HEXBZ - Overview: Sandhoff Disease, HEXB Gene, Full Gene Analysis, Varies

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

CYSGP - Overview: Cystinuria Gene Panel, Varies

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

WARSQ - Overview: Warfarin Response Genotype, Varies

Identifying patients who may require warfarin dosing adjustments(3,4) including: -Patients being started on a first prescription for warfarin -Patients who have previously been prescribed warfarin and have required multiple dosing...

ALS - Overview: Aldolase, Serum

Detection of muscle disease

CEASF - Overview: Carcinoembryonic Antigen (CEA), Spinal Fluid

Detecting meningeal carcinomatosis and intradural or extradural infiltration Differentiating brain parenchymal metastasis from adenocarcinoma or squamous-cell carcinoma

MAS1 - Overview: Myelopathy, Autoimmune/Paraneoplastic Evaluation, Serum

Evaluating patients with suspected autoimmune myelopathy, myelitis, and paraneoplastic myelopathy using serum specimens

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)...

ALAD - Overview: Aminolevulinic Acid Dehydratase, Whole Blood

Preferred confirmation test for the diagnosis of aminolevulinic acid dehydratase deficiency porphyria This test is not useful for detecting lead intoxication.

ALUCR - Overview: Aluminum/Creatinine Ratio, Random, Urine

Monitoring aluminum exposure when a 24-hour urine cannot be collected Monitoring metallic prosthetic implant wear when a 24-hour urine cannot be collected This test is not an acceptable substitute for serum aluminum measurements and is...

APIXA - Overview: Apixaban, Anti-Xa, Plasma

Measuring apixaban concentration in selected clinical situations (eg, renal insufficiency, assessment of compliance, periprocedural measurement of drug concentration, suspected overdose, advanced age, and extremes of body weight)

SPASU - Overview: Arsenic Speciation, 24 Hour, Urine

Diagnosing arsenic intoxication using 24-hour urine specimens

AN3TC - Overview: Antineuronal Nuclear Antibody Type 3 (ANNA-3) Titer, Spinal Fluid

Evaluating patients who present with a subacute neurological disorder of undetermined etiology and have risk factors for primary lung carcinoma Reporting an end titer result from cerebrospinal fluid specimens

AMPHX - Overview: Amphetamines Confirmation, Chain of Custody, Random, Urine

Confirming drug exposure involving amphetamines such as amphetamine and methamphetamine, phentermine, pseudoephedrine/ephedrine, methylenedioxymethamphetamine, and methylenedioxyamphetamine. Providing chain-of-custody for when the results...

ALDS - Overview: Aldosterone, Serum

Investigating primary aldosteronism (eg, adrenal adenoma/carcinoma and adrenal cortical hyperplasia) and secondary aldosteronism (renovascular disease, salt depletion, potassium loading, cardiac failure with ascites, pregnancy, Bartter...

CD40 - Overview: B-Cell CD40 Expression by Flow Cytometry, Blood

Evaluating patients for hyper-IgM type 3 (HIGM3) syndrome due to defects in CD40, typically seen in patients less than 10 years Assessing B-cell immune competence in other clinical contexts, including autoimmunity, malignancy, and...

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...

F8A - Overview: Coagulation Factor VIII Activity Assay, Plasma

Diagnosing hemophilia A Diagnosing von Willebrand disease when measured with the von Willebrand factor (VWF) antigen and VWF activity Diagnosing acquired deficiency states Investigation of prolonged activated partial thromboplastin...

SCCTV - Overview: Chlamydia trachomatis, Self-Collect, Amplified RNA, Vaginal

Detecting Chlamydia trachomatis using vaginal swabs collected by the patient in a healthcare setting This test is not intended for use in medico-legal applications. This test is not useful for the detection of other Chlamydia species.

CMVM - Overview: Cytomegalovirus (CMV) Antibodies, IgM, Serum

Aiding in the diagnosis of acute infection with cytomegalovirus This test should not be used for screening blood or plasma donors.

CVRNA - Overview: Candida Vaginitis, Nucleic Acid Amplification RNA, Vaginal

Aiding in the diagnosis of Candida vaginitis This test is not intended for use in medico-legal applications.

GDU - Overview: Gadolinium, 24 Hour, Urine

Assessing chronic exposure and monitoring effectiveness of dialysis in a 24-hour urine collection

LGBBS - Overview: Globotriaosylsphingosine, Blood Spot

Screening of patients with Fabry disease using dried blood spots when a serum specimen is not available This test should not be used for newborn screening followup.

KI67B - Overview: Ki-67(MIB-1), Breast, Quantitative Immunohistochemistry, Automated

Determining proliferation of tumor cells in paraffin-embedded tissue blocks from patients diagnosed with breast carcinoma

SCGCT - Overview: Neisseria gonorrhoeae, Self-Collect, Nucleic Acid Amplification, Throat

Detecting Neisseria gonorrhoeae using throat swabs collected by the patient in a healthcare setting This test is not intended for use in medico-legal applications.

NIS - Overview: Nickel, Serum

Confirmation of an elevated urinary nickel concentration This test is not useful for the investigation of nickel hypersensitivity.

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...

OPATU - Overview: Opiates Confirmation, Random, Urine

Detection and quantification of codeine, hydrocodone, oxycodone, morphine, hydromorphone, oxymorphone, noroxycodone, noroxymorphone, norhydrocodone, dihydrocodeine, and naloxone in urine

PKU - Overview: Phenylalanine and Tyrosine, Plasma

Monitoring effectiveness of dietary therapy in patients with hyperphenylalaninemia

MTRNA - Overview: Trichomonas vaginalis, Nucleic Acid Amplification, Varies

Detecting Trichomonas vaginalis in prostatic massage (VBIII) fluid or male urethral swabs

YMCRO - Overview: Y Chromosome Microdeletions, Molecular Detection, Varies

Evaluating men with azoospermia, severe oligozoospermia, or otherwise unexplained male factor infertility

VRERP - Overview: Vancomycin-Resistant Enterococcus, Molecular Detection, PCR, Varies

Identifying carriers of vancomycin-resistant enterococci

VMAR - Overview: Vanillylmandelic Acid, Random, Urine

Screening children for catecholamine-secreting tumors using a random urine collection when requesting vanillylmandelic acid only Supporting a diagnosis of neuroblastoma Monitoring patients with a treated neuroblastoma

TIUCR - Overview: Titanium/Creatinine Ratio, Random, Urine

Monitoring exposure and elimination of titanium

B6PRO - Overview: Vitamin B6 Profile (Pyridoxal 5-Phosphate and Pyridoxic Acid), Plasma

Determining vitamin B6 status, including in persons who present with progressive nerve compression disorders, such as carpal tunnel and tarsal tunnel syndromes Determining the overall success of a vitamin B6 supplementation program...

SIL2R - Overview: Interleukin-2 Receptor Alpha Soluble, Plasma

Measuring the concentration of soluble interleukin-2 receptor alpha (sIL-2r alpha) in plasma Aids in the diagnosis and evaluation of patients for lymphoproliferative disorders, including autoimmune lymphoproliferative syndrome,...

PCTTC - Overview: Purkinje Cell Cytoplasmic Antibody, Type Tr (PCA-Tr) Titer, Spinal Fluid

Serological testing for Purkinje cell cytoplasmic antibody-Tr for patients with acquired cerebellar ataxia of undetermined etiology, particularly if the patient has a history of Hodgkin lymphoma Reporting an end titer result from spinal...

TIWB - Overview: Titanium, Blood

Detecting and monitoring titanium exposure and potential implant status in patients with orthopedic implants

SCGCR - Overview: Neisseria gonorrhoeae, Self-Collect, Nucleic Acid Amplification, Rectal

Detecting Neisseria gonorrhoeae using rectal swabs collected by the patient in a healthcare setting This test is not intended for use in medico-legal applications.

OXU - Overview: Oxalate, 24 Hour, Urine

Monitoring therapy for kidney stones using 24-hour urine collections Identifying increased urinary oxalate as a risk factor for stone formation Diagnosis of primary or secondary hyperoxaluria

COKMX - Overview: Cocaine and Metabolite Confirmation, Chain of Custody, Meconium

Detecting in utero drug exposure up to 5 months before birth 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...

FOL - Overview: Folate, Serum

Investigation of suspected folate deficiency

NAIFA - Overview: Antinuclear Antibodies, HEp-2 Substrate, IgG, Serum

Evaluation of patients suspected of having systemic autoimmune rheumatic disease (ANA-associated rheumatic diseases or connective tissue disease) or organ-specific autoimmune diseases such as autoimmune liver diseases

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...

AGU20 - Overview: Acylglycines, Quantitative, Random, Urine

Diagnosis and monitoring for patients affected with one of the following inborn errors of metabolism: Fatty Acid Oxidation Disorders: -Glutaric acidemia type II -Medium-chain 3-ketoacyl-coenzyme A (CoA) thiolase (MCKAT)...

BNZX - Overview: Benzodiazepines Confirmation, Chain of Custody, Random, Urine

Detecting drug use involving benzodiazepines such as alprazolam, chlordiazepoxide, clonazepam, diazepam, midazolam, oxazepam, temazepam, clobazam, flunitrazepam, flurazepam, lorazepam, prazepam, triazolam, and zolpidem, in urine specimens...

SCCGR - Overview: Chlamydia trachomatis and Neisseria gonorrhoeae, Self-Collect, Amplified RNA, Rectal

Detecting Chlamydia trachomatis and Neisseria gonorrhoeae using rectal swabs collected by the patient in a healthcare setting This test is not intended for use in medico-legal applications. This test is not useful for the detection of...

SCCGT - Overview: Chlamydia trachomatis and Neisseria gonorrhoeae, Self-Collect, Amplified RNA, Throat

Detecting Chlamydia trachomatis and Neisseria gonorrhoeae using a throat swab collected by the patient in a healthcare setting This test is not intended for use in medico-legal applications. This test is not useful for the detection of...

CHIKV - Overview: Chikungunya IgM and IgG, Antibody, Serum

Aiding in the diagnosis of recent infection with Chikungunya virus in patients with recent travel to endemic areas and a compatible clinical syndrome

DENGM - Overview: Dengue Virus Antibody, IgG and IgM, Serum

Aiding in the diagnosis of dengue virus infection

8INHE - Overview: Factor VIII Inhibitor Evaluation, Plasma

Detecting the presence and titer of a specific factor inhibitor directed against coagulation factor VIII This test is not useful for the detection of a lupus-like circulating anticoagulant inhibitor, a nonspecific circulating...