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...

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...

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...

BTKSG - Overview: Bruton Tyrosine Kinase, BTK Full Gene Analysis, Varies

Confirming a diagnosis of X-linked agammaglobulinemia in patients with a history of recurrent sinopulmonary infections, profound hypogammaglobulinemia, and less than 1% peripheral B cells, with or without abnormal Bruton tyrosine kinase...

MSUDP - Overview: Maple Syrup Urine Disease Gene Panel, Varies

Follow up for abnormal biochemical results suggestive of maple syrup urine disease (MSUD) Establishing a molecular diagnosis for patients with MSUD Identifying variants within genes known to be associated with MSUD, allowing for...

COGMF - Overview: Acute Myeloid Leukemia (AML), Children's Oncology Group Enrollment Testing, FISH, Varies

Evaluation of pediatric bone marrow and peripheral blood specimens by fluorescence in situ hybridization (FISH) probe analysis for classic rearrangements and chromosomal copy number changes associated with acute myeloid leukemia (AML) in...

COGTF - Overview: T-Cell Acute Lymphoblastic Leukemia/Lymphoma (ALL), Children's Oncology Group Enrollment Testing, FISH, Varies

Evaluation of pediatric bone marrow and peripheral blood specimens by fluorescence in situ hybridization probe analysis for classic rearrangements and chromosomal copy number changes associated with T-cell acute lymphoblastic leukemia in...

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...

IMMAU - Overview: Inborn Errors of Immunity with Immune Dysregulation and Autoimmunity Gene Panel, Varies

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of an inborn error of immunity (IEI) associated with immune dysregulation or autoimmunity Establishing a diagnosis of an IEI, allowing...