HPWET - Overview: Hematopathology Consultation, MCL Embed

Obtaining a rapid, expert opinion for diagnosis of hematologic and non-hematologic diseases using unprocessed bone marrow biopsy specimens referred by the primary pathologist Obtaining special studies that are not available locally

NONCM - Overview: Neuro-Oncology Gene Panel, Mutations Only, Tumor

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

PDETS - Overview: Phosphodiesterase 10A (PDE10A) IgG, Tissue Immunofluorescence Titer, Serum

Reporting an end titer result from phosphodiesterase 10A (PDE10A) in serum specimens Evaluation of autoimmune/paraneoplastic neurological syndromes among patients presenting with movement disorders and encephalopathy

PARVN - Overview: Parvovirus B19 Antibody, Technical Interpretation

Interpretation of serologic testing for recent or past parvovirus B19 infection This test is not useful as a screening procedure for the general population

CSPMM - Overview: Plasma Cell Myeloma Pre-Analysis Cell Sorting, Bone Marrow

Pre-analysis cell sorting for the MayoComplete Plasma Cell Myeloma panel

SUBIF - Overview: Immunoglobulin G (IgG) Subtypes Immunofluorescence, Tissue

Determining the subclass of IgG antibody found in renal immunofluorescent panel and determining if the deposits are monoclonal or monotypic

HPVHL - Overview: Human Papillomavirus (HPV) High/Low Risk, In Situ Hybridization

Detecting human papillomavirus for both low-risk (6, 11) and high-risk (16, 18, 26, 31, 33, 35, 39, 45, 51, 52, 53, 56, 58, 59, 66, 68, 73, and 82.) genotypes

5BETH - Overview: Factor V Bethesda Units, Plasma

Detecting and quantifying the presence and titer of a specific factor inhibitor directed against coagulation factor V

EHOLG - Overview: Entamoeba histolytica Antibody, Serum

As an adjunct in the diagnosis of extraintestinal, invasive amebiasis

AADAM - Overview: ADAMTS13 Profile Interpretation

Technical interpretation of a profile to assist with the diagnosis of congenital, immune, or acquired thrombotic thrombocytopenic purpura including inhibitor studies

TLBLF - Overview: T-Lymphoblastic Leukemia/Lymphoma, FISH, Tissue

Detecting recurrent common chromosome abnormalities associated with T-cell acute lymphoblastic leukemia/lymphoma (T-ALL) using client specified probes Identifying and tracking known chromosome abnormalities in patients with T-ALL and...

PRKSG - Overview: PRKAR1A Full Gene Sequencing with Deletion/Duplication, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of Carney Complex (CNC) or acrodysostosis-1 with hormone resistance Establishing a diagnosis of CNC or acrodysostosis-1 with hormone resistance

SUP24 - Overview: Supersaturation Profile, 24 Hour, Urine

Diagnosis and management of patients with renal lithiasis: -Predicting the likely composition of the stone, in patients who have a radiopaque stone, for whom stone analysis is not available -May aid in designing a treatment program...

HYPBG - Overview: Hypobetalipoproteinemia Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of familial hypobetalipoproteinemia

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,...

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...

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

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...

COGTF - Overview: T-Cell Acute Lymphoblastic Leukemia/Lymphoma (ALL), Children's Oncology Group Enrollment Testing, FISH, Varies

Evaluation of pediatric bone marrow and peripheral blood specimens by fluorescence in situ hybridization probe analysis for classic rearrangements and chromosomal copy number changes associated with T-cell acute lymphoblastic leukemia in...

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...

XALDZ - Overview: X-Linked Adrenoleukodystrophy, Full Gene Analysis, Varies

Confirming a diagnosis of X-linked adrenoleukodystrophy Identifying a variant in the ABCD1 gene

POLET - Overview: POLE Mutation Analysis, Next-Generation Sequencing, Tumor

Identifying specific mutations within the POLE gene to assist in tumor diagnosis/classification

GAAZ - Overview: Pompe Disease, Full Gene Analysis, Varies

Confirmation of diagnosis of Pompe disease (as a follow-up to biochemical analyses)

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...

IDTRT - Overview: IDH1, IDH2, and TERT Mutation Analysis, Next-Generation Sequencing, Tumor

Identifying specific mutations within the IDH1 and IDH2 genes and the TERT promoter to assist in tumor diagnosis/classification

FABRZ - Overview: Fabry Disease, Full Gene Analysis, Varies

Confirmation of a diagnosis of classic or variant Fabry disease in affected males with reduced alpha- galactosidase A enzyme activity Carrier or diagnostic testing for asymptomatic or symptomatic females, respectively

TFE3F - Overview: Alveolar Soft Part Sarcoma (ASPS)/Renal Cell Carcinoma (RCC), Xp11.23 (TFE3), FISH, Tissue

An aid in the diagnosis of alveolar soft-part sarcoma or renal cell carcinoma variant when used in conjunction with an anatomic pathology consultation

BRCAT - Overview: BRCA1/2 Mutation Analysis, Next-Generation Sequencing, Tumor

Identifying specific mutations within the BRCA1 and BRCA2 genes known to be associated with response to PARP inhibitors and sensitivity to platinum-based therapy This test is not intended for the evaluation of patients suspected of having...

BAKDM - Overview: BCR/ABL1, Tyrosine Kinase Inhibitor Resistance, Kinase Domain Mutation Screen, Sanger Sequencing, Varies

Evaluating patients with chronic myelogenous leukemia and Philadelphia chromosome positive B-cell acute lymphoblastic leukemia receiving tyrosine kinase inhibitor (TKI) therapy, who are apparently failing treatment Preferred initial test...

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

OXYBS - Overview: Oxysterols, Blood Spot

Investigating a possible diagnosis of Niemann-Pick disease types A, B, or C using blood spot specimens Monitoring of individuals with Niemann-Pick disease type C This test is not useful for the identification of carriers.

SDHMP - Overview: SDH Genes Mutation Analysis, Next-Generation Sequencing, Tumor

Identifying specific mutations within the SDHA, SDHB, SDHC, and SDHD genes to assist in tumor diagnosis/classification, including pheochromocytoma/paraganglioma, renal cell carcinoma, and pituitary adenoma

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

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

PC1TS - Overview: Purkinje Cell Cytoplasmic Antibody Type 1 (PCA-1) Titer, Serum

Identifying female patients whose subacute cerebellar degeneration or peripheral neuropathy is due to a remote (autoimmune) effect of gynecologic or breast carcinoma Reporting an end titer result from serum specimens

PKUBS - Overview: Phenylalanine and Tyrosine, Blood Spot

Monitoring effectiveness of therapy in patients with hyperphenylalaninemia This test is not sufficient for follow-up for abnormal newborn screening results or for establishing a diagnosis of a specific cause of hyperphenylalaninemia

PKUSC - Overview: Phenylalanine and Tyrosine, Self-Collect, Blood Spot

Monitoring effectiveness of therapy in patients with hyperphenylalaninemia in a patient-collected specimen This test is not sufficient for follow-up for abnormal newborn screening results or for establishing a diagnosis of a specific...

TGQN - Overview: Thyroglobulin, Tumor Marker, Serum

Quantitative thyroglobulin measurement as a part of evaluating suspected interference from heterophile antibodies causing a falsely elevated thyroglobulin result

WNVUR - Overview: West Nile Virus, RNA, PCR, Molecular Detection, Random, Urine

Rapid testing for West Nile virus (WNV) RNA (lineage 1 and lineage 2) An adjunctive test to serology for detection of early WNV infection (ie, first few days after symptom onset), with urine specimens potentially retaining WNV RNA longer...

DHVD - Overview: 1,25-Dihydroxyvitamin D, Serum

As a second-order test in the assessment of vitamin D status, especially in patients with renal disease Investigation of some patients with clinical evidence of vitamin D deficiency (eg, vitamin D-dependent rickets due to hereditary...

PLFA - Overview: Cryptococcus Antigen Screen, Lateral Flow Assay, Pleural Fluid

Diagnosis of infection with Cryptococcus species

RNP - Overview: RNP Antibodies, IgG, Serum

Evaluating patients with signs and symptoms of a connective tissue disease in whom the test for antinuclear antibodies is positive Testing for ribonucleoprotein particle antibodies is not useful in patients without demonstrable...

TYRSC - Overview: Tyrosinemia Follow-Up Panel, Self-Collect, Blood Spot

Monitoring of individuals with tyrosinemia type I (hepatorenal tyrosinemia) using a patient-collected specimen

LKM - Overview: Liver/Kidney Microsome Type 1 Antibodies, Serum

Evaluation of patients with liver disease of unknown etiology Evaluation of patients with suspected autoimmune hepatitis

LDBF - Overview: Lactate Dehydrogenase (LDH), Body Fluid

Identification of exudative pleural effusions Lactate dehydrogenase in pericardial fluids is not diagnostically useful.

IBDP2 - Overview: Inflammatory Bowel Disease Serology Panel, Serum

Distinguishing between ulcerative colitis and Crohn disease in patients for whom the specific diagnosis is unclear based on endoscopic, pathologic, and imaging evaluations This test is not useful for determining the extent of disease in...

IFBA - Overview: Intrinsic Factor Blocking Antibody, Serum

Confirming the diagnosis of pernicious anemia

KRASP - Overview: KRAS Somatic Mutation Analysis, Tumor

Detecting molecular markers associated with response or resistance to specific cancer

LPALD - Overview: Lipoprotein (a) and Low-Density Lipoprotein Cholesterol, Serum

Evaluation of the contribution of lipoprotein (a) (Lp[a])-cholesterol within measured low-density lipoprotein cholesterol Evaluation of increased risk for cardiovascular disease and events: -Most appropriately measured in individuals at...

LYME - Overview: Lyme Disease Serology, Serum

Diagnosing Lyme disease This test should not be used as a screening procedure for the general population. This test should not be used for treatment monitoring.