Test Catalog
VITAE - Overview: Vitamin A and Vitamin E, Serum
Diagnosing vitamin A deficiency and toxicity Evaluating persons with intestinal malabsorption of lipids Monitoring of Vitamin E supplementation/treatment
VITA - Overview: Vitamin A, Serum
Diagnosing vitamin A deficiency and toxicity Monitoring vitamin A therapy
FSCPR - Overview: Scleroderma Comprehensive Profile
Scleroderma Comprehensive Profile
FURA - Overview: Uranium, Urine
Uranium, Urine
FCRNS - Overview: Smut Corn (Ustilago maydis) IgE
Smut Corn (Ustilago maydis) IgE
C9ORF - Overview: C9orf72 Hexanucleotide Repeat, Molecular Analysis, Varies
Molecular confirmation of clinically suspected cases of c9FTD/ALS, frontotemporal dementia (FTD), or amyotrophic lateral sclerosis (ALS) Presymptomatic testing for individuals with a family history of c9FTD/ALS and a documented expansion...
AFP - Overview: Alpha-Fetoprotein (AFP) Tumor Marker, Serum
Follow-up management of patients undergoing cancer therapy, especially for testicular and ovarian tumors and for hepatocellular carcinoma Often used in conjunction with human chorionic gonadotropin.(2) This test is not recommended as a...
AFPSF - Overview: Alpha-Fetoprotein (AFP), Spinal Fluid
An adjunct in the diagnosis of central nervous system (CNS) germinomas and meningeal carcinomatosis Evaluating the presence of germ-cell tumors in the CNS, in conjunction with cerebrospinal fluid (CSF) beta-human chorionic gonadotropin...
ALKOT - Overview: Anaplastic Lymphoma Kinase (ALK [OTI1A4]) Immunostain, Technical Component Only
Identification of anaplastic lymphoma kinase expression Diagnosis of inflammatory myofibroblastic tumor and anaplastic large cell lymphoma
GAAZ - Overview: Pompe Disease, Full Gene Analysis, Varies
Confirmation of diagnosis of Pompe disease (as a follow-up to biochemical analyses)
HEXAZ - Overview: Tay-Sachs Disease, HEXA Gene, Full Gene Analysis, Varies
Second-tier test for confirming a biochemical diagnosis of Tay-Sachs disease (TSD) Carrier testing of individuals with a family history of TSD but an affected individual is not available for testing or disease-causing mutations have not...
CYPZ - Overview: 21-Hydroxylase Gene, CYP21A2, Full Gene Analysis, Varies
Carrier screening and diagnosis of 21-hydroxylase deficient congenital adrenal hyperplasia (CAH) in individuals with a personal or family history of 21-hydroxylase deficiency, or as follow-up to positive CAH newborn screens and/or...
HEXBZ - Overview: Sandhoff Disease, HEXB Gene, Full Gene Analysis, Varies
Follow up for abnormal biochemical results suggestive of Sandhoff disease Establishing a molecular diagnosis for patients with Sandhoff disease Identifying variants within genes known to be associated with Sandhoff disease, allowing for...
GID2 - Overview: Gastrointestinal Dysmotility, Autoimmune/Paraneoplastic Evaluation, Serum
Investigating unexplained weight loss, early satiety, anorexia, nausea, vomiting, constipation, or diarrhea in a patient with a past or family history of cancer or autoimmunity Directing a focused search for cancer Investigating...
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...
EPCRB - Overview: Ehrlichia/Anaplasma, Molecular Detection, PCR, Blood
Evaluating patients suspected of acute anaplasmosis or ehrlichiosis This test should not be used for screening asymptomatic individuals.
CIB - Overview: Cutaneous Direct Immunofluorescence Assay, Varies
Confirming a diagnosis of bullous pemphigoid, cicatricial pemphigoid, pemphigoid gestationis and other variants of pemphigoid, all types of pemphigus, including paraneoplastic pemphigus (paraneoplastic multiorgan syndrome), dermatitis...
PCDEC - Overview: Pediatric Autoimmune Encephalopathy/CNS Disorder Evaluation, Spinal Fluid
Evaluating children with autoimmune central nervous system disorders using spinal fluid specimens
IGFMS - Overview: Insulin-Like Growth Factor-1, Mass Spectrometry, Serum
Evaluation of growth disorders Evaluation of growth hormone deficiency or excess in children and adults Monitoring of recombinant human growth hormone treatment Follow-up of individuals with acromegaly and gigantism
Diagnosis of inflammatory demyelinating diseases (IDD) with similar phenotype to neuromyelitis optica (NMO) spectrum disorder (NMOSD), including optic neuritis (single or bilateral) and transverse myelitis Diagnosis of autoimmune myelin...
PT217 - Overview: Phospho-Tau 217, Plasma
Evaluation of individuals, aged 50 years and older, presenting with cognitive impairment who are being assessed for Alzheimer disease and other causes of cognitive decline This test is not intended as a screening test for Alzheimer...
MESOF - Overview: Mesothelioma, CDKN2A FISH, Tissue
Supporting the diagnosis of mesothelioma when used in conjunction with an anatomic pathology consultation
LYWB - Overview: Lyme Disease Antibody, Immunoblot, Serum
Aiding in the diagnosis of systemic Lyme disease This test should not be used as a screening assay.
ENAE - Overview: Antibody to Extractable Nuclear Antigen Evaluation, Serum
Evaluating patients with clinical features suggestive of antinuclear antibody (ANA) associated connective tissue disease. May also be indicated in patients who test negative for ANA and have features of Sjogren syndrome and idiopathic...
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.
MDC2 - Overview: Movement Disorder, Autoimmune/Paraneoplastic Evaluation, Spinal Fluid
Evaluating patients with suspected paraneoplastic or other autoimmune movement disorders including patients with ataxia, brainstem encephalitis, chorea, dyskinesias, myoclonus, and parkinsonism using spinal fluid specimens
SQTSG - Overview: Short QT Syndrome Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of short QT syndrome Establishing a diagnosis of short QT syndrome
PCDES - Overview: Pediatric Autoimmune Encephalopathy/CNS Disorder Evaluation, Serum
Evaluating children with autoimmune central nervous system disorders using serum specimens
PAVAL - Overview: Paraneoplastic, Autoantibody Evaluation, Serum
Serological evaluation of patients who present with a subacute neurological disorder of undetermined etiology, especially those with known risk factors for cancer Directing a focused search for cancer Investigating neurological symptoms...
SHBG1 - Overview: Sex Hormone-Binding Globulin, Serum
Diagnosis and follow-up of women with signs or symptoms of androgen excess (eg, polycystic ovarian syndrome and idiopathic hirsutism) An adjunct in monitoring sex-steroid and antiandrogen therapy An adjunct in the diagnosis of disorders...
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...
FMTT - Overview: Familial Variant, Targeted Testing, Varies
Diagnostic or predictive testing for specific conditions when a DNA variant of interest has been previously identified in a family member and follow-up testing for this specific variant in other family members is desired Carrier screening...
CRY_S - Overview: Cryoglobulin, Serum
Evaluating cryoglobulins in patients with vasculitis, glomerulonephritis, and lymphoproliferative diseases Evaluating cryoglobulins in patients with macroglobulinemia or myeloma in whom symptoms occur with cold exposure This test is not...
PMND1 - Overview: Primary Membranous Nephropathy Diagnostic Cascade, Serum
Distinguishing primary from secondary membranous nephropathy using an algorithmic approach Monitoring patients with membranous nephropathy at very low antibody titers Screening for anti-phospholipase A2 receptor antibodies
PF199 - Overview: Carbohydrate Antigen 19-9 (CA 19-9), Pleural Fluid
An adjuvant to cytology and imaging studies to differentiate between nonmalignant and malignant causes of pleural effusions
PFCEA - Overview: Carcinoembryonic Antigen (CEA), Pleural Fluid
An adjuvant to cytology and imaging studies to differentiate between nonmalignant and malignant causes of pleural effusions
199PC - Overview: Carbohydrate Antigen 19-9 (CA 19-9), Pancreatic Cyst Fluid
As an adjunct in the assessment of pancreatic cysts, when used in conjunction with carcinoembryonic antigen, amylase, imaging studies and cytology
C4 - Overview: Complement C4, Serum
Investigating an undetectable total complement Confirming hereditary angioedema (with low C1 inhibitor) Assessing disease activity in systemic lupus erythematosus, proliferative glomerulonephritis, rheumatoid arthritis, and autoimmune...
CYTNG - Overview: Cytology Non-Gynecologic, Varies
Detecting malignant and premalignant changes
TCRB - Overview: T-Cell Receptor V-Beta Repertoire Analysis, Spectratyping, Blood
Assessment of T-cell receptor diversity in various clinical contexts including inborn errors of immunity (formerly primary immunodeficiencies), monitoring immune reconstitution post-hematopoietic stem cell transplantation, and temporal...
CTB - Overview: Mycobacteria and Nocardia Culture, Varies
Detection and identification of Mycobacterium species, Nocardia species, and other aerobic actinomycetes
Determining iodine overload using serum specimens Monitoring iodine levels in individuals taking iodine-containing drugs
EPPAN - Overview: Comprehensive Epilepsy With or Without Encephalopathy Gene Panel, Varies
Establishing a diagnosis of an epilepsy or seizure disorder associated with known causal genes Identifying disease-causing variants within genes known to be associated with inherited epilepsy or seizure disorders, allowing for predictive...
Providing a genetic evaluation for patients with a personal or family history suggestive of a hereditary form of dilated cardiomyopathy or left ventricular noncompaction Establishing a diagnosis of a hereditary form dilated cardiomyopathy...
CKDGP - Overview: Cystic Kidney Disease Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history of cystic kidney disease Establishing a diagnosis of hereditary cystic kidney disease
DWPAN - Overview: Comprehensive Distal Weakness Gene Panel, Varies
Establishing a molecular diagnosis for patients with distal weakness Identifying variants within genes known to be associated with distal weakness, allowing for predictive testing of at-risk family members
CHLGP - Overview: Cholestasis Gene Panel, Varies
Establishing a molecular diagnosis for patients with monogenic cholestasis Identifying variants within genes known to be associated with primary, monogenic cholestasis, allowing for predictive testing of at-risk family members This panel...
Confirmation of a clinical diagnosis of Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD) Distinguishing DMD from BMD in some cases, based on the type of deletion detected (allows for better prediction of...
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
CSTB - Overview: CSTB Gene, Repeat Expansion Analysis, Varies
Molecular confirmation of clinically suspected CSTB-related progressive myoclonic epilepsy Identifying full penetrance dodecamer repeat expansions within CSTB known to cause CSTB-related progressive myoclonic epilepsy, allowing for...