HEXBZ - Overview: Sandhoff Disease, HEXB Gene, Full Gene Analysis, Varies

Follow up for abnormal biochemical results suggestive of Sandhoff disease Establishing a molecular diagnosis for patients with Sandhoff disease Identifying variants within genes known to be associated with Sandhoff disease, allowing for...

SPPS - Overview: Stiff-Person Spectrum Disorders Evaluation, including Progressive Encephalomyelitis with Rigidity and Myoclonus, Serum

Evaluating patients with suspected stiff-person syndrome (classical or focal forms, such as stiff-limb or stiff-trunk) and progressive encephalomyelitis with rigidity and myoclonus using serum specimens

PMCAG - Overview: Postmortem Cardiomyopathy and Arrhythmia Gene Panel, Tissue

Providing a comprehensive postmortem genetic evaluation in the setting of a sudden death attributed to cardiomyopathy or suspicious for cardiac arrhythmia or with a personal or family history suggestive of a hereditary form of...

BRBPS - Overview: Broad Range Bacterial PCR and Sequencing, Varies

Detecting and identifying bacteria (including mycobacteria) from normally sterile sources, including synovial fluid; body fluids such as pleural, peritoneal, and pericardial fluids, cerebrospinal fluid; and both fresh and formalin-fixed...

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...

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 for...

SCIDP - Overview: Severe Combined Immunodeficiency (SCID) Gene Panel, Varies

Establishing a diagnosis of a severe combined immunodeficiency (SCID) associated with known causal genes Identifying variants within genes known to be associated with SCID, allowing for predictive testing of at-risk family members and/or...

ASMW - Overview: Acid Sphingomyelinase, Leukocytes

Investigation of possible diagnosis of Niemann-Pick disease types A and B This test is not recommended for carrier detection because of the wide range of enzymatic activities observed in carriers and noncarriers.

AH50 - Overview: Alternative Complement Pathway, Functional, Serum

Investigation of suspected alternative pathway complement deficiency, atypical hemolytic uremic syndrome, C3 glomerulonephritis, and dense-deposit disease

ALADW - Overview: Aminolevulinic Acid Dehydratase, Washed Erythrocytes

Confirmation of a diagnosis of aminolevulinic acid dehydratase deficiency porphyria using washed erythrocyte specimens This test is not useful for detecting lead intoxication.