MMAGP - Overview: Methylmalonic Aciduria Gene Panel, Varies
Follow up for abnormal biochemical results suggestive of a methylmalonic acidemia Establishing a molecular diagnosis for patients with methylmalonic acidemia Identifying variants within genes known to be associated with methylmalonic...
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...
OIBFG - Overview: Osteogenesis Imperfecta and Bone Fragility Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive osteogenesis imperfecta and other hereditary conditions associated with bone fragility
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...
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...
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...
CHDGG - Overview: Congenital Heart Disease Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history of congenital heart disease Establishing a diagnosis of a genetic condition associated with congenital heart disease
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...
Providing a genetic evaluation for patients with a personal or family history suggestive of atypical hemolytic uremic syndrome (aHUS), thrombotic microangiopathy (TMA), or complement 3 glomerulopathy (C3G) Establishing a diagnosis of...