GLP - Overview: Glucagon, Plasma
Diagnosis and follow-up of glucagonomas and other glucagon-producing tumors Assessing diabetic patients with problematic hyper- or hypoglycemic episodes (extremely limited utility)
Detecting in utero drug exposure to marijuana (tetrahydrocannabinol) 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...
GLSF - Overview: Glucose, Spinal Fluid
Investigating possible central nervous system infection
8INHT - Overview: Factor VIII Inhibitor Profile, Technical Interpretation
Technical interpretation of inhibitor to factor VIII testing This test is not useful for the detection of a lupus-like circulating anticoagulant inhibitor, a nonspecific circulating anticoagulant, or other inhibitors that are not specific...
FNEU - Overview: Neurotransmitter Metabolites (5HIAA, HVA, 3OMD) (CSF)
Neurotransmitter Metabolites (5HIAA, HVA, 3OMD) (CSF)
CSU - Overview: Chyluria Screen, Random, Urine
Aiding in the diagnosis of chyluria (galacturia)
WESDX - Overview: Whole Exome Sequencing for Hereditary Disorders, Varies
Serving as a first-tier test to identify a molecular diagnosis in patients with suspected genetic disorders, which can allow for: -Better understanding of the natural history/prognosis -Targeted management (anticipatory guidance, management...
BPGMM - Overview: 2,3-Bisphosphoglycerate Mutase, Full Gene Sequencing Analysis, Varies
Diagnosing 2,3-bisphosphoglycerate mutase deficiency in individuals with lifelong, unexplained erythrocytosis Identifying genetic variant carriers in family members of an affected individual for the purposes of preconception genetic...
VWACT - Overview: von Willebrand Factor Activity, Plasma
Diagnosis of von Willebrand disease (VWD) and differentiation of VWD subtypes or differentiation of VWD from hemophilia A Monitoring therapeutic efficacy of treatment with DDAVP (desmopressin) or VWF concentrates in patients with VWD
BLWX - Overview: Walnut-Food Components, IgE, Serum
Evaluation of patients with suspected walnut-food allergy to one of 2 walnut-food components
LPCBS - Overview: Lysophosphatidylcholines, LC MS/MS, Blood Spot
Second-tier newborn screen for X-linked adrenoleukodystrophy This test is not intended for metabolic screening of symptomatic patients. This test is supplemental and not intended to replace state mandated newborn screening.
POLET - Overview: POLE Mutation Analysis, Next-Generation Sequencing, Tumor
Identifying specific mutations within the POLE gene to assist in tumor diagnosis/classification
PSF - Overview: Protein S Antigen, Free, Plasma
As part of an investigation of patients with a history of thrombosis
Assessing sensitization to various inhalant allergens commonly found in the North Atlantic region including Connecticut, Maryland, Maine, New Hampshire, New Jersey, New York, Pennsylvania, Rhode Island, and Vermont Defining the allergen...
PMS2 - Overview: PMS2 Immunostain, Technical Component Only
Identifying patients at high risk for having hereditary nonpolyposis colorectal cancer, also known as Lynch syndrome, in an immunopanel including PMS2 and other mismatch repair markers Evaluation of tumor tissue to identify patients at...
RPR5 - Overview: Respiratory Profile, Region 5, Ohio Valley (IN, KY, OH, TN, WV), Serum
Assessing sensitization to various inhalant allergens commonly found in the Ohio Valley region including Indiana, Kentucky, Ohio, Tennessee, and West Virginia Defining the allergen responsible for eliciting signs and symptoms...
PD2T - Overview: Pompe Disease Second-Tier Newborn Screening, Blood Spot
Second-tier testing of newborns with an abnormal primary screening result for Pompe disease (decreased acid alpha-glucosidase enzyme activity) Follow-up testing for evaluation of an abnormal newborn screening result for Pompe disease
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...
Detection of acute hepatitis C virus (HCV) infection before the appearance of HCV antibodies in serum (ie, <2 months from exposure) Detection and confirmation of chronic HCV infection Quantification of HCV RNA in serum of patients with...
IDTRT - Overview: IDH1, IDH2, and TERT Mutation Analysis, Next-Generation Sequencing, Tumor
Identifying specific mutations within the IDH1 and IDH2 genes and the TERT promoter to assist in tumor diagnosis/classification
TFH - Overview: FH Mutation Analysis, Next-Generation Sequencing, Tumor
Identifying specific mutations within the FH gene to assist in tumor diagnosis/classification, including renal cell carcinoma, uterine/cutaneous leiomyoma, and pheochromocytoma/paraganglioma
TTRX - Overview: Amyloidosis, Transthyretin-Associated Familial, Reflex, Blood
Diagnosis of adult individuals suspected of having transthyretin-associated familial amyloidosis
APCRR - Overview: Activated Protein C Resistance V, with Reflex to Factor V Leiden, Blood and Plasma
Evaluating patients with incident or recurrent venous thromboembolism (VTE) Evaluating individuals with a family history of VTE
An aid in the diagnosis of alveolar soft-part sarcoma or renal cell carcinoma variant when used in conjunction with an anatomic pathology consultation
BRCAT - Overview: BRCA1/2 Mutation Analysis, Next-Generation Sequencing, Tumor
Identifying specific mutations within the BRCA1 and BRCA2 genes known to be associated with response to PARP inhibitors and sensitivity to platinum-based therapy This test is not intended for the evaluation of patients suspected of having...
BRAZR - Overview: Brazil Nut, IgE with Reflex to Brazil Nut Component, IgE, Serum
Evaluation of patients with suspected Brazil nut allergy
MLH1 - Overview: MLH1 Immunostain, Technical Component Only
Evaluation of tumor tissue to identify patients at high risk for having hereditary nonpolyposis colorectal cancer, also known as Lynch syndrome Evaluation of tumor tissue to identify patients at risk for having hereditary endometrial...
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
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...
PBC2 - Overview: SP100 and GP210 Antibodies, IgG, Serum
Evaluating the risk of primary biliary cholangitis in anti-mitochondrial antibody (AMA)-negative patients by identification of Sp100 and gp210 antibodies Estimating risk in AMA-positive patients with incomplete feature of disease
SHBG1 - Overview: Sex Hormone-Binding Globulin, Serum
Diagnosis and follow-up of women with signs or symptoms of androgen excess (eg, polycystic ovarian syndrome and idiopathic hirsutism) An adjunct in monitoring sex-steroid and antiandrogen therapy An adjunct in the diagnosis of disorders...
SS18F - Overview: Synovial Sarcoma (SS), 18q11.2 (SS18 or SYT) Rearrangement, FISH, Tissue
Supporting the diagnosis of synovial sarcoma when used in conjunction with an anatomic pathology consultation
NTRKM - Overview: NTRK Genes Mutation Analysis, Next-Generation Sequencing, Tumor
Identifying NTRK mutations that may predict resistance to Trk inhibitors
LCAF - Overview: Lung Cancer, ALK (2p23) Rearrangement, FISH, Tissue
Identifying patients with non-small cell lung carcinoma who may benefit from treatment with directed tyrosine kinase inhibitors
BRBPS - Overview: Broad Range Bacterial PCR and Sequencing, Varies
Detecting and identifying bacteria (including mycobacteria) from normally sterile sources, including synovial fluid; body fluids such as pleural, peritoneal, and pericardial fluids, cerebrospinal fluid; and both fresh and formalin-fixed...
MDYSP - Overview: Inherited Muscular Dystrophy Gene Panel, Varies
Establishing a molecular diagnosis for patients with muscular dystrophy Identifying variants within genes known to be associated with muscular dystrophy, allowing for predictive testing of at-risk family members
PWAS - Overview: Prader-Willi/Angelman Syndrome, Molecular Analysis, Varies
Confirmation of diagnosis in patients suspected of having either Prader-Willi syndrome (PWS) or Angelman syndrome (AS) based on clinical assessment or previous laboratory analysis Prenatal diagnosis in families at risk for PWS or AS
NAGR - Overview: Hexosaminidase A and Total, Leukocytes/Molecular Reflex, Whole Blood
Carrier detection and diagnosis of Tay-Sachs disease Carrier detection and diagnosis of Sandhoff disease
HMU24 - Overview: Heavy Metals Screen, with Reflex, 24 Hour, Urine
Detecting arsenic, cadmium, mercury, and lead exposure and toxicity using 24-hour urine specimens
Comprehensive evaluation of the GATA2 gene in patients with clinical or immunological symptoms suggestive of GATA-binding protein 2 (GATA2) deficiency Screening family members of patients with confirmed GATA2 deficiency
Detection of high-risk (HR) genotypes associated with the development of cervical cancer Aids in triaging women with abnormal Pap smear results Individual genotyping of human papillomavirus (HPV)-16 and/or HPV-18 if present Results of...
INFXP - Overview: Infliximab Quantitation with Antibodies to Infliximab, Serum
Trough level quantitation for evaluation of patients undergoing therapy with infliximab for proactive or reactive therapeutic drug monitoring.
PARDP - Overview: Inherited Parkinson Disease Gene Panel, Varies
Establishing a molecular diagnosis for patients with Parkinson disease Identifying variants within genes known to be associated with Parkinson disease, allowing for predictive testing of at-risk family members
MCP2Z - Overview: MECP2 Gene, Full Gene Analysis, Varies
Establishing a molecular diagnosis in individuals with features of Rett syndrome and MECP2-related disorders Identifying pathogenic variants within the MECP2 gene known to be associated with Rett syndrome and MECP2-related disorders,...
NTC3Z - Overview: NOTCH3 Gene, Full Gene Analysis, Varies
Establishing a molecular diagnosis in individuals with features of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and NOTCH3-related disorders Identifying disease-causing variants...
Detecting a neoplastic clone associated with Philadelphia chromosome-like acute lymphoblastic leukemia (ALL), particularly when a classic abnormality is not detected with the initial panel An adjunct to conventional chromosome studies in...
CLADP - Overview: Congenital Lactic Acidosis Panel, Varies
Follow up for abnormal biochemical results suggestive of congenital lactic acidosis Establishing a molecular diagnosis for patients with congenital lactic acidosis Identifying variants within genes known to be associated with congenital...
CMAPC - Overview: Chromosomal Microarray, Autopsy, Products of Conception, or Stillbirth
Prenatal diagnosis of copy number changes (gains or losses) across the entire genome Diagnosing chromosomal causes for fetal death Determining recurrence risk of future pregnancy losses Determining the size, precise breakpoints, gene...
Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of Epstein-Barr virus (EBV) susceptibility or a heritable predisposition to lymphoproliferative disease Establishing a diagnosis of a...
The Region 4 Stork (R4S) Collaborative Project - Insights
describing the products and clinical tools of a laboratory quality improvement project called Region 4 Stork, or R4S....
The Region 4 Stork (R4S) Collaborative Project - Insights
describing the products and clinical tools of a laboratory quality improvement project called Region 4 Stork, or R4S....
The Region 4 Stork (R4S) Collaborative Project - Insights
describing the products and clinical tools of a laboratory quality improvement project called Region 4 Stork, or R4S....
The Region 4 Stork (R4S) Collaborative Project - Insights
describing the products and clinical tools of a laboratory quality improvement project called Region 4 Stork, or R4S....
The Region 4 Stork (R4S) Collaborative Project - Insights
describing the products and clinical tools of a laboratory quality improvement project called Region 4 Stork, or R4S....