NSRGG - Overview: Noonan Syndrome and Related Conditions Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of Noonan syndrome, Noonan syndrome with multiple lentigines, Noonan syndrome with loose anagen hair, cardiofaciocutaneous syndrome, Costello syndrome,...

PHCGD - Overview: Phagocytic Disorders and Chronic Granulomatous Disease Gene Panel, Varies

Providing a comprehensive genetic evaluation for patients with a personal or family history of chronic granulomatous disease, Papillon-Lefevre syndrome, specific granule deficiency, leukocyte adhesion deficiency, or other phagocytic...

BCELL - Overview: B-Cell and Antibody Deficiency Gene Panel, Varies

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of an inherited primary B-cell disorder or humoral immunodeficiency Establishing a diagnosis of a primary B-cell disorder or humoral...

AUTOG - Overview: Autoinflammatory Disorders Gene Panel, Varies

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of an inherited autoinflammatory disorder Establishing a diagnosis of a monogenic autoinflammatory disorder, allowing for appropriate...

BALAF - Overview: B-Cell Acute Lymphoblastic Leukemia/Lymphoma (ALL), FISH, Adult, Varies

Detecting, at diagnosis, recurrent common chromosome abnormalities associated with B-cell acute lymphoblastic leukemia/lymphoma (B-ALL/LBL) and BCR::ABL1-like B-ALL in adult patients using a laboratory-designated probe set algorithm As an...

COGBF - Overview: B-Cell Acute Lymphoblastic Leukemia/Lymphoma (ALL), Children's Oncology Group Enrollment Testing, FISH, Varies

Detecting, at diagnosis, recurrent common chromosome abnormalities associated with B-cell acute lymphoblastic leukemia/lymphoma (B-ALL) and BCR::ABL1-like acute lymphoblastic leukemia/lymphoma in patients being considered for enrollment in...

NMITO - Overview: Nuclear Mitochondrial Gene Panel, Next-Generation Sequencing, Varies

Diagnosing the subset of mitochondrial disease that results from variants in the nuclear-encoded genes A second-tier test for patients in whom previous targeted gene variant analyses for specific mitochondrial disease-related genes were...

BALFP - Overview: Pediatric B-Lymphoblastic Leukemia/Lymphoma Panel, FISH, Varies

Detecting, at diagnosis, recurrent common chromosome abnormalities associated with B-cell acute lymphoblastic leukemia/lymphoma (B-ALL/LBL) and BCR::ABL1-like B-ALL in pediatric/young adult patients using a laboratory-designated probe set...

BLBLF - Overview: B-Cell Lymphoblastic Leukemia/Lymphoma, FISH, Tissue

Detecting, at diagnosis, recurrent common chromosome abnormalities associated with B-cell acute lymphoblastic leukemia/lymphoma (B-ALL/LBL) and Philadelphia chromosome-like acute lymphoblastic leukemia (Ph-like ALL) in paraffin-embedded...

EOIBD - Overview: Early Onset Monogenic Inflammatory Bowel Disease (IBD) Gene Panel, Varies

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of an inherited inflammatory bowel disorder Establishing a diagnosis of a monogenic early onset inflammatory bowel disease, allowing...

COMID - Overview: Combined Humoral and Cell-Mediated Immunodeficiency Gene Panel, Varies

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of a hereditary combined humoral and cell-mediated immunodeficiency (CID) Establishing a diagnosis of a combined immunodeficiency...

CMITO - Overview: Combined Mitochondrial Full Genome and Nuclear Gene Panel, Varies

Diagnosing mitochondrial disease that results from variants in either nuclear-encoded genes or the mitochondrial genome A second-tier test for patients in whom previous targeted gene variant analyses for specific mitochondrial...

BMFGP - Overview: Inherited Bone Marrow Failure Gene Panel, Varies

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of a hereditary bone marrow failure syndrome Establishing a diagnosis of a hereditary bone marrow failure syndrome associated with known...

IEICP - Overview: Inborn Errors of Immunity Comprehensive Gene Panel, Varies

Providing a comprehensive genetic evaluation for patients with a personal history of an inborn error of immunity (IEI) Establishing a diagnosis of an IEI associated with known causal genes Identifying variants within genes known to be...