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

Evaluating patients with a suspected immune-mediated demyelinating peripheral neuropathy

TCP - Overview: T-Cell Subsets, Naive, Memory, and Activated, Blood

Determining the presence of naive, memory, and activated T cells in various clinical contexts including autoimmune diseases, immunodeficiency states, T-cell recovery post-hematopoietic stem cell transplant, DiGeorge syndrome, and as a...

SUPRA - Overview: Supersaturation Profile, Random, 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 which may help in designing a treatment...

CDGF - Overview: Celiac Disease Gluten-Free Cascade, Serum and Whole Blood

Evaluating patients suspected of having celiac disease who are currently (or were recently) on a gluten-free diet

HMDB - Overview: Heavy Metals Screen with Demographics, Blood

Detecting exposure to arsenic, lead, cadmium, and mercury

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...

GNADM - Overview: Hereditary Thrombotic Thrombocytopenic Purpura, ADAMTS13 Gene, Next-Generation Sequencing, Varies

Evaluating hereditary thrombotic thrombocytopenic purpura (TTP) in patients with a personal or family history suggestive of thrombotic microangiopathy Confirming a hereditary TTP diagnosis with the identification of known or suspected...

GALZ - Overview: Galactosemia, GALT Gene, Full Gene Analysis, Varies

Identifying variants in individuals who test negative for the common variants and who have a biochemical diagnosis of galactosemia or galactose-1-phosphate uridyltransferase activity levels indicative of carrier status

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...

LUCHM - Overview: LiquidHALLMARK ctDNA and ctRNA

As an alternative to invasive tissue biopsies to assist in tumor profiling for diagnosis, predicting prognosis, and identifying targeted therapies for the treatment and management of patients with a solid tumor This test is not useful for...

QNKS - Overview: Natural Killer (NK)/Natural Killer T-Cell Subsets, Quantitative, Blood

Quantitation of the major natural killer (NK)-cell subsets relative to total NK cells (NK cell subsets) or total lymphocytes (NK T cells) Assessment in the following clinical contexts: HIV, primary immune deficiencies with NK cell...

DHR - Overview: Dihydrorhodamine Flow Cytometric Test, Blood

Evaluation of chronic granulomatous disease (CGD), X-linked and autosomal recessive forms, Rac2 deficiency, complete myeloperoxidase deficiency Monitoring chimerism and nicotinamide adenine dinucleotide phosphate oxidase (NOX) function...

MITOP - Overview: Mitochondrial Full Genome Analysis, Next-Generation Sequencing (NGS), Varies

Diagnosis of the subset of mitochondrial diseases that results from variants in the mitochondrial genome A second-tier test for patients in whom previous targeted gene variant analyses for specific mitochondrial disease-related genes were...

CFTRN - Overview: Cystic Fibrosis Transmembrane Conductance Regulator, CFTR, Full Gene Analysis, Varies

Follow-up testing to identify variants in individuals with a clinical diagnosis of cystic fibrosis (CF) Identifying genetic variants in individuals with atypical presentations of CF (eg, congenital bilateral absence of the vas deferens or...

PSYQP - Overview: Psychotropic Pharmacogenomics Gene Panel, Varies

Individualizing selection and dosage of medications prescribed for treatment of depression and other psychiatric disorders based on genetic variation Identifying genetic variation in genes known to be associated with response and/or risk...

LIPOG - Overview: Lipodystrophy Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of a hereditary lipodystrophy Establishing a diagnosis of a hereditary lipodystrophy

MEV1 - Overview: Methemoglobinemia Evaluation, Blood

Diagnosis of methemoglobinemia and sulfhemoglobinemia and possible hereditary (congenital) causes Differentiation of methemoglobinemia and sulfhemoglobinemia from other causes of cyanosis (eg, congenital heart disease)

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...

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

PRKSG - Overview: PRKAR1A Full Gene Sequencing with Deletion/Duplication, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of Carney Complex (CNC) or acrodysostosis-1 with hormone resistance Establishing a diagnosis of CNC or acrodysostosis-1 with hormone resistance

SUP24 - Overview: Supersaturation Profile, 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...

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...

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...

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

CDSP - Overview: Celiac Disease Serology Cascade, Serum

Evaluating patients suspected of having celiac disease, including patients with compatible symptoms, patients with atypical symptoms, and individuals at increased risk (family history, previous diagnosis with associated disease, positivity...

ESTF - Overview: Estrogens, Estrone (E1) and Estradiol (E2), Fractionated, Serum

Simultaneous high-sensitivity determination of serum estrone and estradiol levels Situations requiring either higher sensitivity estradiol measurement, estrone measurement, or both, including -As part of the diagnosis and workup of...

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...

PAVAL - Overview: Paraneoplastic, Autoantibody Evaluation, Serum

Serological evaluation of patients who present with a subacute neurological disorder of undetermined etiology, especially those with known risk factors for cancer Directing a focused search for cancer Investigating neurological symptoms...

PCDES - Overview: Pediatric Autoimmune Encephalopathy/CNS Disorder Evaluation, Serum

Evaluating children with autoimmune central nervous system disorders using serum specimens

PCDEC - Overview: Pediatric Autoimmune Encephalopathy/CNS Disorder Evaluation, Spinal Fluid

Evaluating children with autoimmune central nervous system disorders using spinal fluid specimens

NHEP - Overview: Hereditary Erythrocytosis Gene Panel, Next-Generation Sequencing, Varies

Evaluating an individual with JAK2-V617F negative erythrocytosis associated with lifelong sustained increased red blood cell (RBC) mass, elevated RBC count, hemoglobin, or hematocrit Providing an extensive genetic evaluation for patients...

FAPCP - Overview: Fatty Acid Profile, Comprehensive (C8-C26), Serum

Monitoring patients undergoing diet therapy for mitochondrial or peroxisomal disorders (possibly inducing essential fatty acid deficiency in response to restricted fat intake) using serum specimens Monitoring treatment of essential fatty...

CDCOM - Overview: Celiac Disease Comprehensive Cascade, Serum and Whole Blood

Evaluating patients suspected of having celiac disease, including patients with compatible symptoms, patients with atypical symptoms, and individuals at increased risk (family history, previous diagnosis with associated...

WESR - Overview: Whole Exome Sequencing Reanalysis, Varies

Identifying a diagnosis or additional variants associated with the phenotype in patients who previously have had a negative or inconclusive whole exome sequencing test Reanalyzing whole exome sequencing data when a patient (proband)...

GNHMA - Overview: Hemophilia A, F8 Gene, Next-Generation Sequencing, Varies

Confirming a clinical diagnosis of hemophilia A in affected male patients with the identification of a disease-causing variant in the F8 gene Determining the disease-causing alteration within the F8 gene to delineate the underlying...

PNEFS - Overview: Neuroimmunology Antibody Follow-up, Serum

Monitoring patients who have previously tested positive for one or more antibodies within the past 5 years in a Mayo Neuroimmunology Laboratory serum evaluation

TRCHG - Overview: ToRCH Profile IgG, Serum

Determining immune status of individuals to the rubella virus following vaccination or prior exposure Indicating past or recent infection with Toxoplasma gondii, cytomegalovirus, or herpes simplex virus (HSV) Distinguishing between...

CBC - Overview: Complete Blood Cell Count (CBC) with Differential, Blood

Screening tool to confirm a hematologic disorder, to establish or rule out a diagnosis, to detect an unsuspected hematologic disorder, or to monitor effects of radiation or chemotherapy

WGSR - Overview: Whole Genome Sequencing Reanalysis, Varies

Identifying a diagnosis or additional variants associated with the phenotype in patients who previously have had a negative or inconclusive whole genome sequencing test Reanalyzing whole genome sequencing data when a patient (proband)...

AIAES - Overview: Axonal Neuropathy, Autoimmune/Paraneoplastic Evaluation, Serum

Evaluation of patients who present with a subacute neurological disorder of undetermined etiology, especially those with known risk factors for cancer Directing a focused search for cancer Investigating neurological symptoms that appear...

CMITO - Overview: Combined Mitochondrial Full Genome and Nuclear Gene Panel, Varies

Diagnosing mitochondrial disease that results from variants in either nuclear-encoded genes or the mitochondrial genome A second-tier test for patients in whom previous targeted gene variant analyses for specific mitochondrial...

SCIDP - Overview: Severe Combined Immunodeficiency (SCID) Gene Panel, Varies

Establishing a diagnosis of a severe combined immunodeficiency (SCID) associated with known causal genes Identifying variants within genes known to be associated with SCID, allowing for predictive testing of at-risk family members and/or...

HCHLG - Overview: Hypercholesterolemia Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of familial hypercholesterolemia (FH), sitosterolemia, or other monogenic forms of inherited hypercholesterolemia Establishing a diagnosis of FH,...

WESPR - Overview: Panel to Whole Exome Sequencing Reflex Test, Varies

Serving as a second-tier test for patients in whom previous genetic testing was negative or inconclusive Identifying causative variants in genes that were not included on panel testing which can allow for: -Better understanding of the...

EPC2 - Overview: Epilepsy, Autoimmune/Paraneoplastic Evaluation, Spinal Fluid

Investigating new onset cryptogenic epilepsy with incomplete seizure control and duration of fewer than 2 years using spinal fluid specimens Investigating new onset cryptogenic epilepsy plus 1 or more of the following...

DMS2 - Overview: Dementia, Autoimmune/Paraneoplastic Evaluation, Serum

Investigating new onset dementia and cognitive impairment plus 1 or more of the following using serum specimens: -Rapid onset and progression -Fluctuating course -Psychiatric accompaniments (psychosis, hallucinations) -Movement disorder...

DMC2 - Overview: Dementia, Autoimmune/Paraneoplastic Evaluation, Spinal Fluid

Investigating new onset dementia and cognitive impairment plus 1 or more of the following accompaniments using cerebrospinal fluid specimens: -Rapid onset and progression -Fluctuating course -Psychiatric accompaniments (psychosis,...