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...
LUCHM - Overview: LiquidHALLMARK ctDNA and ctRNA
As an alternative to invasive tissue biopsies to assist in tumor profiling for diagnosis, predicting prognosis, and identifying targeted therapies for the treatment and management of patients with a solid tumor This test is not useful for...
MCLNG - Overview: MayoComplete Lung Cancer-Targeted Gene Panel with Rearrangement, Tumor
Diagnosis and management of patients with lung cancer Assessing microsatellite instability
MITOP - Overview: Mitochondrial Full Genome Analysis, Next-Generation Sequencing (NGS), Varies
Diagnosis of the subset of mitochondrial diseases that results from variants in the mitochondrial genome A second-tier test for patients in whom previous targeted gene variant analyses for specific mitochondrial disease-related genes were...
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...
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...
PMAOG - Overview: Postmortem Aortopathy Gene Panel, Tissue
Providing a comprehensive postmortem genetic evaluation in the setting of a sudden death attributed to thoracic aortic dissection or with a personal or family history suggestive of Marfan syndrome, Loeys-Dietz syndrome, thoracic aortic...
RPDE - Overview: Rapidly Progressive Dementia Evaluation, Spinal Fluid
Evaluation of individuals presenting with rapidly progressive dementia of uncertain disease etiology and a differential diagnosis of Creutzfeldt-Jakob disease and rapidly progressive Alzheimer disease
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...