SUAC - Overview: Succinylacetone, Blood Spot

Second-tier newborn screen for tyrosinemia type 1 (HT-1) when primary screen showed nonspecific elevations of tyrosine Diagnosing HT-1 when used in conjunction with testing for urine organic acids, liver function, alpha-fetoprotein, and...

TBSU - Overview: Targeted Benzodiazepine Screen, Random, Urine

Determining compliance or identifying illicit benzodiazepine drug use This test is not intended for employment-related testing.

GUSBB - Overview: Beta-Glucuronidase, Blood Spot

Supporting the biochemical diagnosis of mucopolysaccharidosis VII (MPS VII, Sly syndrome) This test is not useful for determining carrier status for MPS VII.

APGH - Overview: Alpha-Subunit Pituitary Tumor Marker, Serum

Adjunct in the diagnosis of pituitary tumors As part of the follow-up of treated pituitary tumor patients Differential diagnosis of thyrotropin-secreting pituitary tumor versus thyroid hormone resistance Differential diagnosis of...

PD2T - Overview: Pompe Disease Second-Tier Newborn Screening, Blood Spot

Second-tier testing of newborns with an abnormal primary screening result for Pompe disease (decreased acid alpha-glucosidase enzyme activity) Follow-up testing for evaluation of an abnormal newborn screening result for Pompe disease

MAMLF - Overview: MAML2 (11q21) Rearrangement, Mucoepidermoid Carcinoma (MEC), FISH, Tissue

Supporting the diagnosis of mucoepidermoid carcinoma when used in conjunction with an anatomic pathology consultation

ROS1F - Overview: Lung Cancer, ROS1 (6q22) Rearrangement, FISH, Tissue

Fluorescence in situ hybridization (FISH) testing for ROS1 allows for the detection of most ROS1 rearrangements, therefore, is useful for identifying tumors that may be sensitive to directed therapy ROS1 FISH testing may also support the...

2C19R - Overview: Cytochrome P450 2C19 Genotype, Varies

Identifying patients who may be at risk for altered metabolism of drugs that are modified by cytochrome P450 2C19 Predicting anticoagulation response to clopidogrel

COMTQ - Overview: Catechol-O-Methyltransferase (COMT) Genotype, Varies

Prediction of response to nicotine replacement therapy for smoking cessation Investigation of inhibitor dosing for decreasing levodopa metabolism Research use for assessing estrogen metabolism

SQTSG - Overview: Short QT Syndrome Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of short QT syndrome Establishing a diagnosis of short QT syndrome

FAPIX - Overview: Apixaban, Plasma

Apixaban, Plasma

FNEU - Overview: Neurotransmitter Metabolites (5HIAA, HVA, 3OMD) (CSF)

Neurotransmitter Metabolites (5HIAA, HVA, 3OMD) (CSF)

FBIOT - Overview: Vitamin B7, H (Biotin)

Vitamin B7, H (Biotin)

RPDE - Overview: Rapidly Progressive Dementia Evaluation, Spinal Fluid

Evaluation of individuals presenting with rapidly progressive dementia of uncertain disease etiology and a differential diagnosis of Creutzfeldt-Jakob disease and rapidly progressive Alzheimer disease

TPNUQ - Overview: Thiopurine Methyltransferase (TPMT) and Nudix Hydrolase (NUDT15) Genotyping, Varies

Predicting potential for toxicity to thiopurine drugs (6-mercaptopurine, 6-thioguanine, and azathioprine)

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...

FXS - Overview: Fragile X Syndrome, Molecular Analysis, Varies

Confirming a diagnosis of fragile X syndrome, fragile X tremor/ataxia syndrome, or premature ovarian insufficiency caused by expansions in the FMR1 gene Determining carrier status for individuals with a family history of fragile X...

BRGYP - Overview: Hereditary Breast/Gynecologic Cancer Panel, Varies

Evaluating patients with a personal or family history suggestive of a hereditary breast or gynecological cancer syndrome Establishing a diagnosis of a hereditary breast or gynecological cancer syndrome allowing for targeted cancer...

BMFGP - Overview: Inherited Bone Marrow Failure Gene Panel, Varies

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of a hereditary bone marrow failure syndrome Establishing a diagnosis of a hereditary bone marrow failure syndrome associated with known...

ACC - Overview: Adrenal Mass Panel, 24 Hour, Urine

Aiding in assessing malignancy in adrenal masses May aid in improving diagnostic and prognostic prediction and dissect disease mechanisms for the following applications: -Diagnostic assessment and follow up of adrenal cortical...

AMISO - Overview: Amylase, Isoenzymes, Serum

Ruling out salivary amylase as the cause of elevated serum amylase

BILIT - Overview: Bilirubin, Total, Serum

Assessing liver function Evaluating a wide range of diseases affecting the production, uptake, storage, metabolism, or excretion of bilirubin Monitoring the efficacy of neonatal phototherapy

SFIGS - Overview: IgG, Serum

Aiding in the diagnosis of multiple sclerosis and other central nervous system inflammatory conditions as a part of a profile

CLZ - Overview: Clozapine, Serum

Monitoring patient compliance of clozapine treatment An aid to achieving desired serum levels

ROXUR - Overview: Oxalate, Random, Urine

Monitoring therapy for kidney stones using random urine specimens Identifying increased urinary oxalate as a risk factor for stone formation Diagnosis of primary or secondary hyperoxaluria

ETGX - Overview: Ethyl Glucuronide Confirmation, Chain of Custody, Random, Urine

Monitoring abstinence in clinical and justice system settings using ethyl glucuronide and ethyl sulfate as direct biomarkers or metabolites of ethanol This chain-of-custody test is intended to be used in a setting where the test results...

FRT4D - Overview: T4 (Thyroxine), Free, Dialysis, Serum

Determining thyroid status of sick, hospitalized patients Determining thyroid status of patients in whom abnormal binding proteins have been identified Possibly useful in pediatric patients

CHAGL - Overview: Trypanosoma cruzi IgG, Lateral Flow Assay, Serum

Diagnosis of chronic Trypanosoma cruzi infection (Chagas disease)

6MAMX - Overview: 6-Monoacetylmorphine, Chain of Custody, Random, Urine

Determination of heroin use Chain of custody is required whenever the results of testing could be used in a court of law. Its purpose is to protect the rights of the individual contributing the specimen by demonstrating that, it is always...

BAP - Overview: Bone Alkaline Phosphatase, Serum

Diagnosis and assessment of severity of metabolic bone disease including Paget disease, osteomalacia, and other states of high bone turnover Monitoring efficacy of antiresorptive therapies including postmenopausal osteoporosis treatment...

CRY_S - Overview: Cryoglobulin, Serum

Evaluating cryoglobulins in patients with vasculitis, glomerulonephritis, and lymphoproliferative diseases Evaluating cryoglobulins in patients with macroglobulinemia or myeloma in whom symptoms occur with cold exposure This test is not...

AUTOG - Overview: Autoinflammatory Disorders Gene Panel, Varies

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of an inherited autoinflammatory disorder Establishing a diagnosis of a monogenic autoinflammatory disorder, allowing for appropriate...

ADAMP - Overview: ADAMTS13 Activity with Reflex Inhibitor Profile, Plasma

Assisting with the diagnosis of immune or acquired thrombotic thrombocytopenic purpura

CLFA - Overview: Cryptococcus Antigen Screen with Titer, Spinal Fluid

Aiding in the diagnosis of cryptococcosis This test should not be performed as a screening procedure for the general population. This test should not be used as a test of cure or to guide treatment decisions.

GPSYP - Overview: Glucopsychosine, Plasma

Second-tier test when newborn screening results with reduced beta-glucosidase (GBA) activity are identified Diagnosis and monitoring of patients with Gaucher disease using plasma specimens Supporting a biochemical diagnosis of Gaucher...

PSYR - Overview: Psychosine, Whole Blood

Aiding in the biochemical diagnosis of Krabbe disease using whole blood specimens Follow-up of individuals affected with Krabbe disease Follow-up testing after an abnormal newborn screening result for Krabbe disease Monitoring of...

PDGF - Overview: PDGFB (22q13), Dermatofibrosarcoma Protuberans/Giant Cell Fibroblastoma, FISH, Tissue

Confirming the diagnosis of dermatofibrosarcoma protuberans (DFSP)/giant cell fibroblastoma (GCF) and excluding other spindle neoplasms that closely simulate the DFSP histology, including dermatofibroma (benign fibrous histiocytoma),...

CALR - Overview: CALR Mutation Analysis, Myeloproliferative Neoplasm (MPN), Varies

Rapid and sensitive detection of insertion and deletion-type mutations in exon 9 of CALR Aiding in distinguishing between reactive thrombocytosis and leukocytosis versus a myeloproliferative neoplasm (MPN), especially essential...

CMA - Overview: Centromere Antibodies, IgG, Serum

Evaluating patients with features of systemic autoimmune rheumatic disease, particularly systemic sclerosis, Sjogren's syndrome, or overlap disease Aiding in the phenotypic stratification of patients with systemic sclerosis (limited...

SGTF - Overview: MYB (6q23) Rearrangement FISH, Tissue

Assessing for MYB gene rearrangements in patients with primary salivary gland carcinoma to aid in confirming or excluding the diagnosis of primary salivary gland adenoid cystic carcinomas

USPF - Overview: USP6 (17p13), Aneurysmal Bone Cyst and Nodular Fasciitis, FISH, Tissue

Supporting the diagnosis of aneurysmal bone cyst or nodular fasciitis

STSH - Overview: Thyroid-Stimulating Hormone-Sensitive (s-TSH), Serum

Screening for thyroid dysfunction and detecting mild (subclinical), as well as overt, primary hypo- or hyperthyroidism in ambulatory patients Monitoring patients on thyroid replacement therapy Confirmation of thyrotropin (TSH, formerly...

IL28Q - Overview: Interleukin 28B (IL28B) Variant (rs12979860), Varies

Predicting responsiveness of genotype 1 hepatitis C viral infections to combined pegylated-interferon and ribavirin-based therapies

CJDE - Overview: Creutzfeldt-Jakob Disease Evaluation, Spinal Fluid

Assessment of Creutzfeldt-Jakob disease or other human prion disease in patients with rapidly progressive dementia

PSY - Overview: Psychosine, Blood Spot

Aids in the biochemical detection of Krabbe disease and saposin A cofactor deficiency Second-tier testing or follow up testing after an abnormal newborn screening result in an infant for Krabbe disease This test is not capable of...

RBCME - Overview: Red Blood Cell Membrane Evaluation, Blood

Investigation of suspected red cell membrane disorders, such as hereditary spherocytosis or hereditary pyropoikilocytosis This test is not useful for hereditary elliptocytosis.

DENVP - Overview: Dengue Virus Antibody/Antigen Panel, Serum

Aiding in the diagnosis of dengue virus infection by detection of IgM and IgG antibodies and the nonstructural protein 1 (NS1)

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

SESPF - Overview: Sesame Seed, IgE, with Reflex to Sesame Seed Component, IgE, Serum

Evaluating patients with suspected sesame seed allergy

AHUSD - Overview: Atypical Hemolytic Uremic Syndrome Complement Panel, Serum and Plasma

Detecting deficiencies in the alternative pathway that can cause atypical-hemolytic uremic syndrome, dense deposit disease, and C3 glomerulonephritis A second-tier test that aids in the differential diagnosis of thrombotic...