VZIKU - Overview: Zika Virus, PCR, Molecular Detection, Random, Urine

Qualitative detection of Zika virus RNA in paired urine and serum from individuals meeting the Centers of Disease Control and Prevention Zika virus clinical or epidemiologic criteria

WBSQR - Overview: Beta-Globin Gene Sequencing, Blood

Evaluating for the following in an algorithmic process for the HAEV1 / Hemolytic Anemia Evaluation, Blood; HBEL1 / Hemoglobin Electrophoresis Evaluation, Blood; MEV1 / Methemoglobinemia Evaluation, Blood; REVE2 / Erythrocytosis Evaluation,...

MPS2R - Overview: Endogenous Mucopolysaccharidosis Type II (I2S [Iduronate-2-Sulfatase]) Biomarker Reflex, Blood Spot

Second-tier testing of newborns with an abnormal primary screening result for mucopolysaccharidosis type II (MPS II, decreased iduronate-2-sulfatase) where quantitation of the glycosaminoglycans dermatan and heparan sulfate is desired in...

MPS1R - Overview: Endogenous Mucopolysaccharidosis Type I (IDUA [Alpha-L-Iduronidase]) Biomarker Reflex, Blood Spot

Second-tier testing of newborns with an abnormal primary screening result for mucopolysaccharidosis type I (MPS I, decreased alpha-L-iduronidase activity) where quantitation of the glycosaminoglycans dermatan and heparan sulfate is desired...

PBORB - Overview: Lyme Disease, Molecular Detection, PCR, Blood

Supporting the diagnosis of Lyme disease in conjunction with serologic testing This test should not be used to screen asymptomatic patients.

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...

PTTP - Overview: Prothrombin Time, Plasma

Screening assay to detect deficiencies of one or more coagulation factors (factors I, II, V, VII, X) Screening assay to detect coagulation inhibition Monitoring intensity of oral anticoagulant therapy when combined with INR reporting

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...

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...

ASOU - Overview: Arsenic Occupational Exposure, Random, Urine

Screening test for detection of occupational exposure to arsenic in random urine specimens

CRU - Overview: Chromium, 24 Hour, Urine

Screening for occupational exposure to chromium Monitoring metallic prosthetic implant wear

SDEX - Overview: Sickle Solubility, Blood

Screening for presence or absence of hemoglobin (Hb) S (sickle cell disease)

TRK - Overview: Tropomyosin Receptor Kinase (TRK) Immunostain, Technical Component Only

Helpful in the screening for neurotrophic tyrosine receptor kinase (NTRK) rearranged tumors

23BPR - Overview: 2,3-Dinor 11 Beta-Prostaglandin F2 Alpha, Random, Urine

Screening for mast cell activation disorders including systemic mastocytosis using random urine specimens

ARSAB - Overview: Arylsulfatase A, Blood Spot

Second-tier newborn screening test for metachromatic leukodystrophy (MLD) when sulfatides are elevated Enzymatic test for detection of arylsulfatase A deficiency This test is not suitable for carrier detection.

PGDBS - Overview: Plasmalogens, Blood Spot

Diagnosing patients with possible peroxisomal disorders, such as peroxisomal biogenesis disorders (Zellweger syndrome spectrum) and rhizomelic chondrodysplasia punctata (RCDP), including fatty acyl-CoA reductase 1 (FAR1)...

BTDZ - Overview: Biotinidase Deficiency, BTD Full Gene Analysis, Varies

Second-tier test for confirming biotinidase deficiency (indicated by biochemical testing or newborn screening) Carrier testing of individuals with a family history of biotinidase deficiency, but disease-causing mutations have not been...

RCTUR - Overview: Creatinine, Random, Urine

Calculation of creatinine clearance, a measure of renal function, when used in conjunction with serum creatinine Normalization of urinary analytes by creatinine concentration to account for the variation in urinary concentrations between...

ASUCR - Overview: Arsenic/Creatinine, Ratio, with Reflex, Random, Urine

Preferred screening test for detection of arsenic exposure using random urine specimens

ASUOE - Overview: Arsenic Occupational Exposure, with Reflex, Random, Urine

Preferred screening test for detection of occupational exposure to arsenic in random urine specimens

PLINK - Overview: Paroxysmal Nocturnal Hemoglobinuria, PI-Linked Antigen, Blood

Screening for and confirming the diagnosis of paroxysmal nocturnal hemoglobinuria (PNH) Monitoring patients with PNH

TPRPD - Overview: ThinPrep Diagnostic, Varies

Detecting cervical carcinoma or intraepithelial lesions when screening women for possible cervical neoplasia

HGEM - Overview: Hydroxyglutaric Acids, Glutaric Acid, Ethylmalonic Acid, and Methylsuccinic Acid, Blood Spot

Evaluation of patients with an abnormal newborn screen showing elevations of glutarylcarnitine (C5-DC) using dried blood spot specimens Evaluation of patients with abnormal newborn screens showing elevations of C4-acylcarnitine to aid in...

23BPT - Overview: 2,3-Dinor 11 Beta-Prostaglandin F2 Alpha, 24 Hour, Urine

Screening for mast cell activation disorders including systemic mastocytosis using 24-hour urine specimens

SALCT - Overview: Cortisol, Saliva

Screening for Cushing syndrome Diagnosis of Cushing syndrome in patients presenting with symptoms or signs suggestive of the disease

PTHRP - Overview: Parathyroid Hormone-Related Peptide, Plasma

Aiding in the evaluation of individuals with hypercalcemia of unknown origin Aiding in the evaluation of individuals with suspected humoral hypercalcemia of malignancy The test should not be used to exclude cancer or screen individuals...

WBGDR - Overview: Beta-Globin Gene Cluster Deletion/Duplication, Blood

Determining the etiology of hereditary persistence of fetal hemoglobin (HPFH), delta-beta thalassemia, or other large deletions involving the beta-globin gene cluster Diagnosing less common causes of beta-thalassemia; these large...

ASU24 - Overview: Arsenic with Reflex, 24 Hour, Urine

Preferred screening test for detection of arsenic exposure using 24-hour urine specimens

HMUCR - Overview: Heavy Metal/Creatinine Ratio, with Reflex, Random, Urine

Preferred screening test for detection of arsenic, cadmium, mercury, and lead in random urine specimens

PTU - Overview: Protein, Total, 24 Hour, Urine

Evaluation of kidney disease using a 24-hour urine collection Screening for monoclonal gammopathy

LENT - Overview: Enterovirus, Molecular Detection, PCR, Varies

Aiding in diagnosing enterovirus infections This test should not be used to screen asymptomatic patients.

PADF - Overview: Prenatal Aneuploidy Detection, FISH

Screening for chromosomal aneuploidies of chromosomes 13, 18, 21, X, and Y in prenatal specimens

MAGRU - Overview: Magnesium/Creatinine Ratio, Random, Urine

Assessing the cause of abnormal serum magnesium concentrations Determining whether nutritional magnesium loads are adequate Calculating urinary calcium oxalate and calcium phosphate supersaturation and assessing kidney stone risk.

WNCSF - Overview: West Nile Virus, RNA, PCR, Molecular Detection, Spinal Fluid

Rapid testing for West Nile virus (WNV) RNA (lineage 1 and lineage 2) using cerebrospinal fluid specimens An adjunctive test to serology for detection of early WNV infection (ie, first few days after symptom onset) This assay should not...

WNVBL - Overview: West Nile Virus, RNA, PCR, Molecular Detection, Blood

Rapid testing for West Nile virus (WNV) RNA (lineage 1 and lineage 2) An adjunctive test to serology for detection of early WNV infection (ie, first few days after symptom onset), with blood specimens potentially providing a greater...

WNVUR - Overview: West Nile Virus, RNA, PCR, Molecular Detection, Random, Urine

Rapid testing for West Nile virus (WNV) RNA (lineage 1 and lineage 2) An adjunctive test to serology for detection of early WNV infection (ie, first few days after symptom onset), with urine specimens potentially retaining WNV RNA longer...

CORTU - Overview: Cortisol, Free, 24 Hour, Urine

Preferred screening test for Cushing syndrome Diagnosis of pseudo-hyperaldosteronism due to excessive licorice consumption Test may not be useful in the evaluation of adrenal insufficiency.

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

META3 - Overview: Metanephrines with 3-Methoxytyramine, 24 Hour, Urine

A first- and second-tier screening test for the presumptive diagnosis of catecholamine-secreting pheochromocytomas and paragangliomas

PGRBC - Overview: Plasmalogens, Blood

Diagnosing patients with possible peroxisomal disorders, such as peroxisomal biogenesis disorders (Zellweger syndrome spectrum) and rhizomelic chondrodysplasia punctata (RCDP), including fatty acyl-CoA reductase 1 (FAR1) deficiency...

POWVU - Overview: Powassan Virus, RNA, Molecular Detection, PCR, Random, Urine

Rapid testing for Powassan virus RNA (lineage 1 and lineage 2) using random urine specimens An adjunctive test to serology for detection of early Powassan virus infection (ie, first few days after symptom onset). This assay should not...

POWVC - Overview: Powassan Virus, RNA, Molecular Detection, PCR, Spinal Fluid

Rapid testing for Powassan virus RNA (lineage 1 and lineage 2) using cerebrospinal fluid specimens An adjunctive test to serology for detection of early Powassan virus infection (ie, first few days after symptom onset) This assay should...

POWVB - Overview: Powassan Virus, RNA, Molecular Detection, PCR, Blood

Rapid testing for Powassan virus RNA (lineage 1 and lineage 2) using whole blood specimens An adjunctive test to serology for detection of early Powassan virus infection (ie, first few days after symptom onset) This assay should not be...

CHIKC - Overview: Chikungunya Virus, PCR, Molecular Detection, Spinal Fluid

Qualitative detection of chikungunya virus in cerebrospinal fluid after early symptom onset (ideally <7 days) This test is not recommended for screening healthy patients.

PKUSC - Overview: Phenylalanine and Tyrosine, Self-Collect, Blood Spot

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

NADF - Overview: Newborn Aneuploidy Detection, FISH, Blood

Screening for chromosomal aneuploidies of chromosomes 13, 18, 21, X, and Y in newborn peripheral blood specimens

EPCRB - Overview: Ehrlichia/Anaplasma, Molecular Detection, PCR, Blood

Evaluating patients suspected of acute anaplasmosis or ehrlichiosis This test should not be used for screening asymptomatic individuals.

CYPZ - Overview: 21-Hydroxylase Gene, CYP21A2, Full Gene Analysis, Varies

Carrier screening and diagnosis of 21-hydroxylase deficient congenital adrenal hyperplasia (CAH) in individuals with a personal or family history of 21-hydroxylase deficiency, or as follow-up to positive CAH newborn screens and/or...

C5OHU - Overview: C5-OH Acylcarnitine, Quantitative, Random, Urine

Evaluation of patients with an abnormal newborn screen showing elevations of 3-hydroxyisovaleryl-/2-methyl-3-hydroxybutyryl-carnitine

C5DCU - Overview: C5-DC Acylcarnitine, Quantitative, Random, Urine

Evaluation of patients with an abnormal newborn screen showing elevations of glutarylcarnitine Diagnosis of glutaric aciduria type 1 deficiency