Test Catalog Search Results

RBART - Overview: Bartter Syndrome Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of Bartter syndrome Establishing a diagnosis of Bartter syndrome

B2GMG - Overview: Beta-2 Glycoprotein 1 Antibodies, IgG and IgM, Serum

Evaluating patients with suspected antiphospholipid syndrome by identification of beta-2 glycoprotein 1 IgM and IgG antibodies First-line test when antiphospholipid syndrome is strongly suspected in conjunction with cardiolipin antibodies...

INTAD - Overview: Adalimumab Panel, Interpretation

Interpretation of therapeutic drug monitoring of adalimumab concentration and antibody levels

HCVQG - Overview: Hepatitis C Virus (HCV) RNA Quantification with Reflex to HCV Genotype, Serum

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 and determining HCV genotype (1 to 5) to guide...

SMCP - Overview: Inherited Skeletal Muscle Channelopathy Gene Panel, Varies

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

CHBVS - Overview: Chronic Hepatitis B Screen, Serum

Diagnosis and evaluation of patients at risk for or suspected of having chronic hepatitis B This test is not offered as a screening or confirmatory test for blood donor specimens. This test is not useful during the "window period" of...

COGBM - Overview: Chromosome Analysis, Hematologic Disorders, Children's Oncology Group Enrollment Testing, Bone Marrow

Evaluation of pediatric bone marrow specimens for chromosomal abnormalities associated with hematologic malignancies for diagnostic and prognostic purposes in patients being considered for enrollment in Children's Oncology Group clinical...

CMACB - Overview: Chromosomal Microarray, Congenital, Blood

First-tier, postnatal testing for individuals with multiple anomalies that are not specific to well-delineated genetic syndromes, apparently nonsyndromic developmental delay or intellectual disability, or autism spectrum disorders as...

CORTO - Overview: Cortisol, Free and Total, Serum

Assessment of cortisol status in cases where there is known or a suspected abnormality in cortisol-binding proteins or albumin Assessment of adrenal function in the critically ill or stressed patient, thus preventing unnecessary use of...

HBABY - Overview: Hepatitis B Virus Perinatal Exposure Follow-up Panel, Serum

Determining hepatitis B virus infection and immunity status (with or without perinatal prophylaxis) in infants born to mothers with chronic hepatitis B

HITIG - Overview: Heparin-PF4 IgG Antibody, Serum

Detection of IgG antibodies directed against heparin/platelet factor 4 complexes that are implicated in the pathogenesis of immune-mediated type II heparin-induced thrombocytopenia, spontaneous heparin platelet-factor 4 IgG antibody, and...

CLPMG - Overview: Phospholipid (Cardiolipin) Antibodies, IgG and IgM, Serum

The following clinical situations: -Unexplained arterial or venous thrombosis -A history of pregnancy morbidity defined as 1 or more unexplained deaths of a morphologically normal fetus beyond the 10th week of gestation, 1 or more premature...

QFT4 - Overview: QuantiFERON-TB Gold Plus, Blood

Indirect test for Mycobacterium tuberculosis infection, to be used in conjunction with risk assessment, radiography, and other medical and diagnostic evaluations This test is not recommended for use for diagnosis of active tuberculosis...

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)...

SERU - Overview: Serotonin, 24 Hour, Urine

Diagnosis of a small subgroup of carcinoid tumors that produce predominately 5-hydroxytryptophan (5-HTP) but very little serotonin and chromogranin A Follow-up for patients with known or treated carcinoid tumors that produce predominately...

SMN1Z - Overview: SMN1 Gene, Full Gene Analysis, Varies

Confirming a diagnosis of spinal muscular atrophy due to nucleotide variants in SMN1 gene Second-tier carrier screening when there is a family history of spinal muscular atrophy, but an affected individual is not available for testing, or...

TBIDS - Overview: Culture Referred for Identification, Mycobacterium and Nocardia with Antimicrobial Susceptibility Testing, Varies

Rapid identification to the species level and susceptibility testing for Mycobacterium species, Nocardia species, and other aerobic actinomycete genera and species from pure culture isolates

CARBR - Overview: Carbamazepine Hypersensitivity Pharmacogenomics, Varies

Identifying individuals with increased risk of carbamazepine- or oxcarbazepine-associated cutaneous adverse reactions

CMPRE - Overview: Family Member Comparator Specimen for Exome Sequencing, Varies

Submitting a biological family member's specimen to be used as a comparator for affected patients (probands) undergoing whole exome sequencing

MTBRP - Overview: Mycobacterium tuberculosis Complex, Molecular Detection, PCR, Varies

Rapid detection of Mycobacterium tuberculosis complex DNA (preferred method) Detection of M tuberculosis, when used in conjunction with mycobacterial culture This test does not assess M tuberculosis rifampin resistance. This test...

LYMPV - Overview: Lyme Disease, Molecular Detection, PCR, Varies

Supporting the diagnosis of Lyme disease in conjunction with serologic testing Specific indications including testing skin biopsies when a rash lesion is not characteristic of erythema migrans and testing synovial fluid or synovium to...

TLTE4 - Overview: Leukotriene E4, 24 Hour, Urine

Aiding in the evaluation of patients at-risk for mast cell activation syndrome (eg, systemic mastocytosis, IgE-mediated allergies, or aspirin-exacerbated respiratory disease) using 24-hour urine collections

MGMR - Overview: Myasthenia Gravis Evaluation with Muscle-Specific Kinase (MuSK) Reflex, Serum

Diagnosing autoimmune myasthenia gravis (MG) in adults and children Distinguishing autoimmune from congenital MG in adults and children or other acquired forms of neuromuscular junction transmission disorders Establishing a quantitative...

SMNCS - Overview: Spinal Muscular Atrophy Carrier Screening, Deletion/Duplication Analysis, Varies

General population carrier screening for spinal muscular atrophy (SMA) Carrier screening for reproductive partners of known SMA carriers Carrier screening for parents of a child with a known deletion of the survival motor neuron 1 gene...

TTGG - Overview: Tissue Transglutaminase Antibody, IgG, Serum

Individuals with IgA deficiency Evaluating patients suspected of having celiac disease, including patients with compatible clinical symptoms, patients with atypical symptoms, and individuals at increased risk (family history, previous...

TTGA - Overview: Tissue Transglutaminase Antibody, IgA, Serum

Assessment of tissue transglutaminase IgA antibodies for evaluating patients suspected of having celiac disease, including patients with compatible clinical symptoms, patients with atypical symptoms, and individuals at increased risk...

TSTGP - Overview: Tissue Transglutaminase Antibodies, IgA and IgG Profile, Serum

Evaluating patients suspected of having celiac disease, including patients with compatible clinical symptoms, patients with atypical symptoms, and individuals at increased risk (family history, previous diagnosis with associated disease,...

MULT - Overview: Zygosity Testing (Multiple Births), Varies

Determining genetic risk for an individual whose twin or triplet is affected with a genetic disorder for which a specific genetic test is not available (or such testing is uninformative) Assessment of risks prenatally when one fetus of...

3A4Q - Overview: Cytochrome P450 3A4 Genotype, Varies

Aids in determining therapeutic strategies for drugs that are metabolized by cytochrome P450 3A4, including quetiapine This test is not useful for managing patients receiving fluvastatin, rosuvastatin, or pravastatin since these drugs are...

3A5Q - Overview: Cytochrome P450 3A5 Genotype, Varies

Aids in optimizing treatment with tacrolimus and other drugs metabolized by cytochrome P450 3A5

CPVTG - Overview: Catecholaminergic Polymorphic Ventricular Tachycardia Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of catecholaminergic polymorphic ventricular tachycardia (CPVT) Establishing a diagnosis of CPVT

CSFP - Overview: Carrier Screen, Focused Panel, Varies

Expanded carrier screening for reproductive risk assessment purposes This test is not useful for clinical diagnosis of an affected individual.

DPYDQ - Overview: Dihydropyrimidine Dehydrogenase Genotype, Varies

Identifying individuals with genetic variants in DPYD who are at increased risk of toxicity when prescribed 5-fluorouracil (5-FU) or capecitabine chemotherapy treatment

EDMDP - Overview: Inherited Emery-Dreifuss Gene Panel, Varies

Establishing a molecular diagnosis for patients with Emery-Dreifuss muscular dystrophy Identifying variants within genes known to be associated with Emery-Dreifuss muscular dystrophy, allowing for predictive testing of at-risk family...

KRABZ - Overview: Krabbe Disease, Full Gene Analysis and Large (30 kb) Deletion, Varies

Second-tier test for confirming a diagnosis of Krabbe disease Carrier testing for individuals with a family history of Krabbe disease in the absence of known sequence variants in the family

EGFRW - Overview: EGFR Targeted Mutation Analysis with ALK Reflex, Tumor

Identifying non-small cell lung cancers that may benefit from treatment with epidermal growth factor receptor -targeted therapies or anaplastic lymphoma kinase inhibitors

CMSP - Overview: Inherited Congenital Myasthenic Syndrome Gene Panel, Varies

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

MOGFS - Overview: Myelin Oligodendrocyte Glycoprotein (MOG-IgG1) Fluorescence-Activated Cell Sorting (FACS) Assay, Serum

Diagnosis of inflammatory demyelinating diseases (IDD) with similar phenotype to neuromyelitis optica (NMO) spectrum disorder (NMOSD), including optic neuritis (single or bilateral) and transverse myelitis Diagnosis of autoimmune myelin...

APGP - Overview: Acute Porphyria Gene Panel, Varies

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

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

HBPES - Overview: Hepatitis B Virus Past Exposure Panel, Serum

Screening for past exposure to hepatitis B virus (HBV) Determining HBV infection and immunity status prior to initiating chemotherapy or other immunosuppressive agents

NCLGP - Overview: Neuronal Ceroid Lipofuscinosis (Batten Disease) Gene Panel, Varies

Follow up for abnormal biochemical or electron microscopy results suspicious for neuronal ceroid lipofuscinoses (NCL) Establishing a molecular diagnosis for patients with NCL Identifying variations within genes known to be associated with...

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

LNBAB - Overview: Lyme Central Nervous System Infection IgG with Antibody Index Reflex, Serum and Spinal Fluid

Aiding in the diagnosis of neuroinvasive Lyme disease or neuroborreliosis due to Borrelia species associated with Lyme disease (eg, Borrelia burgdorferi, Borrelia garinii, Borrelia afzelli)

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

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...

HMEP - Overview: Hemiplegic Migraine With or Without Epilepsy Gene Panel, Varies

Establishing a molecular diagnosis in individuals with hemiplegic migraine Identifying disease-causing variants within genes known to be associated with hemiplegic migraine, allowing for predictive testing of at-risk family members

3MGAP - Overview: 3-Methylglutaconic Aciduria Panel, Varies

Follow up for abnormal biochemical results suggestive of 3-methylglutaconic aciduria (3-MGA) Establishing a molecular diagnosis for patients with 3-MGA Identifying variants within genes known to be associated with3-MGA, allowing for...

GA2P - Overview: Glutaric Aciduria Type II Gene Panel, Varies

Follow up for abnormal biochemical results suggestive of glutaric acidemia type II Establishing a molecular diagnosis for patients with glutaric acidemia type II Identifying variants within genes known to be associated with glutaric...