Test Catalog Search Results
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HPANP - Overview: Hereditary Pancreatitis Gene Panel, Varies
Confirming a suspected clinical diagnosis of familial or hereditary pancreatitis in patients with chronic pancreatitis Identifying gene variants contributing to pancreatitis in an individual or family Identifying gene variants to allow...
RABMP - Overview: Inherited Rhabdomyolysis and Metabolic Myopathy Panel, Varies
Establishing a molecular diagnosis for patients with rhabdomyolysis and metabolic myopathy Identifying variants within genes known to be associated with rhabdomyolysis and metabolic myopathy, allowing for predictive testing of at-risk...
CRCGP - Overview: Hereditary Gastrointestinal Cancer Panel, Varies
Evaluating patients with a personal or family history suggestive of a hereditary gastrointestinal cancer or hereditary polyposis syndrome Establishing a diagnosis of a hereditary gastrointestinal cancer syndrome or hereditary polyposis...
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...
IMNP - Overview: Inherited Motor Neuropathy Gene Panel, Varies
Establishing a molecular diagnosis for patients with distal hereditary motor neuropathy (dHMN) Identifying variants within genes known to be associated with dHMN, allowing for predictive testing of at-risk family members
WESR - Overview: Whole Exome Sequencing Reanalysis, Varies
Identifying a diagnosis or additional variants associated with the phenotype in patients who previously have had a negative or inconclusive whole exome sequencing test Reanalyzing whole exome sequencing data when a patient (proband)...
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...
UGTFZ - Overview: UDP-Glucuronosyltransferase 1A1 (UGT1A1), Full Gene Sequencing, Varies
Establishing a diagnosis of Crigler-Najjar syndrome type I or type II and the trait of Gilbert syndrome Establishing carrier status for Crigler-Najjar syndrome type I or type II Identifying individuals who are at risk of...
Identifying individuals who are at increased risk of adverse drug reactions with drugs that are metabolized by uridine diphosphate glucuronosyltransferase (UGT1A1); especially irinotecan but also atazanavir, nilotinib, pazopanib, and...
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...
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)...
Confirmation of diagnosis of very long-chain acyl-CoA dehydrogenase deficiency as a follow-up to biochemical analyses.
Confirmation of diagnosis of X-linked adrenoleukodystrophy as a follow-up to biochemical analyses
WARSQ - Overview: Warfarin Response Genotype, Varies
Identifying patients who may require warfarin dosing adjustments(3,4) including: -Patients being started on a first prescription for warfarin -Patients who have previously been prescribed warfarin and have required multiple dosing...
WNDZ - Overview: Wilson Disease, ATP7B Full Gene Sequencing with Deletion/Duplication, Varies
Confirming the diagnosis of Wilson disease
VHLZZ - Overview: Von Hippel Lindau Syndrome, VHL, Full Gene Analysis, Varies
Evaluating patients with a personal or family history suggestive of Von Hippel-Lindau (VHL) syndrome Establishing a diagnosis of a VHL allowing for targeted cancer surveillance based on associated risks Identifying genetic variants...
HFET - Overview: Hereditary Hemochromatosis, HFE Variant Analysis, Varies
Establishing or confirming the clinical diagnosis of hereditary hemochromatosis (HH) in adults Testing of individuals with increased serum transferrin-iron saturation and ferritin Predictive testing of individuals who have a family...
PRS8P - Overview: Hereditary Prostate Cancer Panel, Varies
Evaluating patients with a personal or family history suggestive of a hereditary prostate cancer syndrome Establishing a diagnosis of a hereditary prostate cancer syndrome allowing for targeted cancer surveillance based on associated...
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
HL57R - Overview: HLA-B*57:01 Genotype, Pharmacogenomics, Varies
Identifying individuals with an increased risk of hypersensitivity reactions to abacavir, based on the presence of the human leukocyte antigen HLA-B*57:01 allele Identifying individuals taking pazopanib who have an increased risk of...
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,...
Providing a genetic evaluation for patients with a personal or family history suggestive of hereditary hemorrhagic telangiectasia (HHT), cerebral cavernous malformation (CCM), capillary malformation-arteriovenous malformation syndrome...
GBA - Overview: Gaucher Disease, GBA1 Gene Sequencing with Deletion/Duplication, Varies
Confirmation of diagnosis of Gaucher disease as a follow-up to biochemical analyses
XCP - Overview: Hereditary Expanded Cancer Panel, Varies
Evaluating hereditary cancer in patients with a personal or family history suggestive of a hereditary cancer syndrome using a panel of 87 genes Establishing a diagnosis of a hereditary cancer syndrome allowing for targeted cancer...
COMCP - Overview: Hereditary Common Cancer Panel, Varies
Evaluating hereditary cancer for patients with a personal or family history suggestive of a hereditary cancer syndrome using a panel of 36 genes Establishing a diagnosis of a hereditary cancer syndrome allowing for targeted cancer...
HMEP - Overview: Hemiplegic Migraine With or Without Epilepsy Gene Panel, Varies
Establishing a molecular diagnosis in individuals with hemiplegic migraine Identifying disease-causing variants within genes known to be associated with hemiplegic migraine, allowing for predictive testing of at-risk family members
SMNDX - Overview: Spinal Muscular Atrophy Diagnostic Assay, Deletion/Duplication Analysis, Varies
First-tier newborn screening for spinal muscular atrophy (SMA) Prenatal testing for SMA Diagnostic testing to confirm a suspected diagnosis of SMA
SMNCS - Overview: Spinal Muscular Atrophy Carrier Screening, Deletion/Duplication Analysis, Varies
General population carrier screening for spinal muscular atrophy (SMA) Carrier screening for reproductive partners of known SMA carriers Carrier screening for parents of a child with a known deletion of the survival motor neuron 1 gene...
HEXAN - Overview: Tay-Sachs Disease, HEXA Gene Sequencing with Deletion/Duplication, Varies
Confirmation of diagnosis of Tay-Sachs disease as a follow-up to biochemical analyses
TSCP - Overview: Tuberous Sclerosis Gene Panel, Varies
Establishing a molecular diagnosis in individuals with features of tuberous sclerosis complex (TSC). Identifying pathogenic variants within the TSC1 and TSC2 genes known to be associated with TSC, allowing for predictive testing of at-risk...
SOD1Z - Overview: SOD1 Gene, Full Gene Analysis, Varies
Establishing a molecular diagnosis for patients with amyotrophic lateral sclerosis (ALS) Identifying variants within SOD1 known to be associated with ALS, allowing for predictive testing of at-risk family members
UCDP - Overview: Urea Cycle Disorders Gene Panel, Varies
Follow up for abnormal biochemical results suggestive of a urea cycle disorder (UCD) Establishing a molecular diagnosis for patients with a UCD Identifying variants within genes known to be associated with UCD, allowing for predictive...
TTRZ - Overview: TTR Gene, Full Gene Analysis, Varies
Establishing a molecular diagnosis for patients with amyloidosis Identifying variants within TTR known to be associated with amyloidosis, allowing for predictive testing of at-risk family members
Predicting potential for toxicity to thiopurine drugs (6-mercaptopurine, 6-thioguanine, and azathioprine)
TYRGP - Overview: Tyrosine Disorders Gene Panel, Varies
Follow up for abnormal biochemical results suggestive of a tyrosine disorder Establishing a molecular diagnosis for patients with tyrosine disorders Identifying variants within genes known to be associated with tyrosine disorders,...
TEMZS - Overview: Temazepam and Oxazepam, Serum
Assessing compliance Monitoring for appropriate therapeutic level Assessing temazepam toxicity
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...
GLA - Overview: Fabry Disease, GLA Gene Sequencing with Deletion/Duplication, Varies
Confirmation of a diagnosis of classic or variant Fabry disease in affected male patients with reduced alpha-galactosidase A enzyme activity Carrier or diagnostic testing for asymptomatic or symptomatic female patients, respectively
BRBPS - Overview: Broad Range Bacterial PCR and Sequencing, Varies
Detecting and identifying bacteria (including mycobacteria) from normally sterile sources, including synovial fluid; body fluids such as pleural, peritoneal, and pericardial fluids, cerebrospinal fluid; and both fresh and formalin-fixed...
USPF - Overview: USP6 (17p13), Aneurysmal Bone Cyst and Nodular Fasciitis, FISH, Tissue
Identifying USP6 gene rearrangements Supporting the diagnosis of aneurysmal bone cyst or nodular fasciitis when coordinated with an anatomic pathology consultation
Supporting the diagnosis of alveolar rhabdomyosarcomas when used in conjunction with an anatomic pathology consultation
Immunoglobulin G (IgG) Heavy and Light Chain (HLC) Pairs, Kappa and Lambda with Ratio
FURA - Overview: Uranium, Urine
Uranium, Urine
FCLPD - Overview: Chromosome Analysis, CLL/LPD
Chromosome Analysis, CLL/LPD
RENCP - Overview: Hereditary Renal Cancer Panel, Varies
Evaluating patients with a personal or family history suggestive of a hereditary renal cancer syndrome Establishing a diagnosis of a hereditary renal cancer syndrome allowing for targeted cancer surveillance based on associated risks...
ENDCP - Overview: Hereditary Endocrine Cancer Panel, Varies
Evaluating patients with a personal or family history suggestive of a hereditary endocrine tumor syndrome Establishing a diagnosis of a hereditary endocrine tumor syndrome, allowing for targeted surveillance based on associated risks...
WILMP - Overview: Hereditary Wilms Tumor Panel, Varies
Evaluating isolated and syndromic causes of Wilms tumor Establishing a diagnosis to guide management for individuals with Wilms tumor Identifying a familial variant allowing for predictive testing and appropriate screening of at-risk...
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...
LSDGP - Overview: Lysosomal Storage Disease Gene Panel, Varies
Follow up for abnormal biochemical results and confirmation of suspected lysosomal storage disease (LSD) Establishing a molecular diagnosis for patients with LSD Identifying variants within genes known to be associated with LSD, allowing...
Confirmation of diagnosis of medium-chain acyl-CoA dehydrogenase deficiency as a follow-up to biochemical analyses