GSH - Overview: Glutathione, Blood

Evaluation of neonatal hyperbilirubinemia, favism or chronic or episodic hemolysis or jaundice Evaluation for gamma-glutamylcysteine synthetase deficiency Evaluation for glutathione synthetase deficiency causing hemolytic anemia...

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

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

LAPYP - Overview: Lactate Pyruvate Panel, Plasma

Diagnosing and monitoring patients with lactic acidosis Monitoring lactate-to-pyruvate ratios

SM - Overview: Smith (Sm) Antibodies, IgG, Serum

Evaluating patients with clinical features suggestive of antinuclear antibody associated connective tissue disease and the confirmation of a diagnosis of systemic lupus erythematosus. Testing for Smith antibodies is not useful in patients...

SBULB - Overview: Spinobulbar Muscular Atrophy (Kennedy Disease), Molecular Analysis, Varies

Molecular confirmation of clinically suspected cases of sporadic or familial spinobulbar muscular atrophy (SBMA) Presymptomatic testing for individuals with a family history of SBMA and a documented expansion in the androgen receptor (AR)...

VRERP - Overview: Vancomycin-Resistant Enterococcus, Molecular Detection, PCR, Varies

Identifying carriers of vancomycin-resistant enterococci

PMET - Overview: Metanephrines, Fractionated, Free, Plasma

Screening test for presumptive diagnosis of catecholamine-secreting pheochromocytomas or paragangliomas

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...

WESMT - Overview: Whole Exome and Mitochondrial Genome Sequencing, Varies

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

FPAIG - Overview: Plasminogen Activator Inhibitor-1, 4G/5G Genotyping (PAI-1 Polymorphism)

Plasminogen Activator Inhibitor-1, 4G/5G Genotyping (PAI-1 Polymorphism)

5AINH - Overview: Factor V Inhibitor Profile, Professional Interpretation

Interpretation of testing for factor V inhibitors

8AINH - Overview: Factor VIII Inhibitor Profile, Professional Interpretation

Interpretation for the detection of the presence and titer of a specific factor inhibitor directed against coagulation factor VIII

FETCE - Overview: Mitochondrial Respiratory Chain Enzyme Analysis (ETC) - Skin Fibroblasts

Mitochondrial Respiratory Chain Enzyme Analysis (ETC) - Skin Fibroblasts

ALPSG - Overview: Autoimmune Lymphoproliferative Syndrome (ALPS) Gene Panel, Varies

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of autoimmune lymphoproliferative syndrome (ALPS) or related disorders Establishing a diagnosis of ALPS or a related disorder, allowing...

NHEM - Overview: Hereditary Erythrocytosis Focused Gene Panel, Next-Generation Sequencing, Varies

Focused evaluation of an individual with JAK2-V617F negative erythrocytosis associated with lifelong sustained increased red blood cell (RBC) mass, hemoglobin, or hematocrit Providing a focused genetic evaluation for patients with a...

CDKZ - Overview: CDKN1C Gene, Full Gene Analysis, Varies

Confirming a clinical diagnosis of Beckwith-Wiedemann syndrome following a normal result on methylation analysis Confirming a clinical diagnosis of IMAGe (intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia...

GNADM - Overview: Hereditary Thrombotic Thrombocytopenic Purpura, ADAMTS13 Gene, Next-Generation Sequencing, Varies

Evaluating hereditary thrombotic thrombocytopenic purpura (TTP) in patients with a personal or family history suggestive of thrombotic microangiopathy Confirming a hereditary TTP diagnosis with the identification of known or suspected...

GNMY9 - Overview: MYH9-Related Disorders, MYH9 Gene, Next-Generation Sequencing, Varies

Evaluating MYH9-related disorders, including May-Hegglin disorder/anomaly and Sebastian syndrome, in patients with a personal or family history suggestive of an MYH9-related disorder Diagnosing MYH9-related disorders, including May-Hegglin...

IMMAU - Overview: Inborn Errors of Immunity with Immune Dysregulation and Autoimmunity Gene Panel, Varies

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of an inborn error of immunity (IEI) associated with immune dysregulation or autoimmunity Establishing a diagnosis of an IEI, allowing...

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...

WESDX - Overview: Whole Exome 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...

HLHGP - Overview: Primary Hemophagocytic Lymphohistiocytosis Gene Panel, Varies

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of familial hemophagocytic lymphohistiocytosis (F-HLH) Establishing a diagnosis of F-HLH, allowing for appropriate management and...

FNEOS - Overview: Neopterin

Increased levels of neopterin are found during impaired renal function and viral infection in transplant patients. Elevated levels are also indicators for conditions related to impaired cellular immunity.

ROMA2 - Overview: Risk Score, if Postmenopausal, Serum

Calculating risk assessment for finding an ovarian malignancy during surgery in postmenopausal women who present with an adnexal mass

ROMA1 - Overview: Risk Score, if Premenopausal, Serum

Calculating risk assessment for finding an ovarian malignancy during surgery in premenopausal women who present with an adnexal mass

9INHT - Overview: Factor IX Inhibitor Profile Technical Interpretation

Technical interpretation of inhibitor to factor IX testing for patients with hemophilia B

FIAAB - Overview: IA2 Autoantibodies

IA2 Autoantibodies

SAFB - Overview: Acid-Fast Smear for Mycobacterium, Varies

Detection of acid-fast bacilli in clinical samples

ALPS - Overview: Alpha Beta Double-Negative T Cells for Autoimmune Lymphoproliferative Syndrome, Blood

Diagnosing autoimmune lymphoproliferative syndrome, primarily in patients younger than 45 years

BETV2 - Overview: BET v2 (Profilin), IgE, Serum

Evaluation of patients suspected birch pollen allergy Evaluation of patients with suspected peanut allergy Evaluation of patients with oral allergy syndrome to other pollens or plant-based foods Testing for IgE antibodies is not useful...

CFRC - Overview: Bacterial Culture, Cystic Fibrosis, Respiratory

Detecting disease-causing aerobic bacteria in specimens from patients with cystic fibrosis

AATTA - Overview: Antithrombin Summary Interpretation

Diagnosis of antithrombin deficiency, acquired or congenital Monitoring treatment of antithrombin deficiency disorders, including infusion of antithrombin therapeutic concentrate

ASPAG - Overview: Aspergillus (Galactomannan) Antigen, Serum

Aiding in the diagnosis of invasive aspergillosis Assessing response to therapy

ATTI - Overview: Antithrombin Antigen, Plasma

Assessing abnormal results of the antithrombin activity assay (ATTF / Antithrombin Activity, Plasma), the recommended primary (screening) antithrombin assay Diagnosing antithrombin deficiency, acquired or congenital, in conjunction with...

HGBCE - Overview: Hemoglobin Variant, A2 and F Quantitation, Blood

Monitoring patients with sickling disorders who have received hydroxyurea or transfusion therapy This test is not intended for diagnostic purposes. This test is not useful for screening purposes.

INHA - Overview: Inhibin A, Tumor Marker, Serum

Aiding in the diagnosis of patients with granulosa cell tumors of the ovary when used in combination with inhibin B Monitoring of patients with granulosa cell tumors and epithelial mucinous-type tumors of the ovary known to secrete inhibin...

FET - Overview: Iron, Liver Tissue

Diagnosis of hemochromatosis using liver tissue specimens

CMAT - Overview: Chromosomal Microarray, Tumor, Fresh or Frozen

Genomic characterization of tumor for copy number imbalances and loss of heterozygosity Assisting in the diagnosis and classification of malignant neoplasms, including hematolymphoid malignancies Evaluating the prognosis for patients with...

KRASD - Overview: Cell-Free DNA KRAS 12, 13, 61,146, Blood

An alternative to invasive tissue biopsies for the determination of KRAS 12, 13, 61,146 (G12A, G12C, G12D, G12R, G12S, G12V, G13D, Q61K, Q61L, Q61R, Q61H, and A146T) mutation status Detecting molecular markers associated with response or...

CRCOF - Overview: Chromium and Cobalt, Synovial Fluid

Monitoring metallic prosthetic implant wear and local tissue destruction in failed hip arthroplasty constructs This test is not useful for assessment of vitamin B12 activity.

CLFAT - Overview: Cryptococcus Antigen Titer, Lateral Flow Assay, Spinal Fluid

Monitoring Cryptococcus antigen titers in cerebrospinal fluid Aiding in the diagnosis of cryptococcosis This test should not be used as a test of cure or to guide treatment decisions.

HVA - Overview: Homovanillic Acid, 24 Hour, Urine

Screening children for catecholamine-secreting tumors using a 24-hour urine collection when requesting homovanillic acid only Monitoring neuroblastoma treatment Screening patients with possible inborn errors of catecholamine metabolism

NSESF - Overview: Neuron-Specific Enolase (NSE), Spinal Fluid

An auxiliary test in the diagnosis of Creutzfeldt-Jakob disease An auxiliary test in the diagnosis of small cell lung carcinoma metastasis to central nervous system or leptomeninges

PDBS - Overview: Pompe Disease, Blood Spot

Evaluating patients with a clinical presentation suggestive of Pompe disease (muscle hypotonia, weakness, or cardiomyopathy) outside of the newborn screening setting

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...

PPFWE - Overview: Protoporphyrins, Fractionation, Washed Erythrocytes

Preferred test for analysis of erythrocyte protoporphyrin fractions Preferred test for evaluating patients with possible diagnoses of erythropoietic protoporphyria and X-linked dominant protoporphyria Establishing a biochemical...

DDITT - Overview: D-Dimer, Plasma

Excluding the diagnosis of acute pulmonary embolism or deep vein thrombosis, particularly when results of a sensitive D-dimer assay are combined with clinical information, including pretest disease probability(1-4) Diagnosis of...

9INHE - Overview: Factor IX Inhibitor Evaluation, Plasma

Detection and titering of coagulation inhibitor to the specific factor requested, primarily factor IX in patients with hemophilia B This test is not useful for the detection of a lupus-like circulating anticoagulant inhibitor, a...

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

MNB - Overview: Manganese, Blood

Evaluation of central nervous system symptoms, similar to Parkinson disease, in manganese (Mn) miners and processors Characterization of liver cirrhosis Therapeutic monitoring in treatment of cirrhosis, parenteral nutrition-related Mn...