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,...

PAC1 - Overview: Paraneoplastic, Autoantibody Evaluation, Spinal Fluid

Aiding in the diagnosis of paraneoplastic neurological autoimmune disorders related to carcinoma of lung, breast, ovary, thymoma, or Hodgkin lymphoma using spinal fluid specimens

DYS2 - Overview: Dysautonomia, Autoimmune/Paraneoplastic Evaluation, Serum

Investigating idiopathic dysautonomic symptoms Directing a focused search for cancer in patients with idiopathic dysautonomia Investigating autonomic symptoms that appear in the course or wake of cancer therapy and are not explainable by...

SCIDP - Overview: Severe Combined Immunodeficiency (SCID) Gene Panel, Varies

Establishing a diagnosis of a severe combined immunodeficiency (SCID) associated with known causal genes Identifying variants within genes known to be associated with SCID, allowing for predictive testing of at-risk family members and/or...

HCHLG - Overview: Hypercholesterolemia Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of familial hypercholesterolemia (FH), sitosterolemia, or other monogenic forms of inherited hypercholesterolemia Establishing a diagnosis of FH,...

MSFNG - Overview: Fibronectin Glomerulopathy Confirmation, Mass Spectrometry

Aiding in the diagnosis of fibronectin glomerulopathy

HGOU - Overview: Mercury Occupational Exposure, Random, Urine

Detecting mercury toxicity due to occupational exposure in random urine specimens

MEV0 - Overview: Methemoglobin Summary Interpretation

Incorporating and summarizing subsequent results into an overall interpretation for the MEV1 / Methemoglobinemia Evaluation, Blood

CMVC8 - Overview: Cytomegalovirus (CMV) CD8 T-Cell Immune Competence, Quantitative Assessment by Flow Cytometry, Blood

Assessing cytomegalovirus (CMV)-specific immune competence in allo-hematopoietic stem cell transplantation patients who are at risk for developing late CMV disease (beyond day 100 after transplant) Assessing CMV-specific immune competence...

ALB24 - Overview: Albumin, 24 Hour, Urine

Evaluating diabetic patients to assess the potential for early onset of nephropathy

BA48F - Overview: Bile Acids, Bowel Dysfunction, 48 Hour, Feces

Aids in evaluation of patients suspected of having irritable bowel syndrome-diarrhea symptoms due to bile acid malabsorption

CD40 - Overview: B-Cell CD40 Expression by Flow Cytometry, Blood

Evaluating patients for hyper-IgM type 3 (HIGM3) syndrome due to defects in CD40, typically seen in patients less than 10 years Assessing B-cell immune competence in other clinical contexts, including autoimmunity, malignancy, and...

BMIPB - Overview: Borrelia miyamotoi Detection, PCR, Blood

Aiding in the diagnosis of Borrelia miyamotoi infection in conjunction with clinical findings Preferred method for detection of B miyamotoi using blood specimens

BTDZ - Overview: Biotinidase Deficiency, BTD Full Gene Analysis, Varies

Second-tier test for confirming biotinidase deficiency (indicated by biochemical testing or newborn screening) Carrier testing of individuals with a family history of biotinidase deficiency, but disease-causing mutations have not been...

HCMM - Overview: Homocysteine (Total), Methylmalonic Acid, and Methylcitric Acid, Blood Spot

Second-tier assay of newborn screening specimens when abnormal propionyl carnitine or methionine concentrations are identified in a primary newborn screen

JAK2V - Overview: JAK2 V617F Mutation Detection, Varies

Aiding in the distinction between a reactive blood cytosis and a chronic myeloproliferative disorder using extracted DNA specimens

LGB3S - Overview: Globotriaosylsphingosine, Serum

Diagnosis and monitoring of Fabry disease

GDU - Overview: Gadolinium, 24 Hour, Urine

Assessing chronic exposure and monitoring effectiveness of dialysis in a 24-hour urine collection

HGUCR - Overview: Mercury/Creatinine Ratio, Random, Urine

Detecting mercury toxicity, a toxic heavy metal, using random urine specimens

RSBV - Overview: Rare Subepithelial Autoimmune Blistering Disease Variants, Serum

Aiding in the diagnosis of rare subepithelial autoimmune blistering diseases, including anti-laminin 332 pemphigoid, anti-p200 pemphigoid, epidermolysis bullosa acquisita, and systemic bullous lupus erythematosus

PLABN - Overview: Platelet Antibody Screen, Serum

Detecting alloantibodies to epitopes on platelet glycoproteins IIb/IIIa, Ib/Ix, Ia/IIa, IV and class I human leukocyte antigens to evaluate cases of immune mediated refractoriness to platelet transfusions, posttransfusion purpura, or...

RNAP - Overview: RNA Polymerase III Antibodies, IgG, Serum

Evaluating patients suspected of having systemic sclerosis as part of systemic sclerosis criteria antibody tests Providing diagnostic and prognostic information in patients with systemic sclerosis

GDF15 - Overview: Growth Differentiation Factor 15, Plasma

A circulating biomarker in myopathy-related mitochondrial disease as well as other conditions Investigation of patients suspected of having a mitochondrial myopathy This assay is not suitable for carrier detection.

KI67B - Overview: Ki-67(MIB-1), Breast, Quantitative Immunohistochemistry, Automated

Determining proliferation of tumor cells in paraffin-embedded tissue blocks from patients diagnosed with breast carcinoma

TOXB - Overview: Toxoplasma gondii, Molecular Detection, PCR, Blood

Supporting the diagnosis of active toxoplasmosis, particularly in immunocompromised individuals

SUAC - Overview: Succinylacetone, Blood Spot

Second-tier newborn screen for tyrosinemia type 1 (HT-1) when primary screen showed nonspecific elevations of tyrosine Diagnosing HT-1 when used in conjunction with testing for urine organic acids, liver function, alpha-fetoprotein, and...

YERSC - Overview: Yersinia Culture, Feces

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

HL58R - Overview: HLA-B*5801 Genotype, Allopurinol Hypersensitivity, Varies

Identifying individuals with an increased risk of severe cutaneous adverse reactions to allopurinol based on the presence of the human leukocyte antigen HLA-B*58:01 allele

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,...

BTWGS - Overview: Bacterial Typing, Whole Genome Sequencing, Varies

Aiding in the investigation of a potential outbreak by a single bacterial species May assist in identification of recurrent infection in an individual patient

IFG23 - Overview: Intact Fibroblast Growth Factor 23, Serum

Diagnosing and monitoring tumor induced osteomalacia Diagnosing X-linked hypophosphatemia or autosomal dominant hypophosphatemic rickets Diagnosing familial tumoral calcinosis with hyperphosphatemia

H2GE - Overview: HER2 Amplification Associated with Gastroesophageal Cancer, FISH, Tissue

A predictive marker for patients with both node-positive or node-negative primary and metastatic gastroesophageal cancer Guiding therapy for patients with primary or metastatic gastroesophageal tumors, as patients with HER2 amplification...

HPRP - Overview: Helicobacter pylori with Clarithromycin Resistance Prediction, Molecular Detection, PCR, Tissue

Aiding in the diagnosis of Helicobacter pylori infection and prediction of clarithromycin resistance or susceptibility directly from gastric biopsies

HPFRP - Overview: Helicobacter pylori with Clarithromycin Resistance Prediction, Molecular Detection, PCR, Feces

Aiding in the diagnosis of Helicobacter pylori infection and prediction of clarithromycin resistance or susceptibility directly from stool

PSAFT - Overview: Prostate-Specific Antigen (PSA), Total and Free, Serum

As an aid in distinguishing prostate cancer from benign prostatic conditions in men aged 50 years and older with total PSA between 4.0 and 10.0 ng/mL with digital rectal examination findings that are not suspicious for cancer

PEWE - Overview: Porphyrins Evaluation, Washed Erythrocytes

Preferred test for analysis of erythrocyte porphyrins Establishing a biochemical diagnosis of erythropoietic protoporphyria, and X-linked dominant protoporphyria

PNTO - Overview: Streptococcus pneumoniae IgG Antibodies, Total, Serum

Assessing the IgG antibody response to active immunization with nonconjugated 23-valent pneumococcal vaccines Assessing the IgG antibody response to active immunization with conjugated 13-valent, 15-valent and 20-valent pneumococcal...

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

MCFRC - Overview: MayoComplete Renal Cell Carcinoma with Fibromyomatous Stroma Panel, Next-Generation Sequencing, Tumor

Identifying specific mutations within the ELOC (TCEB1), TSC1, TSC2, and VHL genes to assist in tumor diagnosis/classification Assisting in the clinical management of patients with renal cell carcinoma

MDM2F - Overview: MDM2 (12q15) Amplification, Well-Differentiated Liposarcoma/Atypical Lipomatous Tumor, FISH, Tissue

Identifying MDM2 amplification Supporting the diagnosis of many neoplasms, including, but not limited to, well-differentiated liposarcoma, atypical lipomatous tumor, dedifferentiated liposarcoma, parosteal osteosarcoma and central...

HPVLR - Overview: Human Papillomavirus (HPV) Low Risk, In Situ Hybridization

Detection of human papillomavirus from low-risk genotypes (6, 11)

GBACS - Overview: Gamma-Amino Butyric Acid Type A (GABA-A) Receptor Antibody, Cell-Binding Assay, Serum

Evaluating patients with suspected autoimmune encephalitis and autoimmune epilepsy using serum specimens

GBACC - Overview: Gamma-Amino Butyric Acid Type A (GABA-A) Receptor Antibody, Cell-Binding Assay, Spinal Fluid

Evaluating patients with suspected autoimmune encephalitis and autoimmune epilepsy using spinal fluid specimens

COL7 - Overview: Anti-Collagen type VII, IgG Antibodies, Serum

Initial screening test in the diagnosis of epidermolysis bullosa acquisita and other immunobullous diseases mediated by collagen VII

ENC2 - Overview: Encephalopathy, Autoimmune/Paraneoplastic Evaluation, Spinal Fluid

Evaluating new onset encephalopathy (noninfectious or metabolic) comprising confusional states, psychosis, delirium, memory loss, hallucinations, movement disorders, sensory or motor complaints, seizures, dyssomnias, ataxias, nausea,...

ENS2 - Overview: Encephalopathy, Autoimmune/Paraneoplastic Evaluation, Serum

Evaluating, using serum specimens, new onset encephalopathy (noninfectious or metabolic) comprising confusional states, psychosis, delirium, memory loss, hallucinations, movement disorders, sensory or motor complaints, seizures, dyssomnias,...

DMC2 - Overview: Dementia, Autoimmune/Paraneoplastic Evaluation, Spinal Fluid

Investigating new onset dementia and cognitive impairment plus 1 or more of the following accompaniments using cerebrospinal fluid specimens: -Rapid onset and progression -Fluctuating course -Psychiatric accompaniments (psychosis,...

EPS2 - Overview: Epilepsy, Autoimmune/Paraneoplastic Evaluation, Serum

Investigating new onset cryptogenic epilepsy with incomplete seizure control and duration of less than 2 years, using serum specimens Investigating new onset cryptogenic epilepsy plus 1 or more of the following accompaniments: -Psychiatric...

DMS2 - Overview: Dementia, Autoimmune/Paraneoplastic Evaluation, Serum

Investigating new onset dementia and cognitive impairment plus 1 or more of the following using serum specimens: -Rapid onset and progression -Fluctuating course -Psychiatric accompaniments (psychosis, hallucinations) -Movement disorder...

WGSDX - Overview: Whole Genome Sequencing for Hereditary Disorders, Varies

Serving as a first-tier test to identify a molecular diagnosis in patients with suspected genetic disorders, which can allow for: -Better understanding of the natural history/prognosis -Targeted management (anticipatory guidance, management...