IEICP - Overview: Inborn Errors of Immunity Comprehensive Gene Panel, Varies

Providing a comprehensive genetic evaluation for patients with a personal history of an inborn error of immunity (IEI) Establishing a diagnosis of an IEI associated with known causal genes Identifying variants within genes known to be...

FIFLC - Overview: Immunofixation with Free Light Chains, Quantitative, Urine

Immunofixation with Free Light Chains, Quantitative, Urine

FRIFA - Overview: Rifampin Level (PKRIF)

Rifampin Level (PKRIF)

NBILI - Overview: Neonatal Bilirubin, Serum

Assessing liver function Evaluating a wide range of diseases affecting the production, uptake, storage, metabolism, or excretion of bilirubin Monitoring the efficacy of neonatal phototherapy

PRL - Overview: Prolactin, Serum

Aiding in evaluation of pituitary tumors, amenorrhea, galactorrhea, infertility, and hypogonadism Monitoring therapy of prolactin-producing tumors

TCGR - Overview: T-Cell Receptor Gene Rearrangement, PCR, Blood

Determining whether a T-cell population is polyclonal or monoclonal using blood specimens

MRDMR - Overview: Multiple Myeloma Measurable Residual Disease (MRD) by Flow Cytometry, Bone Marrow

Detecting low level (measurable residual disease) myeloma cells after therapy to confirm remission has been achieved

DRPL - Overview: Dentatorubral-Pallidoluysian Atrophy (DRPLA) Gene Analysis, Varies

Confirming the diagnosis of dentatorubral-pallidoluysian atrophy (DRPLA) for symptomatic patients Predictive testing for individuals with a family history of DRPLA and a documented expansion in the ATN1 gene in an affected family member

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...

HSMBS - Overview: Hepatosplenomegaly Panel, Blood Spot

As a component of the initial evaluation of a patient presenting with hepatosplenomegaly, using dried blood spot specimens This test is not useful for the identification of carriers. This test should not be used as a monitoring tool for...

THSCM - Overview: Thyroid Function Cascade, Serum

Screening for a diagnosis of thyroid disease

APOL1 - Overview: APOL1 Genotype, Varies

Determining an individual's APOL1 genotype This test is not useful for clinical management of individuals with APOL1 risk genotypes. This test alone is not useful for determining eligibility for donation or receipt of kidney...

CMAPC - Overview: Chromosomal Microarray, Autopsy, Products of Conception, or Stillbirth

Prenatal diagnosis of copy number changes (gains or losses) across the entire genome Diagnosing chromosomal causes for fetal death Determining recurrence risk of future pregnancy losses Determining the size, precise breakpoints, gene...

E1 - Overview: Estrone, Serum

As part of the diagnosis and workup of precocious and delayed puberty in females and, to a lesser degree, males As part of the diagnosis and workup of suspected disorders of sex steroid metabolism (eg, aromatase deficiency and 17...

HBOCZ - Overview: BRCA1/BRCA2 Genes, Full Gene Analysis, Varies

Evaluating patients with a personal or family history suggestive of hereditary breast and ovarian cancer (HBOC) syndrome Establishing a diagnosis of HBOC syndrome allowing for targeted cancer surveillance based on associated risks...

AFXN - Overview: Friedreich Ataxia, Repeat Expansion Analysis, Varies

Molecular confirmation of clinically suspected Friedreich ataxia

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...

PCDGG - Overview: Primary Ciliary Dyskinesia Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of primary ciliary dyskinesia Establishing a diagnosis of primary ciliary dyskinesia

TTRZ - Overview: TTR Gene, Full Gene Analysis, Varies

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

GID2 - Overview: Gastrointestinal Dysmotility, Autoimmune/Paraneoplastic Evaluation, Serum

Investigating unexplained weight loss, early satiety, anorexia, nausea, vomiting, constipation, or diarrhea in a patient with a past or family history of cancer or autoimmunity Directing a focused search for cancer Investigating...

HPANP - Overview: Hereditary Pancreatitis Gene Panel, Varies

Confirming a suspected clinical diagnosis of familial or hereditary pancreatitis in patients with chronic pancreatitis Identifying gene variants contributing to pancreatitis in an individual or family Identifying gene variants to allow...

ALBSF - Overview: Albumin, Spinal Fluid

Assessment of blood-brain barrier permeability

CXLPL - Overview: CXCR4 Mutation Analysis, Somatic, Lymphoplasmacytic Lymphoma/Waldenstrom Macroglobulinemia, Varies

Aiding in the prognosis and clinical management of lymphoplasmacytic lymphoma/Waldenstrom macroglobulinemia

NPM1Q - Overview: Nucleophosmin (NPM1) Mutation Analysis, Varies

As a prognostic indicator in patients with newly diagnosed acute myelogenous leukemia with normal karyotype and no FLT3 variant and as a leukemia-specific marker of minimal residual disease

TALDO - Overview: Polyols, Quantitative, Urine

Diagnosing deficiencies of transaldolase, transketolase, sedoheptulose, or ribose-5-phosphate isomerase

EWSF - Overview: Ewing Sarcoma, 22q12 (EWSR1) Rearrangement, FISH, Tissue

Detection of EWSR1 rearrangements irrespective of the EWSR1 fusion partner gene Supporting the diagnosis of many neoplasms including, but not limited to, Ewing sarcoma, extraskeletal myxoid chondrosarcoma, desmoplastic small round cell...

B12 - Overview: Vitamin B12 Assay, Serum

Investigation of macrocytic anemia Workup of deficiencies seen in megaloblastic anemias

BCELL - Overview: B-Cell and Antibody Deficiency Gene Panel, Varies

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of an inherited primary B-cell disorder or humoral immunodeficiency Establishing a diagnosis of a primary B-cell disorder or humoral...

THEVI - Overview: Hemoglobinopathy Interpretation

Interpretation of results for the evaluation of thalassemias and hemoglobinopathies Evaluation of microcytosis Extensive and economical diagnosis and classification of hemoglobinopathies or thalassemia including complex...

PHOS - Overview: Phosphorus (Inorganic), Serum

Diagnosis and management of a variety of disorders including bone, parathyroid, and kidney disease

CA - Overview: Calcium, Total, Serum

Diagnosis and monitoring of a wide range of disorders including diseases of bone, kidney, parathyroid gland, or gastrointestinal tract

LPSBF - Overview: Lipase, Body Fluid

Determining whether pancreatic inflammation or pancreatic fistula may be contributing to a pathological accumulation of fluid

FRT4 - Overview: T4 (Thyroxine), Free, Serum

Evaluating suspected thyroid function disorders using free thyroxine measured together with thyroid-stimulating hormone

TRYPA - Overview: Tryptase, Autopsy, Serum

Evaluation of autopsy cases in which anaphylaxis in the context of allergen exposure or mast cell activation is a suspected cause of death

TLUCR - Overview: Thallium/Creatinine Ratio, Random, Urine

Detecting toxic thallium exposure in random urine specimen

INS - Overview: Insulin, Serum

Diagnosing insulinoma, when used in conjunction with proinsulin and C-peptide measurements Management of diabetes mellitus

MNRCU - Overview: Manganese/Creatinine Ratio, Random, Urine

Monitoring manganese exposure using random urine specimens Nutritional monitoring Clinical trials

PANGP - Overview: Expanded Pancreatitis Gene Panel, Varies

Confirmation of suspected clinical diagnosis of familial or hereditary pancreatitis in patients with chronic pancreatitis Identification of gene variants contributing to pancreatitis in an individual or family Identification of gene...

AHEP - Overview: Acute Viral Hepatitis Profile, Serum

Differential diagnosis of recent acute viral hepatitis

BRTP - Overview: Rapid Hereditary Breast Cancer Treatment Decision Panel, Varies

Establishing a diagnosis of a hereditary breast cancer syndrome allowing for surgical and management decision making Determining therapeutic eligibility with poly (adenosine diphosphate-ribose) polymerase inhibitors based on certain gene...

LPMGF - Overview: Lymphocyte Proliferation to Mitogens, Blood

Assessing T-cell function in patients on immunosuppressive therapy, including solid-organ transplant patients Evaluating patients suspected of having impairment in cellular immunity Evaluation of T-cell function in patients with primary...

TCP - Overview: T-Cell Subsets, Naive, Memory, and Activated, Blood

Determining the presence of naive, memory, and activated T cells in various clinical contexts including autoimmune diseases, immunodeficiency states, T-cell recovery post-hematopoietic stem cell transplant, DiGeorge syndrome, and as a...

CSMTU - Overview: Controlled Substance Monitoring Targeted Profile, 17 Drug Classes, Mass Spectrometry, Random, Urine

Detecting drug use involving stimulants, benzodiazepines, and opioids This test is not intended for use in employment-related testing.

CHSBP - Overview: Chronic Hepatitis B Monitoring Profile, Serum

Evaluating and monitoring individuals with known chronic hepatitis B Monitoring hepatitis B viral infectivity after resolution of acute hepatitis B

NAGS - Overview: Hexosaminidase A and Total Hexosaminidase, Serum

Carrier detection and diagnosis of Tay-Sachs disease and Sandhoff disease Ruling out I-cell disease This test is not useful for pregnant females or those treated with hormonal contraception.

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...

PMSBB - Overview: Postmortem Screening, Bile and Blood Spot

Postmortem evaluation of individuals at any age who died suddenly or unexpectedly; testing is particularly recommended under the following circumstances (risk factors): -Family history of sudden infant death syndrome or other sudden...

NGTCL - Overview: MayoComplete T-Cell Lymphoma, Next-Generation Sequencing, Varies

Aiding in establishing diagnosis, refining prognosis, and potentially identifying targeted therapies for the optimal management of patients with T-cell lymphomas

MCLBP - Overview: MayoComplete Liquid Biopsy Panel, Next-Generation Sequencing, Cell-Free DNA

As an alternative to invasive tissue biopsies to assist in tumor profiling for diagnosis, predicting prognosis, and identifying targeted therapies for the treatment and management of patients with solid tumors As an alternative to invasive...

CMAP - Overview: Chromosomal Microarray, Prenatal, Amniotic Fluid/Chorionic Villus Sampling

Prenatal diagnosis of copy number changes (gains or losses) across the entire genome Determining the size, precise breakpoints, gene content, and any unappreciated complexity of abnormalities detected by other methods, such as conventional...