoglycemia and increased serum insulin concentration Detecting drugs that stimulate insulin secretion Drugs detected by this procedure are: -The first-generation sulfonylureas:...

ISLET - Overview: Islet 1 Immunostain, Technical Component Only

Identification of endocrine tumors

JAKXR - Overview: JAK2 Exon 12-15 Sequencing, Polycythemia Vera Reflex, Varies

Aiding in the distinction between the myeloproliferative neoplasm polycythemia vera (PV) and other secondary erythrocytosis Evaluating for mutations within exons 12 to 15 of JAK2 in an algorithmic process as part of PVJAK / Polycythemia...

CD21 - Overview: CD21 Immunostain, Technical Component Only

Identification of follicular dendritic cells and a subset of mantle zone lymphocytes

CD4I - Overview: CD4 Immunostain, Technical Component Only

Identification of T helper cells, histiocytes, and monocytes

CBSRP - Overview: Coxiella burnetii (Q Fever), Molecular Detection, PCR, Serum

Aiding in the diagnosis of Coxiella burnetii infection (ie, Q fever) using serum specimens

CITRA - Overview: Citrate Excretion, Random, Urine

Diagnosing risk factors for patients with calcium kidney stones using random urine specimens Monitoring results of therapy in patients with calcium stones or renal tubular acidosis

CURCU - Overview: Copper/Creatinine Ratio, Random, Urine

Investigation of Wilson disease and obstructive liver disease using a random urine specimen

GALCR - Overview: Galactocerebrosidase Reflex, Leukocytes

Diagnosis of Krabbe disease as a confirmatory reflex of the six-enzyme panel Follow-up testing for evaluation of an abnormal newborn screening result for Krabbe disease This test is not recommended for carrier detection because of the...

1DIS - Overview: Human Leukocyte Antigens (HLA) A-B-C Disease Association Typing Low Resolution, Blood

Determining class I human leukocyte antigens (HLA) on specimens for those patients who have become refractory to platelet transfusions and identify potential disease associations or markers for drug hypersensitivity

GCDF - Overview: GCDFP-15 Immunostain, Technical Component Only

Aiding in the identification of extramammary Paget disease, carcinomas of the salivary glands, sweat glands, and prostate

GALN3 - Overview: Galectin-3 Immunostain, Technical Component Only

Distinguishing normal and benign thyroid gland from thyroid carcinoma

GLUCG - Overview: Glucagon Immunostain, Technical Component Only

Aiding in the study of islet-cell tumors and some endocrine tumors of the gastrointestinal tract

HISER - Overview: Histoplasma Antibody Complement Fixation and Immunodiffusion, Serum

Aiding in the diagnosis of active histoplasmosis

HAEV0 - Overview: Hemolytic Anemia Summary Interpretation

Incorporating and summarizing subsequent results into an overall interpretation for the HAEV1 / Hemolytic Anemia Evaluation, Blood