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

CASHR - Overview: Cashew, IgE with Reflex to Cashew Component, IgE, Serum

Evaluation of patients with suspected cashew allergy

CELI - Overview: Celiac Associated HLA-DQ Alpha 1 and DQ Beta 1 DNA Typing, Blood

Assessing risk of celiac disease

COMTQ - Overview: Catechol-O-Methyltransferase (COMT) Genotype, Varies

Prediction of response to nicotine replacement therapy for smoking cessation Investigation of inhibitor dosing for decreasing levodopa metabolism Research use for assessing estrogen metabolism

NTRKM - Overview: NTRK Genes Mutation Analysis, Next-Generation Sequencing, Tumor

Identifying NTRK mutations that may predict resistance to Trk inhibitors

METRN - Overview: Metanephrines, Fractionated, Random, Urine

A second-order screening test for the presumptive diagnosis of pheochromocytoma in patients with non-episodic hypertension Confirming positive plasma metanephrine results in patients with non-episodic hypertension

SERWB - Overview: Serotonin, Blood

In conjunction with, or as an alternative to, first-order tests in the differential diagnosis of isolated symptoms suggestive of carcinoid syndrome, in particular flushing (5-hydroxyindoleacetic acid or serum chromogranin A measurements are...

SER - Overview: Serotonin, Serum

In conjunction with, or as an alternative to, first-order tests in the differential diagnosis of isolated symptoms suggestive of carcinoid syndrome, in particular flushing (5-hydroxyindoleacetic acid or serum chromogranin A measurements are...

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

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...

GCLIP - Overview: Phospholipid (Cardiolipin) Antibodies, IgG, Serum

The following clinical situations, when used in conjunction with other criterial antiphospholipid antibody tests: -Unexplained arterial or venous thrombosis -A history of pregnancy morbidity defined as 1 or more unexplained deaths of a...

SHPV - Overview: Human Papillomavirus (HPV) DNA Detection with Genotyping, High-Risk Types by PCR, SurePath, Varies

Detection of high-risk (HR) genotypes associated with the development of cervical cancer An aid in triaging women with abnormal Pap smear test results Individual genotyping of human papillomavirus (HPV)-16 and/or HPV-18, if present...

F822B - Overview: Hemophilia A F8 Gene, Intron 22 Inversion Known Mutation, Whole Blood

First-tier molecular testing for male patients affected with severe hemophilia A, when a familial intron 22 inversion has been previously identified Determining hemophilia A carrier status for at-risk female patients, ie, individuals with...

QHV6C - Overview: Human Herpesvirus-6 A and B DNA Detection and Quantification, PCR, Spinal Fluid

As an adjunct in the rapid diagnosis of human herpesvirus-6 infection using cerebrospinal fluid specimens This test should not be used to screen asymptomatic patients.

IDHT - Overview: IDH1 and IDH2 Mutation Analyses, Next-Generation Sequencing, Tumor

Identifying specific mutations within the IDH1 and IDH2 genes that assist in tumor diagnosis/classification and predict response to targeted therapy

GALMP - Overview: Galactosemia, GALT Gene, Variant Panel, Varies

Second-tier test for confirming a diagnosis of galactosemia as indicated by enzymatic testing or newborn screening Carrier testing family members of an affected individual of known genotype (has variants included in the panel) Resolution...

LCMAL - Overview: Malaria, Molecular Detection, PCR, Varies

Detection of Plasmodium DNA and identification of the infecting species An adjunct to conventional microscopy of Giemsa-stained films, particularly in cases of low percent parasitemia or suboptimal parasite morphology Detection and...

ALPGP - Overview: Alport Syndrome Gene Panel, Varies

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

B2GMG - Overview: Beta-2 Glycoprotein 1 Antibodies, IgG and IgM, Serum

Evaluating patients with suspected antiphospholipid syndrome by identification of beta-2 glycoprotein 1 IgM and IgG antibodies First-line test when antiphospholipid syndrome is strongly suspected in conjunction with cardiolipin antibodies...

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

MCLIP - Overview: Phospholipid (Cardiolipin) Antibodies, IgM, Serum

The following clinical situations, when used in conjunction with other criterial antiphospholipid antibody tests: -Unexplained arterial or venous thrombosis -A history of pregnancy morbidity defined as 1 or more unexplained deaths of a...

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...

CD20B - Overview: CD20 on B Cells, Blood

Evaluation of patients with a suspected CD19 deficiency (humoral immunodeficiency) Confirming complete absence of B cells in suspected primary humoral immunodeficiencies using both CD19 and CD20 markers Assessing therapeutic B-cell...

CD4NY - Overview: CD4 Count for Monitoring, New York, Blood

Only orderable by New York clients Serial monitoring of CD4 T-cell count in patients who are HIV-positive Follow-up and diagnostic evaluation of primary cellular immunodeficiencies, including severe combined immunodeficiency T-cell...

CFMP - Overview: Cystic Fibrosis, CFTR Gene, Variant Panel, Varies

Confirmation of a clinical diagnosis of cystic fibrosis Reproductive risk refinement via carrier screening for individuals in the general population Reproductive risk refinement via carrier screening for individuals with a family history...

SERU - Overview: Serotonin, 24 Hour, Urine

Diagnosis of a small subgroup of carcinoid tumors that produce predominately 5-hydroxytryptophan (5-HTP) but very little serotonin and chromogranin A Follow-up for patients with known or treated carcinoid tumors that produce predominately...

DGGL - Overview: Gliadin (Deamidated) Antibody, IgG, Serum

Assessment of deaminated gliadin IgG antibodies for evaluating patients suspected of having celiac disease, including patients with compatible clinical symptoms, patients with atypical symptoms, and individuals at increased risk (family...

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,...

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...

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...

TTGG - Overview: Tissue Transglutaminase Antibody, IgG, Serum

Individuals with IgA deficiency Evaluating patients suspected of having celiac disease, including patients with compatible clinical symptoms, patients with atypical symptoms, and individuals at increased risk (family history, previous...

TREGS - Overview: T-Cell Subsets, Regulatory (Tregs), Blood

Evaluating patients with clinical features of IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked inheritance) and other primary immunodeficiencies, autoimmune diseases, allergy and asthma, and graft-vs-host disease...

AHUSD - Overview: Atypical Hemolytic Uremic Syndrome Complement Panel, Serum and Plasma

Detecting deficiencies in the alternative pathway that can cause atypical-hemolytic uremic syndrome, dense deposit disease, and C3 glomerulonephritis A second-tier test that aids in the differential diagnosis of thrombotic...

RFAMA - Overview: Renal Function Panel, Serum

Aiding in diagnosis and management of conditions affecting kidney function General health screening Screening patients at risk of developing kidney disease Management of patients with known kidney disease

TBBS - Overview: Quantitative Lymphocyte Subsets: T, B, and Natural Killer (NK) Cells, Blood

Serial monitoring of CD4 T-cell count in patients who are HIV-positive Follow-up and diagnostic evaluation of primary immunodeficiencies, including severe combined immunodeficiency Immune monitoring following immunosuppressive therapy...

QFT4 - Overview: QuantiFERON-TB Gold Plus, Blood

Indirect test for Mycobacterium tuberculosis infection, to be used in conjunction with risk assessment, radiography, and other medical and diagnostic evaluations This test is not recommended for use for diagnosis of active tuberculosis...

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...

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...

SCHPV - Overview: Human Papillomavirus (HPV) Detection and High-Risk Genotyping, Self-Collect, PCR, Vaginal

Human papillomavirus (HPV) screening for average-risk, asymptomatic individuals who are eligible for primary HPV testing, have barriers to a speculum exam for a clinician-collected cervical sample for screening, and who are able to...

ISNP - Overview: Inherited Sensory Neuropathy Gene Panel, Varies

Establishing a molecular diagnosis for patients with hereditary sensory (HSN) and autonomic neuropathy (HSAN) Identifying variants within genes known to be associated with HSN and HSAN, allowing for predictive testing of at-risk family...

DGLDN - Overview: Gliadin (Deamidated) Antibodies Evaluation, IgG and IgA, Serum

Assessment of deaminated gliadin IgA and IgG antibodies for evaluating patients suspected of having celiac disease, including patients with compatible clinical symptoms, patients with atypical symptoms, and individuals at increased risk...

DAGL - Overview: Gliadin (Deamidated) Antibody, IgA, Serum

Assessment of deaminated gliadin IgA antibodies for evaluating patients suspected of having celiac disease, including patients with compatible clinical symptoms, patients with atypical symptoms, and individuals at increased risk (family...

HMUOE - Overview: Heavy Metal Occupational Exposure, with Reflex, Random, Urine

Preferred screening test for detection of arsenic, cadmium, mercury, and lead due to occupational exposure using random urine specimens

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

FAPEP - Overview: Fatty Acid Profile, Essential, Serum

Evaluating the nutritional intake and intestinal absorption of essential fatty acids using serum specimens Identifying deficiency of essential and other nutritionally beneficial fatty acids Monitoring treatment of patients with essential...

HMUCR - Overview: Heavy Metal/Creatinine Ratio, with Reflex, Random, Urine

Preferred screening test for detection of arsenic, cadmium, mercury, and lead in random urine specimens

CMPRE - Overview: Family Member Comparator Specimen for Exome Sequencing, Varies

Submitting a biological family member's specimen to be used as a comparator for affected patients (probands) undergoing whole exome sequencing

ADPKP - Overview: Focused Autosomal Dominant Polycystic Kidney Disease Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of autosomal dominant polycystic kidney disease Establishing a diagnosis of autosomal dominant polycystic kidney disease

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...