C9ORF - Overview: C9orf72 Hexanucleotide Repeat, Molecular Analysis, Varies

Molecular confirmation of clinically suspected cases of c9FTD/ALS, frontotemporal dementia (FTD), or amyotrophic lateral sclerosis (ALS) Presymptomatic testing for individuals with a family history of c9FTD/ALS and a documented expansion...

ACASM - Overview: Pernicious Anemia Cascade, Serum

Diagnosis of pernicious anemia Diagnosis of vitamin B12 deficiency-associated neuropathy

STER - Overview: Sterols, Plasma

Investigation of possible desmosterolosis (desmosterol reductase deficiency), cerebrotendinous xanthomatosis, lathosterolosis, sitosterolemia, sterol C4 methyl oxidase deficiency, MEND (male EBP disorder with neurologic defects) syndrome,...

RLTE4 - Overview: Leukotriene E4, Random, 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 random urine collections

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...

GNHMB - Overview: Hemophilia B, F9 Gene, Next-Generation Sequencing, Varies

Confirming a clinical diagnosis of hemophilia B in affected male patients with the identification of a disease-causing variant in the F9 gene Determining the disease-causing alteration within the F9 gene to delineate the underlying...

AECDP - Overview: Angioedema and Complement Disorders Gene Panel, Varies

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of an inherited complement disorder, including complement deficiency Providing a comprehensive genetic evaluation for patients with a...

COGTF - Overview: T-Cell Acute Lymphoblastic Leukemia/Lymphoma (ALL), Children's Oncology Group Enrollment Testing, FISH, Varies

Evaluation of pediatric bone marrow and peripheral blood specimens by fluorescence in situ hybridization probe analysis for classic rearrangements and chromosomal copy number changes associated with T-cell acute lymphoblastic leukemia in...

ARSBB - Overview: Arylsulfatase B, Blood Spot

Supporting the biochemical diagnosis of mucopolysaccharidosis type VI (MPS VI, Maroteaux-Lamy syndrome) This test is not useful for carrier detection for MPS VI

HBAB - Overview: Hepatitis B Virus Surface Antibody, Qualitative/Quantitative, Serum

Identifying previous exposure to hepatitis B virus Determining adequate immunity from hepatitis B vaccination

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...

HBBSN - Overview: Hepatitis B Virus Surface Antibody Screen, Qualitative/Quantitative, Serum

Identifying previous exposure to hepatitis B virus

MDSMF - Overview: Myelodysplastic Syndrome (MDS), Specified FISH, Varies

Detecting a neoplastic clone associated with the common chromosome abnormalities seen in patients with myelodysplastic syndromes or other myeloid malignancies using client specified probes Evaluating specimens in which standard...

THSCM - Overview: Thyroid Function Cascade, Serum

Screening for a diagnosis of thyroid disease

TLPMF - Overview: T-Cell Lymphoma, Specified FISH, Varies

Detecting, at diagnosis, common chromosome abnormalities associated with specific T-cell lymphoma subtypes using client specified probes

BUPR - Overview: Buprenorphine Screen with Reflex, Random, Urine

Screening and confirmation for drug abuse or use of buprenorphine

ALLOI - Overview: Allo-isoleucine, Blood Spot

Evaluation of newborn screening specimens that test positive for branched-chain amino acids elevations Follow-up of patients with maple syrup urine disease

DASM4 - Overview: Drugs of Abuse Screen, Meconium 4

Identifying amphetamines (and methamphetamines), opiates, as well as metabolites of cocaine and marijuana in meconium specimens

THCCR - Overview: Delta 9-Carboxy-Tetrahydrocannabinol (THC-COOH) Confirmation and Creatinine Ratio, Random, Urine

Measuring the delta-9 carboxy-tetrahydrocannabinol to creatinine ratio to detect use of tetrahydrocannabinol

DASM5 - Overview: Drugs of Abuse Screen, Meconium 5

Identifying amphetamines (and methamphetamines), opiates, phencyclidine, as well as metabolites of cocaine and marijuana in meconium specimens

MMGEN - Overview: Mycoplasma genitalium, Transcription-Mediated Amplification, Post-Prostatic Massage Fluid/Urine or Peritoneal Fluids

Detecting Mycoplasma genitalium in cases of suspected infection in peritoneal fluid or prostatic secretion (VBIII) fluid/urine This test is not intended for use in medico-legal applications.

OAU - Overview: Organic Acids Screen, Random, Urine

Diagnosis of inborn errors of metabolism

T821Q - Overview: RUNX1-RUNX1T1 Translocation (8;21), Minimal Residual Disease Monitoring, Quantitative, Varies

Detection of RUNX1-RUNX1T1 gene fusion in acute myeloid leukemia patients at the time of diagnosis Minimal residual disease monitoring during the clinical and therapeutic course of these patients

PKUBS - Overview: Phenylalanine and Tyrosine, Blood Spot

Monitoring effectiveness of therapy in patients with hyperphenylalaninemia This test is not sufficient for follow-up for abnormal newborn screening results or for establishing a diagnosis of a specific cause of hyperphenylalaninemia

MAMMX - Overview: 6-Monoacetylmorphine (6-MAM) Confirmation, Chain of Custody, Meconium

Detecting in utero heroin 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...

AMLAF - Overview: Acute Myeloid Leukemia (AML), FISH, Adult, Varies

This test should not be used to screen for residual acute myeloid leukemia (AML). Useful at diagnosis for detecting recurrent common chromosome abnormalities in adult patients with AML An adjunct to chromosome studies in patients with...

GNBLC - Overview: Bleeding Disorders, Comprehensive Gene Panel, Next-Generation Sequencing, Varies

Evaluating hereditary bleeding in patients with a personal or family history suggestive of a hereditary bleeding disorder Confirming a hereditary bleeding disorder diagnosis with the identification of a known or suspected disease-causing...

BHYD - Overview: Beta-Hydroxybutyrate, Serum

Monitoring therapy for diabetic ketoacidosis Investigating the differential diagnosis of any patient presenting to the emergency room with hypoglycemia, acidosis, suspected alcohol ingestion, or an unexplained increase in the anion gap...

BIWB - Overview: Bismuth, Blood

Determining bismuth toxicity

DESPR - Overview: Desipramine, Serum

Monitoring serum concentration of desipramine during therapy Evaluating potential desipramine toxicity May aid in evaluating patient compliance

ITCON - Overview: Itraconazole, Serum

Verifying systemic absorption of orally administered itraconazole Patients with life-threatening fungal infections Patients considered at risk for poor absorption or rapid clearance of itraconazole

LID - Overview: Lidocaine, Serum

Assessing optimal lidocaine dosing during the acute management of ventricular arrhythmias following myocardial infarction or during cardiac manipulation such as surgery Assessing potential lidocaine toxicity

LACO - Overview: Lacosamide, Serum

Monitoring serum concentrations of lacosamide to ensure compliance and appropriate dosing in specific clinical conditions (ie, severe kidney impairment, mild-to-moderate hepatic impairment, and kidney failure)

RCVBS - Overview: Recoverin-IgG Antibody, Immunoblot, Serum

Evaluating patients with suspected paraneoplastic retinopathy accompanying small cell carcinoma

POSV - Overview: Post Vasectomy Check, Semen

Determining absence or presence of sperm postvasectomy

TAKRO - Overview: Tacrolimus, Blood

Monitoring whole blood tacrolimus concentration during therapy, particularly in individuals coadministered cytochrome P450 (CYP) 3A4 substrates, inhibitors, or inducers Adjusting dose to optimize immunosuppression while minimizing...

FSUAB - Overview: Sulfatide Autoantibody Test

Sulfatide Autoantibody Test

FADBC - Overview: Adenosine Deaminase, RBC

Adenosine Deaminase, RBC

FUNBW - Overview: Fungitell, bronch wash

Fungitell, bronch wash

FUNBL - Overview: Fungitell, BAL

Fungitell, BAL

FSLAA - Overview: Soluble Liver Antigen (SLA) Autoantibody

Soluble Liver Antigen (SLA) Autoantibody

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...

CHSBP - Overview: Chronic Hepatitis B Monitoring Profile, Serum

Evaluating and monitoring individuals with known chronic hepatitis B Monitoring hepatitis B viral infectivity after resolution of acute hepatitis B

CHBVS - Overview: Chronic Hepatitis B Screen, Serum

Diagnosis and evaluation of patients at risk for or suspected of having chronic hepatitis B This test is not offered as a screening or confirmatory test for blood donor specimens. This test is not useful during the "window period" of...

C2NAD - Overview: PrecivityAD, Plasma

Assisting in the evaluation of adult patients, aged 55 years and older, with signs or symptoms of mild cognitive impairment or dementia who are being assessed for Alzheimer disease and other causes of cognitive decline This is not intended...

SARCP - Overview: Sarcoma Targeted Gene Fusion/Rearrangement Panel, Next-Generation Sequencing, Tumor

Diagnosing specific soft tissue and bone tumors (sarcoma) based on the observed gene fusions (eg, PAX3/FOXO1 gene fusion observed in alveolar rhabdomyosarcoma, EWSR1-FLI1 gene fusion for Ewing sarcoma, SS18-SSX1/2 gene fusion for synovial...

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

Aiding in the diagnosis of dengue virus infection

STL - Overview: Enteric Pathogens Culture, Feces

Determining whether a bacterial enteric pathogen is the cause of diarrhea May be helpful in identifying the source of the infectious agent (eg, dairy products, poultry, water, or meat) This test is generally not useful for patients...

CIB - Overview: Cutaneous Direct Immunofluorescence Assay, Varies

Confirming a diagnosis of bullous pemphigoid, cicatricial pemphigoid, pemphigoid gestationis and other variants of pemphigoid, all types of pemphigus, including paraneoplastic pemphigus (paraneoplastic multiorgan syndrome), dermatitis...

HTLVI - Overview: Human T-Cell Lymphotropic Virus Types I and II Antibody Screen with Confirmation, Serum

Qualitative detection of human T-cell lymphotropic virus types I and II (HTLV-I and HTLV-II)-specific antibodies with confirmation and differentiation between HTLV-I and HTLV-II infection This test should not be used to screen blood, human...