PSY - Overview: Psychosine, Blood Spot

Aids in the biochemical detection of Krabbe disease and saposin A cofactor deficiency Second-tier testing or follow up testing after an abnormal newborn screening result in an infant for Krabbe disease This test is not capable of...

UNIPD - Overview: Uniparental Disomy, Varies

Evaluation of patients presenting with mosaicism, confined placental mosaicism, or Robertsonian translocations Evaluation of patients presenting with features of disorders known to be associated with uniparental disomy (eg, Russell-Silver...

GAST - Overview: Gastrin, Serum

Investigation of patients with achlorhydria or pernicious anemia Investigation of patients suspected of having Zollinger-Ellison syndrome Diagnosis of gastrinoma

HISGT - Overview: Histone Genes Mutation Analysis, Next-Generation Sequencing, Tumor

Identifying specific mutations within the H3-3A, H3-3B, H3C2, H3C3 and H3C14 genes that assist in tumor diagnosis/classification

MUGS - Overview: Hexosaminidase A, Serum

Second-order test for diagnosing the B1 variant of Tay-Sachs disease This test is not useful for testing for Sandhoff disease.

F81P - Overview: Hemophilia A F8 Gene, Intron 1 Inversion Known Mutation Analysis, Prenatal

Prenatal testing for hemophilia A when a F8 intron 1 inversion has been identified in a family member

SPBX - Overview: Epidermal Nerve Fiber Density Consultation, Varies

Investigating polyneuropathies

INTAD - Overview: Adalimumab Panel, Interpretation

Interpretation of therapeutic drug monitoring of adalimumab concentration and antibody levels

ASPBA - Overview: Aspergillus Antigen, Bronchoalveolar Lavage

Aiding in the diagnosis of invasive aspergillosis using bronchoalveolar lavage specimens Assessing response to therapy

MAFP1 - Overview: Alpha-Fetoprotein (AFP), Single Marker Screen, Maternal, Serum

Prenatal screening for open neural tube defect

BCRFX - Overview: BCR/ABL1 Qualitative Diagnostic Assay with Reflex to BCR/ABL1 p190 Quantitative Assay or BCR/ABL1 p210 Quantitative Assay, Varies

Diagnostic workup of patients with high probability of BCR::ABL1-positive hematopoietic neoplasms, predominantly chronic myeloid/myelogenous leukemia and acute lymphoblastic leukemia

BHCG - Overview: Beta-Human Chorionic Gonadotropin, Quantitative, Serum

Monitoring patients for retained products of conception Aiding in the diagnosis of gestational trophoblastic disease (GTD), testicular tumors, ovarian germ cell tumors, teratomas, and, rarely, other human chorionic gonadotropin...

MPNR - Overview: Myeloproliferative Neoplasm, JAK2 V617F with Reflex to CALR and MPL, Varies

Aiding in the distinction between a reactive cytosis and a chronic myeloproliferative disorder Evaluating for variants in JAK2, CALR, and MPL genes in an algorithmic process

SZDIA - Overview: Sezary Diagnostic Flow Cytometry, Blood

Identifying immunophenotypically aberrant T-cell populations with restricted expression of T-cell receptor beta-chain constant in peripheral blood, to roughly assess the circulating tumor burden in cutaneous T-cell lymphomas

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...

CHRAF - Overview: Chromosome Analysis, Amniotic Fluid

Prenatal diagnosis of chromosome abnormalities, including aneuploidy (ie, trisomy or monosomy) and balanced rearrangements

ACARP - Overview: Acanthamoeba species Molecular Detection, PCR, Ocular

Aids in the diagnosis of amebic keratitis in conjunction with clinical findings

AMYR - Overview: Beta-Amyloid Ratio (1-42/1-40), Spinal Fluid

Assisting in the evaluation of adult patients, aged 55 years and older, presenting with cognitive impairment and are being assessed for Alzheimer disease and other causes of cognitive decline This test is not intended as a screening or...

HIAA - Overview: 5-Hydroxyindoleacetic Acid, 24 Hour, Urine

Biochemical diagnosis and monitoring of intestinal carcinoid syndrome using 24-hour urine specimens

25HDN - Overview: 25-Hydroxyvitamin D2 and D3, Serum

Diagnosis of vitamin D deficiency Differential diagnosis of causes of rickets and osteomalacia Monitoring vitamin D replacement therapy Diagnosis of hypervitaminosis D

PMARG - Overview: Postmortem Arrhythmia Gene Panel, Tissue

Providing a comprehensive postmortem genetic evaluation in the setting of a sudden death suspicious for cardiac arrhythmia or with a personal or family history suggestive of a hereditary form of cardiac arrhythmia Identifying a...

META3 - Overview: Metanephrines with 3-Methoxytyramine, 24 Hour, Urine

A first- and second-tier screening test for the presumptive diagnosis of catecholamine-secreting pheochromocytomas and paragangliomas

RETB - Overview: Reticulocyte Profile, Blood

Assessing erythropoietic bone marrow activity in anemia and other hematologic conditions Assessment of acute iron deficiency Monitoring early response to iron therapy or erythropoiesis-stimulating agents Early monitoring of therapy for...

HCYSS - Overview: Homocysteine, Total, Serum

An aid for screening patients suspected of having an inherited disorder of methionine metabolism including: -Cystathionine beta-synthase deficiency (homocystinuria) -Methylenetetrahydrofolate reductase deficiency and its thermolabile...

HCYSP - Overview: Homocysteine, Total, Plasma

An aid for screening patients suspected of having an inherited disorder of methionine metabolism including: -Cystathionine beta-synthase deficiency (homocystinuria) -Methylenetetrahydrofolate reductase deficiency and its thermolabile...

CDHZ - Overview: Hereditary Diffuse Gastric Cancer Syndrome, CDH1, Full Gene Analysis, Varies

Evaluating patients with a personal or family history suggestive of hereditary diffuse gastric cancer (HDGC) syndrome Establishing a diagnosis of HDGC syndrome allowing for targeted cancer surveillance based on associated risks...

PGXQP - Overview: Focused Pharmacogenomics Panel, Varies

Preemptive or reactive genotyping of patients for pharmacogenomic purposes Providing an assessment for genes with strong drug-gene associations

PM3CX - Overview: Lymph3Cx Assay, Primary Mediastinal Large B-cell Lymphoma and Diffuse Large B-cell Lymphoma, mRNA Gene Expression, NanoString, Tissue

Only indicated for formalin-fixed paraffin-embedded specimens from patients diagnosed with large B-cell lymphoma

NGBCL - Overview: MayoComplete B-Cell Lymphoma, Next-Generation Sequencing, Varies

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

NGCLN - Overview: MayoComplete Chronic Lymphoid Neoplasms, Next-Generation Sequencing, Varies

Aiding in establishing diagnosis, refining prognosis, and potentially identifying targeted therapies for the optimal management of patients with chronic or low-grade B-cell lymphoid neoplasms

AGABS - Overview: Alpha-Galactosidase, Blood Spot

Diagnosis of Fabry disease in male patients using blood spot specimens Verifying abnormal serum alpha-galactosidase results in male patients with a clinical presentation suggestive of Fabry disease Follow-up to an abnormal newborn screen...

SQTSG - Overview: Short QT Syndrome Gene Panel, Varies

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

NFLP - Overview: Neurofilament Light Chain, Plasma

Assessing neuronal damage related to various neurodegenerative diseases

DHES1 - Overview: Dehydroepiandrosterone Sulfate, Serum

Diagnosis and differential diagnosis of hyperandrogenism (in conjunction with measurements of other sex steroids) An adjunct in the diagnosis of congenital adrenal hyperplasia Diagnosis and differential diagnosis of premature adrenarche

ADALX - Overview: Adalimumab Quantitative with Reflex to Antibody, Serum

Therapeutic drug monitoring of adalimumab concentration and antibody levels, if appropriate

INFXR - Overview: Infliximab Quantitation with Reflex to Antibodies to Infliximab, Serum

Trough level quantitation for evaluation of patients undergoing therapy with infliximab, with signs and symptoms of loss of response to therapy.

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...

G6PDC - Overview: Glucose 6 Phosphate Dehydrogenase Enzyme Activity, Blood

Evaluation of individuals with episodic or chronic Coombs-negative nonspherocytic hemolytic anemia Rapid testing to assess glucose-6-phosphate dehydrogenase (G6PD) enzyme capacity prior to rasburicase or other therapies that may cause...

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.

PMCAG - Overview: Postmortem Cardiomyopathy and Arrhythmia Gene Panel, Tissue

Providing a comprehensive postmortem genetic evaluation in the setting of a sudden death attributed to cardiomyopathy or suspicious for cardiac arrhythmia or with a personal or family history suggestive of a hereditary form of...

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...

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...

PMCMG - Overview: Postmortem Cardiomyopathy Gene Panel, Tissue

Providing a comprehensive postmortem genetic evaluation in the setting of a sudden death attributed to cardiomyopathy or with a personal or family history suggestive of a hereditary form of cardiomyopathy Identifying a disease-causing...

UGTFZ - Overview: UDP-Glucuronosyltransferase 1A1 (UGT1A1), Full Gene Sequencing, Varies

Establishing a diagnosis of Crigler-Najjar syndrome type I or type II and the trait of Gilbert syndrome Establishing carrier status for Crigler-Najjar syndrome type I or type II Identifying individuals who are at risk of...

TTST - Overview: Testosterone, Total, Mass Spectrometry, Serum

Evaluating men with symptoms or signs of possible hypogonadism, such as loss of libido, erectile dysfunction, gynecomastia, osteoporosis, or infertility Evaluating boys with delayed or precocious puberty Monitoring testosterone...

TCRB - Overview: T-Cell Receptor V-Beta Repertoire Analysis, Spectratyping, Blood

Assessment of T-cell receptor diversity in various clinical contexts including inborn errors of immunity (formerly primary immunodeficiencies), monitoring immune reconstitution post-hematopoietic stem cell transplantation, and temporal...

NUTHX - Overview: Hazelnut-Food Components, IgE, Serum

Evaluation of patients with suspected hazelnut-food allergy to one of 4 hazelnut-food components

NUTHR - Overview: Hazelnut-Food, IgE with Reflex to Hazelnut-Food Components, IgE, Serum

Evaluation of patients with suspected hazelnut-food allergy

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

FIBRO - Overview: FibroTest-ActiTest, Serum

Evaluating hepatic fibrosis in chronic hepatitis C patients Diagnosing fibrosis in carriers of chronic hepatitis B virus Evaluating hepatic fibrosis in co-infected HIV carriers Providing access to new-generation non-interferon...