Test Catalog Search Results

MTHX - Overview: Methotrexate, Serum

Determining whether methotrexate is being cleared appropriately and verifying that a nontoxic concentration has been attained following therapy

MMAS - Overview: Methylmalonic Acid, Quantitative, Serum

Evaluating children with signs and symptoms of methylmalonic acidemia using serum specimens Evaluating individuals with signs and symptoms associated with a variety of causes of vitamin B12 (cobalamin) deficiency

MPA - Overview: Mycophenolic Acid, Serum

Monitoring therapy to ensure adequate blood levels and avoid over-immunosuppression

MA2ES - Overview: Ma2 Antibody by ELISA, Serum

Evaluating patients with suspected paraneoplastic encephalitides using serum specimens

OSM24 - Overview: Osmolality, 24 Hour, Urine

Assessing the concentrating and diluting ability of the kidney using a 24-hour urine collection

PFKC - Overview: Phosphofructokinase Enzyme Activity, Blood

Evaluation of individuals with Coombs-negative nonspherocytic hemolytic anemia Evaluation of individuals with exercise intolerance or myopathy Genetic studies in families with phosphofructokinase deficiency

PETH - Overview: Phosphatidylethanol Confirmation, Blood

Verifying abstinence or use of ethanol, especially in liver transplant candidates/patients

PTNT - Overview: Prothrombin G20210A Mutation, Blood

Patients with clinically suspected thrombophilia Determination of the duration of anticoagulation therapy of venous thromboembolism patients Screening for women contemplating hormone therapy

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

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)

TGII - Overview: Thyroglobulin, Interference Interpretation

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

NAU - Overview: Sodium, 24 Hour, Urine

Assessing acid-base balance, water balance, water intoxication, and dehydration

VITA - Overview: Vitamin A, Serum

Diagnosing vitamin A deficiency and toxicity Monitoring vitamin A therapy

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...

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...

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

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

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...

CDKZ - Overview: CDKN1C Gene, Full Gene Analysis, Varies

Confirming a clinical diagnosis of Beckwith-Wiedemann syndrome following a normal result on methylation analysis Confirming a clinical diagnosis of IMAGe (intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia...

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...

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...

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,...

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...

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

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

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...

MCSTP - Overview: MayoComplete Solid Tumor Panel, Next-Generation Sequencing, Tumor

Assisting in tumor profiling for diagnosis, predicting prognosis, and identifying targeted therapies for the treatment and management of patients with solid tumors Identifying somatic alterations including single nucleotide variants, small...

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,...

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

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...

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...

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

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

DHCRZ - Overview: Smith Lemli Opitz Syndrome, DHCR7 Gene, Full Gene Analysis, Varies

Follow up for abnormal biochemical results suggestive of Smith-Lemli-Opitz syndrome Establishing a molecular diagnosis for patients with Smith-Lemli-Opitz syndrome Identifying alterations within DHCR7 allowing for predictive testing of...

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,...