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Test Catalog

PLAFL - Overview: Platelet Surface Glycoprotein by Flow Cytometry, Blood

Identification of markedly decreased CD41 (GPIIb) and CD61 (GPIIIa) expression levels, which are diagnostic for Glanzmann thrombasthenia Identification of markedly decreased CD42a (GPIX) and CD42b (GPIb-alpha) expression levels, which are...

MPS3B - Overview: Mucopolysaccharidosis III, Three-Enzyme Panel, Blood Spot

Supporting the biochemical diagnosis of mucopolysaccharidoses types IIIA, IIIB, IIIC This test is not useful for carrier detection.

PMMIL - Overview: Phosphomannomutase and Phosphomannose Isomerase, Leukocytes

Diagnosing congenital disorders of glycosylation Ia (phosphomannomutase-2 deficiency: PMM2-CDG) and Ib (phosphomannose isomerase deficiency: MPI-CDG) as measured in leukocytes Follow-up testing for patients with an abnormal type I CDG...

HTLLC - Overview: Human T-Cell Lymphotropic Virus Types 1 and 2 (HTLV-1/-2) Antibody Confirmation, Spinal Fluid

Confirmatory detection of human T-cell lymphotropic virus types 1 and 2 (HTLV-1 and HTLV-2)-specific IgG antibodies in spinal fluid specimens that are consistently reactive by initial screening tests Differentiating between HTLV-1- and...

HBVQN - Overview: Hepatitis B Virus (HBV) DNA Detection and Quantification by Real-Time PCR, Serum

Detection and quantification of hepatitis B virus (HBV) DNA in serum of patients with chronic HBV infection (ie, hepatitis B surface antigen-positive) Monitoring disease progression in chronic HBV infection Monitoring response to anti-HBV...

HCVL - Overview: Hepatitis C Virus Antibody Confirmation, Serum

Confirming the presence of hepatitis C virus (HCV)-specific IgG antibodies in serum specimens that are reactive by HCV antibody screening tests Distinguishing between true- and false-reactive HCV antibody screening test results This test...

WGSEQ - Overview: Gamma-Globin Full Gene Sequencing, Varies

An adjunct in the interpretation of hemoglobin electrophoresis results Evaluation for suspected gamma variants or nondeletional hereditary persistence of fetal hemoglobin Assessment of unstable gamma chain variants when other tests for...

I2SB - Overview: Iduronate-2-Sulfatase, Blood Spot

Supporting the biochemical diagnosis of mucopolysaccharidosis II (MPS II; Hunter syndrome) This test is not useful for determining carrier status for MPS II.

ARSU - Overview: Arylsulfatase A, 24 Hour, Urine

Detection of arylsulfatase A deficiency using urine specimens This test is not suitable for carrier detection.

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

WBGDD - Overview: Beta-Globin Gene Cluster, Deletion/Duplication, Varies

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...

PEE - Overview: Porphyrins Evaluation, Whole Blood

Establishing a biochemical diagnosis of erythropoietic protoporphyria and X-linked dominant protoporphyria

TPPA - Overview: Syphilis Antibody, Treponema pallidum Particle Agglutination, Serum

An aid to resolve discrepant results between screening treponemal and non-treponemal assays This test is not recommended for general screening purposes for syphilis. This test should not be used to evaluate response to therapy. This test...

TSI - Overview: Thyroid-Stimulating Immunoglobulin, Serum

Second-order testing for autoimmune thyroid disease, including: -Differential diagnosis of etiology of thyrotoxicosis in patients with ambiguous clinical signs or contraindicated (eg, pregnant or breast-feeding) or indeterminate thyroid...

CMAPT - Overview: Chromosomal Microarray, Tumor, Formalin-Fixed Paraffin-Embedded

Genomic characterization of tumor for copy number imbalances and loss of heterozygosity Assisting in the diagnosis and classification of malignant neoplasms Evaluating the prognosis for patients with malignant tumors

EBVAB - Overview: Epstein-Barr Virus Antibody Profile, Serum

Diagnosis of Epstein-Barr virus (EBV) infectious mononucleosis or other EBV related infections Identification of prior EBV infection as part of pre-immunosuppression screening This assay is not intended for viral isolation or...

MLHPB - Overview: MLH1 Hypermethylation Analysis, Blood

As an adjunct to positive hypermethylation in tumor to distinguish between somatic and germline hypermethylation As an adjunct to negative MLH1 germline testing in cases where colon or endometrial tumor demonstrates microsatellite...

FPFUZ - Overview: Phenosense Entry HIV Drug Resistance Assay

Determines phenotypic susceptibility to enfuvirtide (Fuzeon) and assesses likely effectiveness before enfuvirtide is added to a patient's regimen or before changing a regimen that includes enfuvirtide.

RP - Overview: Respiratory Panel, PCR, Nasopharyngeal

Rapid detection of respiratory infections caused by the following: -Adenovirus -Coronavirus serotypes HKU1, NL63, 229E, OC43 - SARS-CoV-2, the causative agent of COVID-19 -Human metapneumovirus -Human rhinovirus/enterovirus -Influenza A...

PEPAN - Overview: Comprehensive Peripheral Neuropathy Gene Panel, Varies

Establishing a molecular diagnosis for patients with peripheral neuropathy Identifying variants within genes known to be associated with peripheral neuropathy, allowing for predictive testing of at-risk family members

NMITO - Overview: Nuclear Mitochondrial Gene Panel, Next-Generation Sequencing, Varies

Diagnosing the subset of mitochondrial disease that results from variants in the nuclear-encoded genes A second-tier test for patients in whom previous targeted gene variant analyses for specific mitochondrial disease-related genes were...

THEV1 - Overview: Thalassemia and Hemoglobinopathy Evaluation, Blood and Serum

Evaluation of microcytosis Extensive and economical diagnosis and classification of hemoglobinopathies or thalassemia, including complex disorders Diagnosis of hereditary persistence of hemoglobin

DWPAN - Overview: Comprehensive Distal Weakness Gene Panel, Varies

Establishing a molecular diagnosis for patients with distal weakness Identifying variants within genes known to be associated with distal weakness, allowing for predictive testing of at-risk family members

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...

MSMRD - Overview: Myeloma Stratification and Risk-Adapted Therapy with Reflex to Minimal Residual Disease, Bone Marrow

Risk stratification of patients with treated multiple myeloma, which can assist in determining treatment and management decisions Risk stratification of patients with newly diagnosed multiple myeloma

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