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Test Catalog

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

MPCDS - Overview: mSMART, Plasma Cell Proliferative Disorder, FISH, Bone Marrow

Aiding in the diagnosis of new cases of multiple myeloma or other plasma cell proliferative disorders as a part of a profile Identifying prognostic markers based on the anomalies found

CARU - Overview: Cyclic Adenosine Monophosphate (cAMP), Urinary Excretion, Serum and Urine

Differential diagnosis of hypercalcemia As an adjunct to serum parathyroid hormone measurements, especially in the diagnosis of parathyroid hormone resistance states, such as pseudohypoparathyroidism

CK - Overview: Creatine Kinase (CK), Serum

Diagnosing and monitoring myopathies or other trauma, toxin, or drug-induced muscle injury

OXYBS - Overview: Oxysterols, Blood Spot

Investigating a possible diagnosis of Niemann-Pick disease types A, B, or C using blood spot specimens Monitoring of individuals with Niemann-Pick disease type C This test is not useful for the identification of carriers.

PNTO - Overview: Streptococcus pneumoniae IgG Antibodies, Total, Serum

Assessing the IgG antibody response to active immunization with nonconjugated 23-valent pneumococcal vaccines Assessing the IgG antibody response to active immunization with conjugated 13-valent, 15-valent and 20-valent pneumococcal...

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

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...

CRTS1 - Overview: Creatinine with Estimated Glomerular Filtration Rate (eGFR), Serum

Diagnosing and monitoring treatment of acute and chronic kidney diseases Adjusting dosage of renally excreted medications Monitoring kidney transplant recipients Estimating glomerular filtration rate for people with chronic kidney...

MCSTP - Overview: MayoComplete Solid Tumor Panel, Next-Generation Sequencing, Tumor

Assisting in tumor profiling for diagnosis, predicting prognosis, and identifying targeted therapies for the treatment and management of patients with solid tumors Identifying somatic alterations including single nucleotide variants, small...

SRYF - Overview: Sex-Determining Region Y, Yp11.3 Deletion, FISH

Detecting the deletion or addition of the SRY gene in conjunction with conventional chromosome studies

LEGRP - Overview: Legionella species, Molecular Detection, PCR, Varies

Sensitive and rapid diagnosis of pneumonia caused by Legionella species The assay is not recommended as a test of cure because bacteria nucleic acids may persist after successful treatment.

NF1Z - Overview: Neurofibromatosis Type 1, NF1, Full Gene Analysis, Varies

Evaluating patients with a personal or family history suggestive of neurofibromatosis type 1 (NF1) Establishing a diagnosis of a NF1 allowing for targeted cancer surveillance based on associated risks Identifying genetic variants...

GPSY - Overview: Glucopsychosine, Blood Spot

Second-tier test when newborn screening results with reduced beta-glucosidase (GBA) activity are identified Diagnosis and monitoring of patients with Gaucher disease using dried blood spot specimens Monitoring a patient's response to...

METAF - Overview: Metanephrines, Fractionated, 24 Hour, Urine

A first- and second-order screening test for the presumptive diagnosis of catecholamine-secreting pheochromocytomas and paragangliomas Confirming positive plasma metanephrine results

ENS2 - Overview: Encephalopathy, Autoimmune/Paraneoplastic Evaluation, Serum

Evaluating, using serum specimens, new onset encephalopathy (noninfectious or metabolic) comprising confusional states, psychosis, delirium, memory loss, hallucinations, movement disorders, sensory or motor complaints, seizures, dyssomnias,...

SMNCS - Overview: Spinal Muscular Atrophy Carrier Screening, Deletion/Duplication Analysis, Varies

General population carrier screening for spinal muscular atrophy (SMA) Carrier screening for reproductive partners of known SMA carriers Carrier screening for parents of a child with a known deletion of the survival motor neuron 1 gene...

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,...

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...

CCMVS - Overview: Congenital Cytomegalovirus (cCMV), Molecular Detection, PCR, Saliva

Aiding in the rapid diagnosis of cytomegalovirus (CMV) infections in neonates 21 days of age or younger using saliva specimens

DIS - Overview: Human Leukocyte Antigens (HLA) Class I and II Disease Association Typing, Low Resolution, Blood

Identifying class I and II human leukocyte antigens (HLA) for potential disease associations or markers for drug hypersensitivity

DHCRZ - Overview: Smith Lemli Opitz Syndrome, DHCR7 Gene, Full Gene Analysis, Varies

Follow up for abnormal biochemical results suggestive of Smith-Lemli-Opitz syndrome Establishing a molecular diagnosis for patients with Smith-Lemli-Opitz syndrome Identifying alterations within DHCR7 allowing for predictive testing of...

SOD1Z - Overview: SOD1 Gene, Full Gene Analysis, Varies

Establishing a molecular diagnosis for patients with amyotrophic lateral sclerosis (ALS) Identifying variants within SOD1 known to be associated with ALS, allowing for predictive testing of at-risk family members

OXNP - Overview: Oxysterols, Plasma

Investigating a possible diagnosis of Niemann-Pick disease types A, B, or C using plasma specimens Monitoring of individuals with Niemann-Pick type C disease This test is not useful for the identification of carriers.

OXYWB - Overview: Oxysterols, Blood

Investigating a possible diagnosis of Niemann-Pick disease type A, B, or C using whole blood specimens Monitoring of individuals with Niemann-Pick type C disease This test is not useful for the identification of carriers.

MLHPB - Overview: MLH1 Hypermethylation Analysis, Blood

As an adjunct to positive hypermethylation in tumor to distinguish between somatic and germline hypermethylation As an adjunct to negative MLH1 germline testing in cases where colon or endometrial tumor demonstrates microsatellite...

PEANT - Overview: Peanut, IgE with Reflex to Peanut Components, IgE, Serum

Evaluating patients with suspected peanut allergy Evaluating patients with possible peanut cross-reactivity

TLTE4 - Overview: Leukotriene E4, 24 Hour, Urine

Aiding in the evaluation of patients at-risk for mast cell activation syndrome (eg, systemic mastocytosis, IgE-mediated allergies, or aspirin-exacerbated respiratory disease) using 24-hour urine collections

PNTOR - Overview: Streptococcus pneumoniae IgG Antibodies, Total, with Reflex, Serum

Assessing the IgG antibody response to active immunization with nonconjugated 23-valent pneumococcal vaccines Assessing the IgG antibody response to active immunization with conjugated 13-valent, 15-valent and 20-valent pneumococcal...

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

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

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

ENC2 - Overview: Encephalopathy, Autoimmune/Paraneoplastic Evaluation, Spinal Fluid

Evaluating new onset encephalopathy (noninfectious or metabolic) comprising confusional states, psychosis, delirium, memory loss, hallucinations, movement disorders, sensory or motor complaints, seizures, dyssomnias, ataxias, nausea,...

CDOMB - Overview: Cadmium for Occupational Monitoring, Blood

Detecting exposure to cadmium, a toxic heavy metal, as a part of occupational monitoring

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

MEVI - Overview: Methemoglobinemia Interpretation

Interpretation of the methemoglobinemia evaluation results Diagnosis of methemoglobinemia and sulfhemoglobinemia and possible hereditary (congenital) causes Differentiation of methemoglobinemia and sulfhemoglobinemia from other causes of...

PETH - Overview: Phosphatidylethanol Confirmation, Blood

Verifying abstinence or use of ethanol, especially in liver transplant candidates/patients

RTQPC - Overview: Abnormal Prion Protein, Real-Time Quaking Induced Conversion, Spinal Fluid

Aiding in diagnosing sporadic Creutzfeldt-Jakob disease or other prion disease in patients with a rapidly progressive dementia

BAMRP - Overview: Bile Acids Malabsorption Panel, Serum and Feces

Aiding in the evaluation of patients suspected of having chronic diarrhea symptoms due to bile acid malabsorption

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