Test Catalog Search Results
CMPRG - Overview: Family Member Comparator Specimen for Genome Sequencing, Varies
Submitting a biological family member's specimen to be used as a comparator for affected patients (probands) undergoing whole genome sequencing
Establishing a molecular diagnosis for patients with limb-girdle muscular dystrophy or congenital myasthenic syndrome Identifying variants within genes known to be associated with limb-girdle muscular dystrophy or congenital myasthenic...
ISPP - Overview: Inherited Spastic Paraplegia Gene Panel, Varies
Establishing a molecular diagnosis for patients with hereditary spastic paraplegia Identifying variants within genes known to be associated with hereditary spastic paraplegia, allowing for predictive testing of at-risk family members
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
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...
ATAXP - Overview: Inherited Ataxia Gene Panel, Varies
Establishing a molecular diagnosis for patients with ataxia Identifying variants within genes known to be associated with ataxia, allowing for predictive testing of at-risk family members
CFSMN - Overview: Cystic Fibrosis and Spinal Muscular Atrophy Carrier Screen Panel, Varies
Reproductive risk refinement via carrier screening for individuals in the general population for cystic fibrosis (CF) and spinal muscular atrophy (SMA). Reproductive risk refinement via carrier screening for individuals with a family...
CDS1 - Overview: CNS Demyelinating Disease Evaluation, Serum
Diagnosis of inflammatory demyelinating diseases (IDDs) with similar phenotype to neuromyelitis optica spectrum disorder (NMOSD), including optic neuritis (single or bilateral) and transverse myelitis Diagnosis of autoimmune myelin...
CGAK - Overview: Chromogranin A, Serum
Aiding in monitoring disease progression during the course of disease and treatment in patients with gastroenteropancreatic neuroendocrine tumors (grade 1 and grade 2) when used in conjunction with other clinical methods This test is not...
PHEGP - Overview: Phenylalanine Disorders Gene Panel, Varies
Follow up for abnormal biochemical results suggestive of a phenylalanine disorder Establishing a molecular diagnosis for patients with phenylalanine disorders Identifying variants within genes known to be associated with phenylalanine...
PDGP - Overview: Peroxisomal Disorder Gene Panel, Varies
Follow up of abnormal biochemical result, usually very long-chain fatty acid test consistent with peroxisomal disorder Establishing a molecular diagnosis for patients with peroxisomal disorders Identifying variants within genes known to...
MPAGP - Overview: Methylmalonic Aciduria-Propionic Aciduria Combined Gene Panel, Varies
Follow up for abnormal biochemical results suggestive of methylmalonic acidemia or propionic acidemia Establishing a molecular diagnosis for patients with methylmalonic acidemia or propionic acidemia Identifying variants within genes...
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...
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...
Predicting potential for toxicity to thiopurine drugs (6-mercaptopurine, 6-thioguanine, and azathioprine)
AGDD - Overview: Alpha Globin Cluster Locus Deletion/Duplication, Varies
Diagnosis of alpha-thalassemia Carrier screening for individuals from high-risk populations for alpha-thalassemia This test is not useful for diagnosis or confirmation of beta-thalassemia or hemoglobinopathies.
CYSGP - Overview: Cystinuria Gene Panel, Varies
Follow up for abnormal biochemical results suggestive of cystinuria Establishing a molecular diagnosis for patients with cystinuria Identifying variants within genes known to be associated with cystinuria, allowing for predictive testing...
HFAOP - Overview: Fatty Acid Oxidation Gene Panel, Varies
Follow up for abnormal biochemical results suggestive of a fatty acid oxidation disorder Establishing a molecular diagnosis for patients with a fatty acid oxidation disorder Identifying variants within genes known to be associated with a...
GSDGP - Overview: Glycogen Storage Disease Gene Panel, Varies
Follow up of abnormal biochemical results consistent with glycogen storage disease (GSD) Establishing a molecular diagnosis for patients with GSD Identifying variants within genes known to be associated with GSD allowing for predictive...
LIPOG - Overview: Lipodystrophy Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of a hereditary lipodystrophy Establishing a diagnosis of a hereditary lipodystrophy
KETGP - Overview: Ketone Disorders Gene Panel, Varies
Follow up for abnormal biochemical results suggestive of a ketone disorder Establishing a molecular diagnosis for patients with ketone disorders Identifying variants within genes known to be associated with ketone disorders, allowing for...
2OHGP - Overview: 2-Hydroxyglutaric Aciduria Gene Panel, Varies
Follow up for abnormal biochemical results suggestive of 2-hydroxyglutaric aciduria Establishing a molecular diagnosis for patients with 2-hydroxyglutaric aciduria Identifying variants within genes known to be associated with...
IMSNP - Overview: Inherited Motor and Sensory Neuropathy Gene Panel, Varies
Establishing a molecular diagnosis for patients with hereditary motor and sensory neuropathy (HMSN) or Charcot-Marie-Tooth (CMT) disease Identifying variants within genes known to be associated with HMSN or CMT disease, allowing for...
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 Assisting in the management of patients with complex medication regimens
BWRS - Overview: Beckwith-Wiedemann Syndrome/Russell-Silver Syndrome, Molecular Analysis, Varies
Confirming a clinical diagnosis of Beckwith-Wiedemann syndrome (BWS) or Russell-Silver syndrome (RSS) Prenatal diagnosis if there is a high suspicion of BWS/RSS based on ultrasound findings or in families at risk for BWS/RSS This assay...
ADEVL - Overview: Alzheimer Disease Evaluation, Spinal Fluid
Assessment of adults with cognitive impairment being evaluated for Alzheimer disease and other causes of cognitive impairment These assays should not be used to predict the development of dementia or other neurologic conditions or to...
PEPAN - Overview: Comprehensive Peripheral Neuropathy Gene Panel, Varies
Establishing a molecular diagnosis for patients with peripheral neuropathy Identifying variants within genes known to be associated with peripheral neuropathy, allowing for predictive testing of at-risk family members
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...
MUPAN - Overview: Comprehensive Neuromuscular Gene Panel, Varies
Establishing a molecular diagnosis for patients with a neuromuscular disorder Identifying variants within genes known to be associated with neuromuscular disorders allowing for predictive testing of at-risk family members
PSYQP - Overview: Psychotropic Pharmacogenomics Gene Panel, Varies
Individualizing selection and dosage of medications prescribed for treatment of depression and other psychiatric disorders based on genetic variation Identifying genetic variation in genes known to be associated with response and/or risk...
PCGP - Overview: Porphyria Comprehensive Gene Panel, Varies
Follow up for abnormal biochemical results suggestive of porphyria Establishing a molecular diagnosis for patients with porphyria Identifying variants within genes known to be associated with porphyria, allowing for predictive testing of...
CDGGP - Overview: Congenital Disorders of Glycosylation Gene Panel, Varies
Establishing a molecular diagnosis for patients with congenital disorders of glycosylation Identifying variants within genes known to be associated with congenital disorders of glycosylation, allowing for predictive testing of at-risk...
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...
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...
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...
PCDEC - Overview: Pediatric Autoimmune Encephalopathy/CNS Disorder Evaluation, Spinal Fluid
Evaluating children with autoimmune central nervous system disorders using spinal fluid specimens
PCDES - Overview: Pediatric Autoimmune Encephalopathy/CNS Disorder Evaluation, Serum
Evaluating children with autoimmune central nervous system disorders using serum specimens