Test Catalog Search Results

SCCNP - Overview: Severe Congenital and Cyclic Neutropenia Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of severe congenital neutropenia and/or cyclic neutropenia Establishing a diagnosis of an inherited congenital neutropenia and, in some cases,...

AD2AR - Overview: PrecivityAD2, Reflex to Apolipoprotein E, Plasma

Assisting in the evaluation of adult patients, aged 50 years and older, with signs or symptoms of mild cognitive impairment or dementia who are being assessed for Alzheimer disease and other causes of cognitive decline Determining APOE E4...

GNBLC - Overview: Bleeding Disorders, Comprehensive Gene Panel, Next-Generation Sequencing, Varies

Evaluating hereditary bleeding in patients with a personal or family history suggestive of a hereditary bleeding disorder Confirming a hereditary bleeding disorder diagnosis with the identification of a known or suspected disease-causing...

ADMI - Overview: ADAMTS13 Interpretation

Technical interpretation of testing performed to assist in the diagnosis of congenital, immune, or acquired thrombotic thrombocytopenic purpura

RAT10 - Overview: Citrate/Creatinine Ratio, Urine

Calculating the citrate concentration per creatinine Diagnosing risk factors for patients with calcium kidney stones Monitoring results of therapy in patients with calcium stones or renal tubular acidosis

RUFI - Overview: Rufinamide, Serum

Monitoring serum rufinamide concentrations, assessing compliance, and adjusting dosage in patients receiving other drugs that interact pharmacokinetically with rufinamide (ie, drugs that induce liver CYP3A4 enzymes) and may be helpful in...

THEV0 - Overview: Thalassemia Summary Interpretation, Blood

Incorporating and summarizing subsequent molecular results into an overall interpretation for the THEV1 / Thalassemia and Hemoglobinopathy Evaluation, Blood and Serum

EOIBD - Overview: Early Onset Monogenic Inflammatory Bowel Disease (IBD) Gene Panel, Varies

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of an inherited inflammatory bowel disorder Establishing a diagnosis of a monogenic early onset inflammatory bowel disease, allowing...

CRHEP - Overview: Chronic Viral Hepatitis (Unknown Type), Serum

Diagnosis and evaluation of patients with symptoms of hepatitis lasting more than 6 months Distinguishing between chronic hepatitis B and C

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.

CFSMN - Overview: Cystic Fibrosis and Spinal Muscular Atrophy Carrier Screen Panel, Varies

Reproductive risk refinement via carrier screening for individuals in the general population for cystic fibrosis (CF) and spinal muscular atrophy (SMA). Reproductive risk refinement via carrier screening for individuals with a family...

NHHA - Overview: Hereditary Hemolytic Anemia Gene Panel, Next-Generation Sequencing, Varies

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of hereditary hemolytic anemias, including red blood cell (RBC) membrane/hydration disorders, RBC enzymopathies, and congenital...

MSUDP - Overview: Maple Syrup Urine Disease Gene Panel, Varies

Follow up for abnormal biochemical results suggestive of maple syrup urine disease (MSUD) Establishing a molecular diagnosis for patients with MSUD Identifying variants within genes known to be associated with MSUD, allowing for...

MCSRC - Overview: MayoComplete Comprehensive Sarcoma Panel, Next-Generation Sequencing, Tumor

Primarily for identifying mutations/gene fusions that help in the diagnosis of specific soft tissue and bone tumors (sarcoma) Secondarily for identifying mutations/gene fusions that have therapeutic or prognostic significance

NONCP - Overview: Neuro-Oncology Expanded Gene Panel with Rearrangement, Tumor

Identifying mutations and rearrangements that may support a diagnosis or help determine prognosis for patients with central nervous system tumors Identifying specific mutations and rearrangements within genes known to be associated with...

NAIFA - Overview: Antinuclear Antibodies, HEp-2 Substrate, IgG, Serum

Evaluation of patients suspected of having systemic autoimmune rheumatic disease (ANA-associated rheumatic diseases or connective tissue disease) or organ-specific autoimmune diseases such as autoimmune liver diseases

INHB - Overview: Inhibin B, Serum

Aiding in the diagnosis of granulosa cell tumors and mucinous epithelial ovarian tumors Monitoring of patients with granulosa cell tumors and epithelial mucinous-type tumors of the ovary known to overexpress inhibin B As an adjunct to...

HSVPV - Overview: Herpes Simplex Virus (HSV), Molecular Detection, PCR, Varies

Aiding in the rapid diagnosis of herpes simplex virus (HSV) infections, including qualitative detection of HSV DNA in nonblood clinical specimens This test should not be used to screen asymptomatic patients.

HGEM - Overview: Hydroxyglutaric Acids, Glutaric Acid, Ethylmalonic Acid, and Methylsuccinic Acid, Blood Spot

Evaluation of patients with an abnormal newborn screen showing elevations of glutarylcarnitine (C5-DC) using dried blood spot specimens Evaluation of patients with abnormal newborn screens showing elevations of C4-acylcarnitine to aid in...

NAT2Q - Overview: N-Acetyltransferase 2 (NAT2) Genotype, Varies

Identifying patients who may be at risk for altered metabolism of drugs that are substrates of arylamine N-acetyltransferase type 2, including isoniazid

FGF1F - Overview: FGFR1 (8p11.2) Amplification, FISH, Tissue

Providing prognostic information and guiding treatment primarily for patients with squamous cell carcinoma of the lung, breast, esophagus, thymus, and other locations

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

TLYME - Overview: Lyme IgM and IgG, Whole Cell Sonicate, ELISA, Serum

Supplemental testing for samples with positive or equivocal first-tier test results for antibodies to Lyme disease causing Borrelia species This test should not be used as a screening procedure for the general population.

MPNCM - Overview: Myeloproliferative Neoplasm, CALR with Reflex to MPL, Varies

Aiding in the distinction between a reactive cytosis and a myeloproliferative neoplasm when JAK2V617F testing result is negative

MAMLF - Overview: MAML2 (11q21) Rearrangement, Mucoepidermoid Carcinoma (MEC), FISH, Tissue

Supporting the diagnosis of mucoepidermoid carcinoma when used in conjunction with an anatomic pathology consultation

UBA1Q - Overview: UBA1 Mutation Quantitative Detection, VEXAS syndrome, Droplet Digital PCR, Varies

Identification of pathogenic variant(s) in the UBA1 gene in patients presenting with symptoms concerning for or consistent with VEXAS syndrome

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

LBCS - Overview: Labile Bound Copper, Serum

May be useful in the evaluation of copper-related disorders, including Wilson disease

2C9QT - Overview: Cytochrome P450 2C9 Genotype, Varies

Identifying individuals who may be at risk for altered metabolism of drugs that are modified by cytochrome P450 2C9