Test Catalog Search Results

TGII - Overview: Thyroglobulin, Interference Interpretation

Interpretation for the evaluation of suspected interference from heterophile antibodies causing a falsely elevated thyroglobulin result

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)

SPPCI - Overview: Stiff-Person Spectrum Disorders including Progressive Encephalomyelitis with Rigidity and Myoclonus, Interpretation, Spinal Fluid

Interpretation for the evaluation of stiff-person spectrum disorders, including the classical or focal forms, such as stiff-limb or stiff-trunk, and progressive encephalomyelitis with rigidity and myoclonus, using spinal fluid specimens

VEGF - Overview: Vascular Endothelial Growth Factor, Plasma

Evaluation of patients with suspected POEMS (polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes) syndrome, particularly in differentiating from other forms of polyneuropathy and/or monoclonal plasma cell...

VALPF - Overview: Valproic Acid, Free, Serum

Monitoring free valproic acid in therapy Assessing compliance Evaluating potential toxicity

EZNT8 - Overview: Zinc Transporter 8 (ZnT8) Antibody, Serum

Clinical distinction of type 1 from type 2 diabetes mellitus Identification of individuals at risk of type 1 diabetes (including high-risk relatives of patients with diabetes, and those with gestational diabetes) Prediction of future need...

ACRNS - Overview: Acylcarnitines, Quantitative, Serum

Diagnosis of fatty acid oxidation disorders and several organic acidurias using serum specimens Evaluating treatment during follow-up of patients with fatty acid beta-oxidation disorders and several organic acidurias

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...

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...

HEMP - Overview: Hereditary Erythrocytosis Mutations, Whole Blood

Definitive evaluation of an individual with JAK2-negative erythrocytosis associated with lifelong sustained increased red blood cell (RBC) mass, elevated RBC count, hemoglobin, or hematocrit This test is not intended for prenatal...

GATAS - Overview: GATA-Binding Protein 2, GATA2, Full Gene Analysis, Next-Generation Sequencing, Varies

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

MFBNG - Overview: FBN1 Full Gene Sequencing with Deletion/Duplication, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of Marfan syndrome and other FBN1-related conditions Establishing a diagnosis for Marfan syndrome and other FBN1-related conditions

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

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

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

MFRGG - Overview: Marfan, Loeys-Dietz, and Aortopathy Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of Marfan syndrome and related conditions Establishing a diagnosis for Marfan syndrome, Loeys-Dietz syndrome, vascular Ehlers-Danlos syndrome,...

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

PANCP - Overview: Hereditary Pancreatic Cancer Panel, Varies

Evaluating patients with a personal or family history suggestive of a hereditary pancreatic cancer syndrome Establishing a diagnosis of a hereditary pancreatic cancer syndrome, allowing for targeted cancer surveillance based on associated...

TBBS - Overview: Quantitative Lymphocyte Subsets: T, B, and Natural Killer (NK) Cells, Blood

Serial monitoring of CD4 T-cell count in patients who are HIV-positive Follow-up and diagnostic evaluation of primary immunodeficiencies, including severe combined immunodeficiency Immune monitoring following immunosuppressive therapy...

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

TYRGP - Overview: Tyrosine Disorders Gene Panel, Varies

Follow up for abnormal biochemical results suggestive of a tyrosine disorder Establishing a molecular diagnosis for patients with tyrosine disorders Identifying variants within genes known to be associated with tyrosine disorders,...

FB12 - Overview: Vitamin B12 and Folate, Serum

Investigation of macrocytic anemia Workup of deficiencies seen in megaloblastic anemias Investigation of suspected folate deficiency Diagnosis of vitamin B12 deficiency-associated neuropathy

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...

AUTOG - Overview: Autoinflammatory Disorders Gene Panel, Varies

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of an inherited autoinflammatory disorder Establishing a diagnosis of a monogenic autoinflammatory disorder, allowing for appropriate...

BLBLF - Overview: B-Cell Lymphoblastic Leukemia/Lymphoma, FISH, Tissue

Detecting, at diagnosis, recurrent common chromosome abnormalities associated with B-cell acute lymphoblastic leukemia/lymphoma (B-ALL/LBL) and Philadelphia chromosome-like acute lymphoblastic leukemia (Ph-like ALL) in paraffin-embedded...

WESPR - Overview: Panel to Whole Exome Sequencing Reflex Test, Varies

Serving as a second-tier test for patients in whom previous genetic testing was negative or inconclusive Identifying causative variants in genes that were not included on panel testing which can allow for: -Better understanding of the...

BMFGP - Overview: Inherited Bone Marrow Failure Gene Panel, Varies

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of a hereditary bone marrow failure syndrome Establishing a diagnosis of a hereditary bone marrow failure syndrome associated with known...

AGAW - Overview: Alpha-Galactosidase, Leukocytes

Diagnosis of Fabry disease in male patients Verifying abnormal serum alpha-galactosidase results in male patients with a clinical presentation suggestive of Fabry disease This test is not useful for patients undergoing a work-up for a...

A1ALC - Overview: Alpha-1-Antitrypsin Proteotype S/Z, LC-MS/MS, Serum

Identification of homozygous and heterozygous S and Z proteotypes of alpha-1-antitrypsin deficiency

HCCAD - Overview: Hepatitis C Virus Antibody Screen, Cadaveric or Hemolyzed Specimens, Asymptomatic, Serum

Screening cadaveric or hemolyzed serum specimens for hepatitis C virus (HCV) infection in asymptomatic individuals with or without risk factors for HCV infection Note: In accordance with National Coverage Determination guidance, this test...

P53CA - Overview: Hematologic Neoplasms, TP53 Somatic Mutation, DNA Sequencing Exons 4-9, Varies

Evaluating chronic lymphocytic leukemia patients at diagnosis or during disease course for the presence of TP53 gene variants indicating high risk of disease progression and adverse outcomes This test is not intended for the evaluation of...

EPCRB - Overview: Ehrlichia/Anaplasma, Molecular Detection, PCR, Blood

Evaluating patients suspected of acute anaplasmosis or ehrlichiosis This test should not be used for screening asymptomatic individuals.

GPSY - Overview: Glucopsychosine, Blood Spot

Second-tier test when newborn screening results with reduced beta-glucosidase (GBA) activity are identified Diagnosis and monitoring of patients with Gaucher disease using dried blood spot specimens Monitoring a patient's response to...

GCTF - Overview: Germ Cell Tumor (GCT), Isochromosome 12p, FISH, Tissue

Supporting the diagnosis of germ cell tumors when used conjunction with an anatomic pathology consultation

COMTQ - Overview: Catechol-O-Methyltransferase (COMT) Genotype, Varies

Prediction of response to nicotine replacement therapy for smoking cessation Investigation of inhibitor dosing for decreasing levodopa metabolism Research use for assessing estrogen metabolism

CPR - Overview: C-Peptide, Serum

Diagnostic workup of hypoglycemia: -Diagnosis of factitious hypoglycemia due to surreptitious administration of insulin -Evaluation of possible insulinoma -Surrogate measure for the absence or presence of physiological suppressibility of...

METRN - Overview: Metanephrines, Fractionated, Random, Urine

A second-order screening test for the presumptive diagnosis of pheochromocytoma in patients with non-episodic hypertension Confirming positive plasma metanephrine results in patients with non-episodic hypertension

NR4A3 - Overview: NR4A3 (9q22.33) Rearrangement, FISH, Tissue

Identifying NR4A3 gene rearrangements Supporting the diagnosis of extraskeletal myxoid chondrosarcoma or acinic cell carcinoma when used in conjunction with an anatomic pathology consultation

TMSI - Overview: Microsatellite Instability, Tumor

Evaluation of tumor tissue to identify patients at high risk for having Lynch syndrome, also known as hereditary nonpolyposis colorectal cancer Evaluation of tumor tissue for clinical decision-making purposes given the prognostic and...

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.

RRPRS - Overview: Rapid Plasma Reagin Screen with Reflex to Titer, Serum

Aid for the diagnosis of infection with Treponema pallidum Rapid plasma reagin testing following a positive treponemal antibody test This test is not useful as a screening or confirmatory test for blood donor specimens.

SCAP - Overview: Spinocerebellar Ataxia Repeat Expansion Panel, Varies

Molecular confirmation of clinically suspected spinocerebellar ataxia when a specific subtype isn't suspected