SCARA - Overview: Spinocerebellar Ataxia Type 1, 2, 3, 6, or 7, Repeat Expansion Analysis, Varies

Diagnostic or predictive testing when clinical symptoms or a family history are specific to only one type of spinocerebellar ataxia

RPR2 - Overview: Respiratory Profile, Region 2, Mid-Atlantic (DC, DE, MD, NC, VA), Serum

Assessing sensitization to various inhalant allergens commonly found in the Mid-Atlantic region including the District of Columbia, Delaware, Maryland, North Carolina, and Virginia Defining the allergen responsible for eliciting signs and...

MPS2Z - Overview: Hunter Syndrome, Full Gene Analysis, Varies

Confirmation of a diagnosis of mucopolysaccharidosis type II (Hunter syndrome) Carrier testing when there is a family history of mucopolysaccharidosis type II (Hunter syndrome), but disease-causing variants have not been previously...

UPGDW - Overview: Uroporphyrinogen Decarboxylase, Washed Erythrocytes

Diagnosis of porphyria cutanea tarda type II and hepatoerythropoietic porphyria

BLWX - Overview: Walnut-Food Components, IgE, Serum

Evaluation of patients with suspected walnut-food allergy to one of 2 walnut-food components

ADMA - Overview: Asymmetric Dimethylarginine, Plasma

Assessing the likelihood of future coronary events in patients with coronary heart disease, type II diabetes mellitus, or kidney disease Prompting intervention and assessing improvements among subjects with elevated ADMA and...

MPSQU - Overview: Mucopolysaccharides Quantitative, Random, Urine

Supporting the biochemical diagnosis of one of the mucopolysaccharidoses: types I, II, III, IV, VI, or VII

UPGD - Overview: Uroporphyrinogen Decarboxylase, Whole Blood

Preferred test for the confirmation of a diagnosis of porphyria cutanea tarda type II and hepatoerythropoietic porphyria

CRUZI - Overview: Trypanosoma cruzi (Chagas) Antibody Panel, Serum

Diagnosis of chronic Trypanosoma cruzi infection (Chagas disease) using two different methods

HYOX - Overview: Hyperoxaluria Panel, Random, Urine

Distinguishing between primary and secondary hyperoxaluria Distinguishing between primary hyperoxaluria types 1, 2, and 3

LDALD - Overview: Lysosomal and Peroxisomal Disorders Newborn Screen, Blood Spot

First-tier newborn screen for the lysosomal disorders: Fabry, Gaucher, Krabbe, mucopolysaccharidosis I (MPS I) and II (MPS II), infantile neurovisceral or chronic visceral acid sphingomyelinase deficiency, and Pompe (glycogen storage...

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

2DIS - Overview: Human Leukocyte Antigens (HLA)-DR-DQ Disease Association Typing Low Resolution, Blood

Determining class II human leukocyte antigens (HLA) to identify potential disease associations or markers for drug hypersensitivity

HSVC - Overview: Herpes Simplex Virus (HSV), Molecular Detection, PCR, Spinal Fluid

Aiding in the rapid diagnosis of herpes simplex virus (HSV)-1 and HSV-2 infections of the central nervous system

H2MT - Overview: HER2 Amplification, Miscellaneous Tumor, FISH, Tissue

Guiding cancer therapy, as patients with HER2 amplification may be candidates for therapies that target the human epidermal growth factor receptor 2 (HER2) protein (eg, trastuzumab [Herceptin], pertuzumab) Confirming the presence of HER2...

SCL70 - Overview: Scl 70 Antibodies, IgG, Serum

Evaluating patients with clinical features of systemic sclerosis and in the differential evaluation of individuals at-risk for connective tissue disease with Hep-2 substrate antinuclear antibody positive result, preferably using antinuclear...

RB24 - Overview: Retinol-Binding Protein, 24 Hour, Urine

Assessing renal tubular injury or dysfunction Screening for other tubular abnormalities Detecting chronic asymptomatic renal tubular dysfunction.(2)

LNORO - Overview: Norovirus PCR, Molecular Detection, Feces

Diagnosing gastrointestinal disease (diarrhea or vomiting) caused by norovirus genogroups 1 and 2 This test should not be used as a test-of-cure.

RA1U - Overview: Alpha-1-Microglobulin, Random, Urine

Assessment of renal tubular injury or dysfunction using random urine specimens Screening for tubular abnormalities Detecting chronic asymptomatic renal tubular dysfunction (2)

HVPRS - Overview: HIV Antigen and Antibody Prenatal Routine Screen, Serum

Screening for HIV-1 and HIV-2 infection in nonsymptomatic pregnant patients This test should not be used as a screening or confirmatory test for blood donor specimens.

HIVSP - Overview: HIV Antigen and Antibody Prenatal Routine Screen, Plasma

Screening for HIV-1 and HIV-2 infection in nonsymptomatic pregnant patients This test should not be used as a screening or confirmatory test for blood donor specimens.

RBR - Overview: Retinol-Binding Protein, Random, Urine

Assessing renal tubular injury or dysfunction using random urine collections Screening for other tubular abnormalities Detecting chronic asymptomatic renal tubular dysfunction.(2)

EMAI - Overview: Epithelial Membrane Antigen (EMA) Immunostain, Technical Component Only

Recognizing epithelial derivation of poorly differentiated malignant tumors Subtyping intraductal papillary mucinous neoplasms when used in conjunction with mucin (MUC) 2, MUC5AC and MUC6

MPSER - Overview: Mucopolysaccharides Quantitative, Serum

Quantification of dermatan sulfate, heparan sulfate, and keratan sulfate in serum to support the biochemical diagnosis of mucopolysaccharidoses types I, II, III, IV, VI, or VII

MTDNU - Overview: Methadone Confirmation, Random, Urine

Monitoring for compliance of methadone treatment for analgesia or drug rehabilitation Assessing compliance with rehabilitation programs by urine measurement of 2-ethylidene-1,5-dimethyl-3,3-diphenylpyrrolidine

A124 - Overview: Alpha-1-Microglobulin, 24 Hour, Urine

Assessment of renal tubular injury or dysfunction using 24-hour urine collections Screening for tubular abnormalities Detecting chronic asymptomatic renal tubular dysfunction(2)

MPSWB - Overview: Mucopolysaccharidosis, Blood

Supporting the biochemical diagnosis of mucopolysaccharidoses type I, II, III, IV, or VI Quantification of heparan sulfate, dermatan sulfate, and keratan sulfate in whole blood specimens

PSHIV - Overview: HIV-1 RNA Patient Source, Plasma

Detection and diagnosis of HIV-1 infection in an acutely or early infected individual (including infants of <2 years of age) who is the source of blood or body fluid in an occupational exposure event

MPSBS - Overview: Mucopolysaccharidosis, Blood Spot

Supporting the biochemical diagnosis of mucopolysaccharidoses types I, II, III, IV, or VI Quantification of heparan sulfate, dermatan sulfate, and keratan sulfate in dried blood spot specimens

MP8BS - Overview: Mucopolysaccharidoses, Eight-Enzyme Panel, Blood Spot

Supporting the biochemical diagnosis of mucopolysaccharidoses types II, IIIA, IIIB, IIIC, IVA, IVB, VI, and VII, and of multiple sulfatase deficiency This test is not useful for carrier detection.

H2GE - Overview: HER2 Amplification Associated with Gastroesophageal Cancer, FISH, Tissue

A predictive marker for patients with both node-positive or node-negative primary and metastatic gastroesophageal cancer Guiding therapy for patients with primary or metastatic gastroesophageal tumors, as patients with HER2 amplification...

MP9W - Overview: Mucopolysaccharidoses, Nine-Enzyme Panel, Leukocytes

Supporting the biochemical diagnosis of mucopolysaccharidoses types II, IIIA, IIIB, IIIC, IIID, IVA, IVB, VI, and VII, and of multiple sulfatase deficiency This test is not useful for carrier detection.

PSPTG - Overview: Phosphatidylserine/Prothrombin Antibody, IgG, Serum

Detecting IgG antibodies against phosphatidylserine/prothrombin complex in patients with strong suspicion of antiphospholipid syndrome (APS) who are negative for the APS criteria laboratory tests (lupus anticoagulant, IgG and IgM...

CATN - Overview: Calcitonin, Serum

Aids in the diagnosis and follow-up of medullary thyroid carcinoma Aids in the evaluation of multiple endocrine neoplasia type II and familial medullary thyroid carcinoma This test is not useful for evaluating calcium metabolic...

H2BR - Overview: HER2 Amplification Associated with Breast Cancer, FISH, Tissue

A predictive marker for patients with both node-positive or node-negative primary and metastatic breast cancer Patients with HER2 amplification that may be candidates for therapies targeting the human epidermal growth factor receptor 2...

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)...

CTSU - Overview: Ceramide Trihexosides and Sulfatides, Random, Urine

Identifying patients with Fabry disease Identifying patients with metachromatic leukodystrophy Identifying patients with saposin B deficiency Identifying patients with multiple sulfatase deficiency Identifying patients with...

CH9 - Overview: Chromogenic Factor IX Activity Assay, Plasma

Monitoring coagulation factor replacement therapy of selected extended half-life coagulation factor replacements Aiding in the diagnosis of hemophilia B using a 2-stage assay, especially when a 1-stage assay was normal

F5DNA - Overview: Factor V Leiden (R506Q) Mutation, Blood

Patients with clinically suspected thrombophilia and: 1. Activated protein C (APC)-resistance either proven or suspected by a low or borderline APC-resistance ratio or 2. A family history of factor V Leiden

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

HERDM - Overview: HER2, Breast, DCIS, Quantitative Immunohistochemistry, Manual with HER2 FISH Reflex

Determining overexpression of HER2 protein on formalin-fixed, paraffin-embedded tissue sections in ductal carcinoma in situ or solid/intracystic papillary carcinoma breast tissue with a reflex to FISH testing if the specimen is equivocal...

PIK3T - Overview: PIK3CA Mutation Analysis, Tumor

Identification of hormone receptor positive and human epidermal growth factor receptor 2 negative (HR+/HER2-) advanced breast cancer tumors that may be eligible for treatment with targeted kinase inhibitor therapy (eg, alpelisib).

PIK3B - Overview: Cell-Free DNA PIK3CA Test, Blood

Identification of hormone receptor positive and human epidermal growth factor receptor 2 negative (HR+/HER2-) advanced breast cancer tumors that may be eligible for treatment with targeted kinase inhibitor therapy (eg, alpelisib).

CHF8 - Overview: Chromogenic Factor VIII Activity Assay, Plasma

Monitoring coagulation factor replacement therapy of selected extended half-life coagulation factor replacements Aiding in the diagnosis of hemophilia A using a 2-stage assay, especially when the 1-stage assay result was normal

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,...

CGAK - Overview: Chromogranin A, Serum

Aiding in monitoring disease progression during the course of disease and treatment in patients with gastroenteropancreatic neuroendocrine tumors (grade 1 and grade 2) when used in conjunction with other clinical methods This test is not...

VWFMS - Overview: von Willebrand Factor Multimer Analysis, Plasma

Resolving discrepancies when results of complementary laboratory tests (eg, F8A / Coagulation Factor VIII Activity Assay, Plasma; VWACT / von Willebrand Factor Activity, Plasma; and VWAG / von Willebrand Factor Antigen, Plasma) are...

SORBU - Overview: Sorbitol and Mannitol, Quantitative, Random, Urine

Monitoring effectiveness of treatment in patients with phosphomannomutase 2 deficiency (PMM2-CDG) Establishing a baseline level prior to initiating treatment for PMM2-CDG This test is not useful for diagnosing congenital disorders of...

ALDEF - Overview: Alpha Defensin, Lateral Flow Assay, Synovial Fluid

Detection of alpha defensins 1-3, human host response proteins, in synovial fluid of adults with a total joint replacement who are being evaluated for revision surgery This test is not intended to be used to determine timing for...

UGTFZ - Overview: UDP-Glucuronosyltransferase 1A1 (UGT1A1), Full Gene Sequencing, Varies

Establishing a diagnosis of Crigler-Najjar syndrome type I or type II and the trait of Gilbert syndrome Establishing carrier status for Crigler-Najjar syndrome type I or type II Identifying individuals who are at risk of...