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...

NGSFX - Overview: Reanalysis of Acute Myeloid Leukemia 4- or 11- Gene Panels, Additional Genes

Comprehensive reanalysis of a larger set of genes/gene regions when a more targeted gene panel was previously performed in this laboratory Evaluation of known or suspected hematologic neoplasms, specifically of myeloid origin (eg, acute...

PATHC - Overview: Pathology Consultation

A subspecialty second opinion for a specific pathology question referred by a primary pathologist Note: A consultative opinion is not a full rendering of a primary diagnostic report (eg, multiple parts, margin status, CAP...

PMHLH - Overview: Postmortem Primary Hemophagocytic Lymphohistiocytosis (HLH) Gene Panel, Tissue

Providing a comprehensive postmortem genetic evaluation in the setting of a death attributed to primary hemophagocytic lymphohistiocytosis Identifying a disease-causing variant in the decedent, which may assist with risk assessment and...

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...

EOSMF - Overview: Chronic Eosinophilia, Specified FISH, Varies

Detecting a neoplastic clone associated with the common chromosome abnormalities seen in patients with myeloid/lymphoid neoplasms with eosinophilia and gene rearrangement (including PDGFRA, PDGFRB, FGFR1, JAK2, and ABL1) using specified...

CARBR - Overview: Carbamazepine Hypersensitivity Pharmacogenomics, Varies

Identifying individuals with increased risk of carbamazepine- or oxcarbazepine-associated cutaneous adverse reactions

MGLE - Overview: Myasthenia Gravis/Lambert-Eaton Myasthenic Syndrome Evaluation, Serum

Confirming the autoimmune basis of a defect in neuromuscular transmission (eg, myasthenia gravis [MG], Lambert-Eaton myasthenic syndrome [LEMS]) Distinguishing LEMS from autoimmune forms of MG Providing a quantitative autoantibody...

MGMR - Overview: Myasthenia Gravis Evaluation with Muscle-Specific Kinase (MuSK) Reflex, Serum

Diagnosing autoimmune myasthenia gravis (MG) in adults and children Distinguishing autoimmune from congenital MG in adults and children or other acquired forms of neuromuscular junction transmission disorders Establishing a quantitative...

MPSER - Overview: Mucopolysaccharides Quantitative, Serum

Quantification of dermatan sulfate, heparan sulfate, and keratan sulfate in serum to support the biochemical diagnosis of mucopolysaccharidoses types I, II, III, IV, VI, or VII

MSP3 - Overview: Multiple Sclerosis (MS) Cascade, Serum and Spinal Fluid

Diagnosing multiple sclerosis, especially helpful in patients with equivocal clinical or radiological findings

SOD1Z - Overview: SOD1 Gene, Full Gene Analysis, Varies

Establishing a molecular diagnosis for patients with amyotrophic lateral sclerosis (ALS) Identifying variants within SOD1 known to be associated with ALS, allowing for predictive testing of at-risk family members

HTGR - Overview: Thyroglobulin, Tumor Marker Reflex, Serum

Reporting of accurate thyroglobulin results, depending on the antithyroglobulin antibodies status of the patient Accurate measurement of serum thyroglobulin in patients with known or suspected antithyroglobulin autoantibodies or possible...

SCCA - Overview: Squamous Cell Carcinoma Antigen, Serum

Aiding in the evaluation and monitoring of squamous cell carcinoma of the head and neck, lung, and cervix This test should not be used to screen for carcinoma or other disorders including those of the liver, lung, or skin.

BLWRF - Overview: Walnut-Food, IgE, with Reflex to Walnut-Food Components, IgE, Serum

Evaluation of patients with suspected walnut-food allergy

DOCS - Overview: 11-Deoxycorticosterone, Serum

Diagnosis of suspected 11-hydroxylase deficiency, including the differential diagnosis of 11-beta-hydroxylase 1 (CYP11B1) versus 11-beta-hydroxylase 2 (CYP11B2) deficiency Diagnosis of glucocorticoid-responsive...

KRABZ - Overview: Krabbe Disease, Full Gene Analysis and Large (30 kb) Deletion, Varies

Second-tier test for confirming a diagnosis of Krabbe disease Carrier testing for individuals with a family history of Krabbe disease in the absence of known sequence variants in the family

DMITO - Overview: Mitochondrial DNA Deletion Heteroplasmy, ddPCR, Varies

Assessing the heteroplasmy level of previously detected large mitochondrial DNA (mtDNA) deletions. Screening family members for previously detected large mtDNA deletions. This test is not recommended for first tier diagnostic testing...

HYPTG - Overview: Hypertriglyceridemia Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of hereditary forms of primary hypertriglyceridemia and related conditions.

FBILM - Overview: Biliary Tract Malignancy-Cytology, FISH, Varies

Assessing bile duct brushing or hepatobiliary brushing specimens for bile tract malignancy

ALLOI - Overview: Allo-isoleucine, Blood Spot

Evaluation of newborn screening specimens that test positive for branched-chain amino acids elevations Follow-up of patients with maple syrup urine disease

A1AFS - Overview: Alpha-1-Antitrypsin Clearance, Feces and Serum

Diagnosing protein-losing enteropathies

ARSBW - Overview: Arylsulfatase B, Leukocytes

Supporting the biochemical diagnosis of mucopolysaccharidosis type VI (MPS VI, Maroteaux-Lamy syndrome) in whole blood specimens This test is not useful for carrier detection.

ADAMS - Overview: ADAMTS13 Activity Assay, Plasma

Assisting with the diagnosis and monitoring of congenital, immune, or acquired thrombotic thrombocytopenic purpura

C5OHU - Overview: C5-OH Acylcarnitine, Quantitative, Random, Urine

Evaluation of patients with an abnormal newborn screen showing elevations of 3-hydroxyisovaleryl-/2-methyl-3-hydroxybutyryl-carnitine

HEVML - Overview: Hepatitis E Virus IgM Antibody Confirmation, Serum

Confirmation of reactive hepatitis E virus IgM antibody screening test results for the diagnosis of acute or recent (<6 months) hepatitis E infection

I2SWB - Overview: Iduronate-2-Sulfatase, Leukocytes

Supporting the biochemical diagnosis of mucopolysaccharidosis II (MPS II; Hunter syndrome) in whole blood specimens This test is not useful for carrier detection for MPS II.

HRTVC - Overview: Heartland Virus, RNA, Molecular Detection, PCR, Spinal Fluid

Aiding in the diagnosis of central nervous system infection caused by Heartland virus using spinal fluid specimens

CMVLR - Overview: Cytomegalovirus (CMV) Molecular Detection, PCR, Lower Respiratory

Rapid qualitative detection of cytomegalovirus (CMV) DNA in lower respiratory specimens This test is not intended for the monitoring of CMV disease progression or response to therapy.

CMAFF - Overview: Chromosomal Microarray (CMA) Familial Testing, FISH

Determining the inheritance pattern of copy number changes previously identified by chromosomal microarray analysis in a patient and aiding in the clinical interpretation of the pathogenicity of the copy number change

199PT - Overview: Carbohydrate Antigen 19-9 (CA 19-9), Peritoneal Fluid

An adjunct to cytology to differentiate between malignancy-related ascites and benign causes of ascites formation

CALPR - Overview: Calprotectin, Feces

Evaluating patients suspected of having a gastrointestinal inflammatory process Distinguishing inflammatory bowel disease from irritable bowel syndrome, when used in conjunction with other diagnostic modalities, including endoscopy,...

TQ10 - Overview: Coenzyme Q10, Total, Plasma

Diagnosis of primary coenzyme Q10 (CoQ10) deficiencies in some patients who are not supplemented with CoQ10 Monitoring patients receiving statin therapy Monitoring CoQ10 status during treatment of various degenerative conditions,...

CORTU - Overview: Cortisol, Free, 24 Hour, Urine

Preferred screening test for Cushing syndrome Diagnosis of pseudo-hyperaldosteronism due to excessive licorice consumption Test may not be useful in the evaluation of adrenal insufficiency.

CMVG - Overview: Cytomegalovirus (CMV) Antibodies, IgG, Serum

Determining whether a patient (especially transplant recipients and organ and blood donors) has had a recent infection or previous exposure to cytomegalovirus

C2 - Overview: C2 Complement, Functional, with Reflex, Serum

Investigation of a patient with a low (absent) hemolytic complement, with reflex testing to C3 and C4, if appropriate

HEX4 - Overview: Glucotetrasaccharides, Random, Urine

Diagnosing Pompe disease, when used in conjunction with acid alpha-glucosidase enzyme activity assays and molecular genetic analysis of the GAA gene Monitoring patients with Pompe disease on enzyme replacement therapy May support the...

HPFH - Overview: Hemoglobin F Distribution, Blood

Distinguishing large deletional hereditary persistence of fetal hemoglobin from other conditions with increased percentage of fetal hemoglobin (Hb F) Determining the distribution of Hb F within red blood cells

HAVTA - Overview: Hepatitis A Virus Total Antibodies, Serum

Detection of recent or previous exposure or immunity to hepatitis A. This test should not be used as a screening or confirmatory test for blood or solid or soft tissue donor specimens.

HERDM - Overview: HER2, Breast, DCIS, Quantitative Immunohistochemistry, Manual with HER2 FISH Reflex

Determining overexpression of HER2 protein on formalin-fixed, paraffin-embedded tissue sections in ductal carcinoma in situ or solid/intracystic papillary carcinoma breast tissue with a reflex to FISH testing if the specimen is equivocal...

MPO - Overview: Myeloperoxidase Antibodies, IgG, Serum

Evaluating patients with clinical features anti-neutrophil cytoplasmic antibody associated vasculitis, specifically granulomatosis with polyangiitis, microscopic polyangiitis (MPA), and eosinophilic granulomatosis with polyangiitis...

IDENT - Overview: Organism Referred for Identification, Aerobic Bacteria

Identification of pure isolates of aerobic bacteria Differentiation of members of the Staphylococcus aureus complex (S aureus, Staphylococcus argenteus, Staphylococcus schweitzeri)

PSYCF - Overview: Psychosine, Spinal Fluid

Aiding in the biochemical diagnosis of Krabbe disease using cerebrospinal fluid specimens Follow-up of individuals affected with Krabbe disease Follow-up testing after an abnormal newborn screening result for Krabbe disease Monitoring...

PMLR - Overview: PML::RARA Quantitative, PCR, Varies

Diagnosis of acute promyelocytic leukemia (APL) Detection of residual or recurrent APL Monitoring the level of PML::RARA (promyelocytic leukemia/retinoic acid receptor alpha) in APL patients

PIPU - Overview: Pipecolic Acid, Random, Urine

Differentiating between disorders of peroxisomal biogenesis (eg, Zellweger syndrome) and disorders with loss of a single peroxisomal function Detecting abnormal elevations of pipecolic acid in urine

PKU - Overview: Phenylalanine and Tyrosine, Plasma

Monitoring effectiveness of dietary therapy in patients with hyperphenylalaninemia

PRCAL - Overview: Procalcitonin, Serum

Monitoring antibiotic therapy and all-cause mortality for patients diagnosed with severe sepsis or septic shock in the Intensive Care Unit (ICU) or when obtained in the emergency department or other medical wards prior to ICU admission

QFP - Overview: Q Fever IgM and IgG, Titer, Serum

Diagnosis of Coxiella burnetii, the causative agent of Q fever

RBPG - Overview: Rubella Antibodies, IgG, Serum

Determining immune status to the rubella virus

SHIGC - Overview: Shigella Culture, Feces

Determining whether Shigella species may be the cause of diarrhea Reflexive testing for Shigella species from nucleic acid amplification test-positive stool This test is generally not useful for patients hospitalized more than 3 days...