CDKZ - Overview: CDKN1C Gene, Full Gene Analysis, Varies

Confirming a clinical diagnosis of Beckwith-Wiedemann syndrome following a normal result on methylation analysis Confirming a clinical diagnosis of IMAGe (intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia...

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...

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

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...

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...

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...

AFTDP - Overview: Inherited Frontotemporal Dementia and Amyotrophic Lateral Sclerosis Gene Panel, Varies

Establishing a molecular diagnosis for patients with frontotemporal dementia (FTD) and/or amyotrophic lateral sclerosis (ALS) Identifying variants within genes known to be associated with FTD and/or ALS, allowing for predictive testing of...

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 Clinic Laboratories serum evaluation

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...

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

CSMPU - Overview: Controlled Substance Monitoring Panel, Random, Urine

Detecting drug use involving stimulants, barbiturates, benzodiazepines, cocaine, opioids, and tetrahydrocannabinol This test is not intended for use in employment-related testing.

CSMHU - Overview: Controlled Substance Monitoring Hybrid Drug Profile, 20 Drug Classes, High-Resolution Mass Spectrometry and Immunoassay Screen, Random, Urine

Detecting drug use involving stimulants, barbiturate, benzodiazepines, cocaine, opioids, and tetrahydrocannabinol This test is not intended for use in employment-related testing.

LDALD - Overview: Lysosomal and Peroxisomal Disorders Newborn Screen, Blood Spot

First-tier newborn screen for the lysosomal disorders: Fabry, Gaucher, Krabbe, mucopolysaccharidosis I (MPS I) and II (MPS II), infantile neurovisceral or chronic visceral acid sphingomyelinase deficiency, and Pompe (glycogen storage...

CSMEU - Overview: Controlled Substance Monitoring Enhanced Profile with Reflex, 21 Drug Classes, High Resolution Mass Spectrometry and Immunoassay Screen, Random, Urine

Detecting drug use involving stimulants, barbiturate, benzodiazepines, cocaine, opioids, tetrahydrocannabinol, and alcohol This test is not intended for use in employment-related testing.

HHTGG - Overview: Hereditary Hemorrhagic Telangiectasia and Vascular Malformations Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of hereditary hemorrhagic telangiectasia (HHT), cerebral cavernous malformation (CCM), capillary malformation-arteriovenous malformation syndrome...

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,...

PHCGD - Overview: Phagocytic Disorders and Chronic Granulomatous Disease Gene Panel, Varies

Providing a comprehensive genetic evaluation for patients with a personal or family history of chronic granulomatous disease, Papillon-Lefevre syndrome, specific granule deficiency, leukocyte adhesion deficiency, or other phagocytic...

ADMPU - Overview: Addiction Medicine Profile with Reflex, 22 Drug Classes, High Resolution Mass Spectrometry and Immunoassay Screen, Random, Urine

Detecting drug use involving stimulants, barbiturate, benzodiazepines, cocaine, opioids, tetrahydrocannabinol, alcohol, and nicotine This test is not intended for use in employment-related testing.

BCELL - Overview: B-Cell and Antibody Deficiency Gene Panel, Varies

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of an inherited primary B-cell disorder or humoral immunodeficiency Establishing a diagnosis of a primary B-cell disorder or humoral...

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...

COMID - Overview: Combined Humoral and Cell-Mediated Immunodeficiency Gene Panel, Varies

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of a hereditary combined humoral and cell-mediated immunodeficiency (CID) Establishing a diagnosis of a combined immunodeficiency...

MDC2 - Overview: Movement Disorder, Autoimmune/Paraneoplastic Evaluation, Spinal Fluid

Evaluating patients with suspected paraneoplastic or other autoimmune movement disorders including patients with ataxia, brainstem encephalitis, chorea, dyskinesias, myoclonus, and parkinsonism using spinal fluid specimens

EPS2 - Overview: Epilepsy, Autoimmune/Paraneoplastic Evaluation, Serum

Investigating new onset cryptogenic epilepsy with incomplete seizure control and duration of less than 2 years, using serum specimens Investigating new onset cryptogenic epilepsy plus 1 or more of the following accompaniments: -Psychiatric...