Test Catalog Search Results
Screening for common variable immunodeficiency and hyper-IgM syndromes Assessing B-cell subset reconstitution after stem cell or bone marrow transplant Assessing response to B-cell-depleting immunotherapy This test is not indicated...
AIAES - Overview: Axonal Neuropathy, Autoimmune/Paraneoplastic Evaluation, Serum
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 that appear...
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...
IPFGP - Overview: Idiopathic Pulmonary Fibrosis Gene Panel, Varies
Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of familial idiopathic pulmonary fibrosis Establishing a diagnosis of familial idiopathic pulmonary fibrosis associated with known...
GIP - Overview: Gastrointestinal Pathogen Panel, PCR, Feces
Rapid detection of gastrointestinal infections caused by: -Campylobacter species (Campylobacter jejuni/Campylobacter coli/Campylobacter upsaliensis) -Clostridioides difficile toxin A/B -Plesiomonas shigelloides -Salmonella species -Vibrio...
NF1Z - Overview: Neurofibromatosis Type 1, NF1, Full Gene Analysis, Varies
Evaluating patients with a personal or family history suggestive of neurofibromatosis type 1 (NF1) Establishing a diagnosis of a NF1 allowing for targeted cancer surveillance based on associated risks Identifying genetic variants...
GNPLT - Overview: Platelet Disorders, Comprehensive Gene Panel, Next-Generation Sequencing, Varies
Evaluating hereditary platelet disorders in patients with a personal or family history suggestive of a hereditary platelet disorder Diagnosing hereditary platelet disorders for patients in whom phenotypic testing is nondiagnostic, but...
PANGP - Overview: Expanded Pancreatitis Gene Panel, Varies
Confirmation of suspected clinical diagnosis of familial or hereditary pancreatitis in patients with chronic pancreatitis Identification of gene variants contributing to pancreatitis in an individual or family Identification of gene...
CASRG - Overview: CASR Full Gene Sequencing with Deletion/Duplication, Varies
Providing a genetic evaluation of individuals with a personal or family history of familial hypocalciuric hypercalcemia, neonatal severe primary hyperparathyroidism, or autosomal dominant hypoparathyroidism (autosomal dominant...
MMAGP - Overview: Methylmalonic Aciduria Gene Panel, Varies
Follow up for abnormal biochemical results suggestive of a methylmalonic acidemia (MMA) Establishing a molecular diagnosis for patients with MMA Identifying variants within genes known to be associated with MMA, allowing for predictive...
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...
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...
AECDP - Overview: Angioedema and Complement Disorders Gene Panel, Varies
Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of an inherited complement disorder, including complement deficiency Providing a comprehensive genetic evaluation for patients with a...
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...
NSRGG - Overview: Noonan Syndrome and Related Conditions Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of Noonan syndrome, Noonan syndrome with multiple lentigines, Noonan syndrome with loose anagen hair, cardiofaciocutaneous syndrome, Costello syndrome,...
PHCGD - Overview: Phagocytic Disorders and Chronic Granulomatous Disease Gene Panel, Varies
Providing a comprehensive genetic evaluation for patients with a personal or family history of chronic granulomatous disease, Papillon-Lefevre syndrome, specific granule deficiency, leukocyte adhesion deficiency, or other phagocytic...
CSFME - Overview: Meningitis/Encephalitis Pathogen Panel, PCR, Spinal Fluid
Rapid detection of meningitis and encephalitis caused by: -Escherichia coli K1 (K1 serotype only) -Haemophilus influenzae -Listeria monocytogenes -Neisseria meningitidis (encapsulated strains only) -Streptococcus agalactiae (Group B...
WGSR - Overview: Whole Genome Sequencing Reanalysis, Varies
Identifying a diagnosis or additional variants associated with the phenotype in patients who previously have had a negative or inconclusive whole genome sequencing test Reanalyzing whole genome sequencing data when a patient (proband)...
HPGLP - Overview: Hereditary Paraganglioma/Pheochromocytoma Panel, Varies
Evaluating patients with a personal or family history suggestive of a hereditary paraganglioma and pheochromocytoma (PGL/PCC) syndrome Establishing a diagnosis of a hereditary PGL/PCC, allowing for targeted surveillance based on...
BCELL - Overview: B-Cell and Antibody Deficiency Gene Panel, Varies
Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of an inherited primary B-cell disorder or humoral immunodeficiency Establishing a diagnosis of a primary B-cell disorder or humoral...
AUTOG - Overview: Autoinflammatory Disorders Gene Panel, Varies
Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of an inherited autoinflammatory disorder Establishing a diagnosis of a monogenic autoinflammatory disorder, allowing for appropriate...
CMMPP - Overview: Cobalamin, Methionine, and Methylmalonic Acid Pathways, Plasma
Screening and monitoring patients suspected of or confirmed with an inherited disorder of methionine, cobalamin, or propionate metabolism using plasma specimens Evaluating individuals with suspected deficiency of vitamin B12
WESPR - Overview: Panel to Whole Exome Sequencing Reflex Test, Varies
Serving as a second-tier test for patients in whom previous genetic testing was negative or inconclusive Identifying causative variants in genes that were not included on panel testing which can allow for: -Better understanding of the...
CMMPS - Overview: Cobalamin, Methionine, and Methylmalonic Acid Pathways, Serum
Screening and monitoring patients suspected of or confirmed with an inherited disorder of methionine, cobalamin, or propionate metabolism using serum specimens Evaluating individuals with suspected deficiency of vitamin B12
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...
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...
EOIBD - Overview: Early Onset Monogenic Inflammatory Bowel Disease (IBD) Gene Panel, Varies
Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of an inherited inflammatory bowel disorder Establishing a diagnosis of a monogenic early onset inflammatory bowel disease, allowing...
MAC1 - Overview: Myelopathy, Autoimmune/Paraneoplastic Evaluation, Spinal Fluid
Evaluating patients with suspected autoimmune myelopathy, myelitis, and paraneoplastic myelopathy using spinal fluid specimens
EPC2 - Overview: Epilepsy, Autoimmune/Paraneoplastic Evaluation, Spinal Fluid
Investigating new onset cryptogenic epilepsy with incomplete seizure control and duration of fewer than 2 years using spinal fluid specimens Investigating new onset cryptogenic epilepsy plus 1 or more of the following...
MAS1 - Overview: Myelopathy, Autoimmune/Paraneoplastic Evaluation, Serum
Evaluating patients with suspected autoimmune myelopathy, myelitis, and paraneoplastic myelopathy using serum specimens
BMFGP - Overview: Inherited Bone Marrow Failure Gene Panel, Varies
Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of a hereditary bone marrow failure syndrome Establishing a diagnosis of a hereditary bone marrow failure syndrome associated with known...
CRDPP - Overview: Creatine Disorders Panel, Plasma
Evaluating patients with a clinical suspicion of arginine:glycine amidinotransferase deficiency, guanidinoacetate methyltransferase deficiency, and creatine transporter deficiency using plasma specimens
COMID - Overview: Combined Humoral and Cell-Mediated Immunodeficiency Gene Panel, Varies
Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of a hereditary combined humoral and cell-mediated immunodeficiency (CID) Establishing a diagnosis of a combined immunodeficiency...
HAEV1 - Overview: Hemolytic Anemia Evaluation, Blood
Evaluation of lifelong or inherited hemolytic anemias, including red blood cell membrane disorders, unstable or abnormal hemoglobin variants, and red blood cell enzyme disorders This evaluation is not suitable for acquired causes of...
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,...
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...
CRDPS - Overview: Creatine Disorders Panel, Serum
Evaluating patients with a clinical suspicion of arginine:glycine amidinotransferase deficiency,guanidinoacetate methyltransferase deficiency, and creatine transporter deficiency using serum specimens
MDS2 - Overview: Movement Disorder, Autoimmune/Paraneoplastic Evaluation, Serum
Evaluating patients with suspected paraneoplastic or other autoimmune movement disorders including patients with ataxia, brainstem encephalitis, chorea, dyskinesias, myoclonus, and parkinsonism using serum specimens
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
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...
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,...