PCDES - Overview: Pediatric Autoimmune Encephalopathy/CNS Disorder Evaluation, Serum

Evaluating children with autoimmune central nervous system disorders using serum specimens

PCDEC - Overview: Pediatric Autoimmune Encephalopathy/CNS Disorder Evaluation, Spinal Fluid

Evaluating children with autoimmune central nervous system disorders using spinal fluid specimens

IABCS - Overview: B-Cell Phenotyping Profile for Immunodeficiency and Immune Competence Assessment, Blood

Screening for common variable immunodeficiency and hyper-IgM syndromes Assessing B-cell subset reconstitution after stem cell or bone marrow transplant Assessing response to B-cell-depleting immunotherapy This test is not indicated...

GNPLT - Overview: Platelet Disorders, Comprehensive Gene Panel, Next-Generation Sequencing, Varies

Evaluating hereditary platelet disorders in patients with a personal or family history suggestive of a hereditary platelet disorder Diagnosing hereditary platelet disorders for patients in whom phenotypic testing is nondiagnostic, but...

CMMPP - Overview: Cobalamin, Methionine, and Methylmalonic Acid Pathways, Plasma

Screening and monitoring patients suspected of or confirmed with an inherited disorder of methionine, cobalamin, or propionate metabolism using plasma specimens Evaluating individuals with suspected deficiency of vitamin B12

CMMPS - Overview: Cobalamin, Methionine, and Methylmalonic Acid Pathways, Serum

Screening and monitoring patients suspected of or confirmed with an inherited disorder of methionine, cobalamin, or propionate metabolism using serum specimens Evaluating individuals with suspected deficiency of vitamin B12