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...

F8INV - Overview: Hemophilia A F8 Gene, Intron 1 and 22 Inversion Mutation Analysis, Whole Blood

First-tier molecular testing for male patients affected with severe hemophilia A when a variant has not been identified in the family Determining hemophilia A carrier status for at-risk female patients, ie, individuals with a family...

F81B - Overview: Hemophilia A F8 Gene, Intron 1 Inversion Known Mutation, Whole Blood

First-tier molecular testing for male patients affected with severe hemophilia A, when a familial intron 1 inversion has been previously identified Determining hemophilia A carrier status for at-risk female patients, ie, individuals with...

IFG23 - Overview: Intact Fibroblast Growth Factor 23, Serum

Diagnosing and monitoring tumor induced osteomalacia Diagnosing X-linked hypophosphatemia or autosomal dominant hypophosphatemic rickets Diagnosing familial tumoral calcinosis with hyperphosphatemia

POX - Overview: Fatty Acid Profile, Peroxisomal (C22-C26), Serum

Evaluating patients with possible peroxisomal disorders, single-enzyme defects of peroxisomal metabolism, such as X-linked adrenoleukodystrophy or peroxisomal biogenesis disorders (Zellweger syndrome spectrum) using serum specimens Aiding...

POXP - Overview: Fatty Acid Profile, Peroxisomal (C22-C26), Plasma

Evaluating patients with possible peroxisomal disorders, including peroxisomal biogenesis disorders, X-linked adrenoleukodystrophy, and Refsum disease using plasma specimens Aiding in the assessment of peroxisomal function

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.

BTK - Overview: Bruton Tyrosine Kinase, Protein Expression, Flow Cytometry, Blood

Preliminary screening for X-linked agammaglobulinemia, primarily in male patients (<65 years) or female carriers (child-bearing age: <45 years)

BAKDM - Overview: BCR/ABL1, Tyrosine Kinase Inhibitor Resistance, Kinase Domain Mutation Screen, Sanger Sequencing, Varies

Evaluating patients with chronic myelogenous leukemia and Philadelphia chromosome positive B-cell acute lymphoblastic leukemia receiving tyrosine kinase inhibitor (TKI) therapy, who are apparently failing treatment Preferred initial test...

BRAZR - Overview: Brazil Nut, IgE with Reflex to Brazil Nut Component, IgE, Serum

Evaluation of patients with suspected Brazil nut allergy

MSH2 - Overview: MSH2 Immunostain, Technical Component Only

Identifying patients at high risk for having hereditary nonpolyposis colorectal cancer, also known as Lynch syndrome, in an immunopanel including MSH2 and other mismatch repair markers Evaluation of tumor tissue to identify patients at...

MCMRU - Overview: Mast Cell Mediators, Random, Urine

Evaluating patients at risk for mast cell activation syndrome (eg, systemic mastocytosis) using random urine collections

PEWE - Overview: Porphyrins Evaluation, Washed Erythrocytes

Preferred test for analysis of erythrocyte porphyrins Establishing a biochemical diagnosis of erythropoietic protoporphyria, and X-linked dominant protoporphyria

CASHR - Overview: Cashew, IgE with Reflex to Cashew Component, IgE, Serum

Evaluation of patients with suspected cashew allergy

RAPAN - Overview: Rheumatoid Arthritis Panel, Serum

Evaluating patients suspected of having rheumatoid arthritis (RA) Differentiating RA from other inflammatory arthritis or connective tissue diseases Diagnosis and stratification of rheumatoid arthritis

9AINH - Overview: Factor IX Inhibitor Profile, Professional Interpretation

Interpretation for the detection and titering of coagulation inhibitor to the specific factor requested, primarily factor IX in patients with hemophilia B

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...

AHLP - Overview: AudioloGene Hearing Loss Panel, Varies

Establishing a diagnosis of a syndromic or nonsyndromic hereditary hearing loss disorder Identifying variants within genes known to be associated with hereditary hearing loss, allowing for predictive testing of at-risk family members

LDAI - Overview: Progentec aiSLE DX Lupus Disease Activity Index, Plasma

Aiding in the assessment of current systemic lupus erythematosus disease activity when used in conjunction with standard clinical assessment

PRL - Overview: Prolactin, Serum

Aiding in evaluation of pituitary tumors, amenorrhea, galactorrhea, infertility, and hypogonadism Monitoring therapy of prolactin-producing tumors

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).

PC2TC - Overview: Purkinje Cell Cytoplasmic Antibody Type 2 (PCA-2) Titer, Spinal Fluid

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

PC1TC - Overview: Purkinje Cell Cytoplasmic Antibody Type 1 (PCA-1) Titer, Spinal Fluid

Identifying female patients whose subacute cerebellar degeneration or peripheral neuropathy is due to a remote (autoimmune) effect of gynecologic or breast carcinoma Reporting an end titer result from spinal fluid specimens

HEXAZ - Overview: Tay-Sachs Disease, HEXA Gene, Full Gene Analysis, Varies

Second-tier test for confirming a biochemical diagnosis of Tay-Sachs disease (TSD) Carrier testing of individuals with a family history of TSD but an affected individual is not available for testing or disease-causing mutations have not...

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

Identifying carriers of vancomycin-resistant enterococci

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

Monitoring exposure and elimination of titanium

TIU24 - Overview: Titanium, 24 Hour, Urine

Monitoring exposure and elimination of titanium in a 24-hour urine specimen

BCGR - Overview: Immunoglobulin Gene Rearrangement, Blood

Determining whether a B-cell or plasma cell population is polyclonal or monoclonal using whole blood specimens Identifying neoplastic cells as having B-cell or plasma cell differentiation Monitoring for a persistent neoplasm by...

PAX8 - Overview: PAX8 Immunostain, Technical Component Only

Aids in the identification of renal cell carcinomas, as well as papillary thyroid carcinomas and tumors of Mullerian origin

PU1 - Overview: PU.1 Immunostain, Technical Component Only

Classification of lymphomas

RISA - Overview: Risankizumab, Serum

Assessing the response to risankizumab therapy Assessing the need for dose escalation Evaluating potential changes or discontinuation of therapy Monitoring patients who need to be above a certain risankizumab concentration to improve the...

CUS1 - Overview: Copper, Serum

Diagnosis of: -Wilson disease -Primary biliary cholangitis -Primary sclerosing cholangitis

HRTVS - Overview: Heartland Virus, RNA, Molecular Detection, PCR, Serum

Aiding in the diagnosis of central nervous system infection caused by Heartland virus using serum specimens

HG34W - Overview: Histone 3.3 G34W (H3F3A G34W) Immunostain, Technical Component Only

Aiding in the diagnosis of giant cell tumor of bone

HMHA - Overview: Heavy Metals, Hair

Detection of nonacute arsenic, mercury, and lead exposure using hair specimens

BCGBM - Overview: Immunoglobulin Gene Rearrangement, PCR, Bone Marrow

Determining whether a B-cell or plasma cell population is polyclonal or monoclonal using bone marrow specimens Identifying neoplastic cells as having B-cell or plasma cell differentiation Monitoring for a persistent neoplasm by...

JCPCR - Overview: JC Virus, Molecular Detection, PCR, Spinal Fluid

Aiding in diagnosing progressive multifocal leukoencephalopathy due to JC virus This test is not to be used as a diagnostic tool for Creutzfeldt-Jakob disease This test is not recommended for screening asymptomatic patients

MSMN - Overview: Membranous Nephropathy Target Antigen Identification, Mass Spectrometry, Tissue

Identification of antigen in membranous nephropathy

APOAB - Overview: Apolipoprotein A1 and B, Serum

Assessment of cardiovascular risk Follow-up studies in individuals with basic lipid measures inconsistent with risk factors or clinical presentation Definitive studies of cardiac risk factors in individuals with significant family...

AAMSD - Overview: Amino Acids, Maple Syrup Urine Disease Panel, Plasma

Follow-up of patients with maple syrup urine disease Monitoring of dietary compliance for patients with maple syrup urine disease

AFP - Overview: Alpha-Fetoprotein (AFP) Tumor Marker, Serum

Follow-up management of patients undergoing cancer therapy, especially for testicular and ovarian tumors and for hepatocellular carcinoma Often used in conjunction with human chorionic gonadotropin.(2) This test is not recommended as a...

BILEA - Overview: Bile Acids, Total, Serum

An aid in the evaluation of liver function Evaluation of liver function changes before the formation of more advanced clinical signs of illness such as icterus An aid in the determination of hepatic dysfunction as a result of chemical and...

FBILM - Overview: Biliary Tract Malignancy-Cytology, FISH, Varies

Assessing bile duct brushing or hepatobiliary brushing specimens for bile tract malignancy

CTBBL - Overview: Mycobacterial Culture, Blood

Diagnosing mycobacteremia

NMRLP - Overview: Nuclear Magnetic Resonance Lipoprotein Profile, Serum

Assessment and management of a patient's risk for atherosclerotic cardiovascular disease Identifying residual risk that may be present in some patients on cholesterol targeting treatment

SSA - Overview: SS-A/Ro Antibodies, IgG, Serum

Evaluating patients at-risk for connective tissue disease with or without interstitial lung disease Detection of both anti-SS-A 52 (Ro52) and SS-A 60 (Ro60) antibodies in serum

SLO - Overview: Smith-Lemli-Opitz Screen, Plasma

Diagnosing Smith-Lemli-Opitz syndrome (7-dehydrocholesterol reductase deficiency)

DHRF - Overview: Dihydrorhodamine Flow Cytometric N-Formyl-Methionyl-Leucyl-Phenylalanine Test, Blood

Evaluation of Rac2 deficiency and RAC2 gain of function

FUNID - Overview: Culture Referred for Identification, Fungus

Identification of pure isolates of filamentous fungi and yeast

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.