PRSSZ - Overview: PRSS1 Gene, Full Gene Analysis, Varies
Confirmation of suspected clinical diagnosis of hereditary pancreatitis (HP) in patients with chronic pancreatitis Identification of familial PRSSI mutation to allow for predictive and diagnostic testing in family members
ALBFL - Overview: Albumin, Body Fluid
Aiding in identifying the cause of ascites Aiding in differentiating exudative and transudative pleural effusions
RBPG - Overview: Rubella Antibodies, IgG, Serum
Determining immune status to the rubella virus
HEXAZ - Overview: Tay-Sachs Disease, HEXA Gene, Full Gene Analysis, Varies
Second-tier test for confirming a biochemical diagnosis of Tay-Sachs disease (TSD) Carrier testing of individuals with a family history of TSD but an affected individual is not available for testing or disease-causing mutations have not...
ADMB - Overview: ADAMTS13 Inhibitor Bethesda Titer, Plasma
Assisting with the diagnosis of congenital, immune or acquired thrombotic thrombocytopenic purpura as a part of a profile
ADAMS - Overview: ADAMTS13 Activity Assay, Plasma
Assisting with the diagnosis and monitoring of congenital, immune, or acquired thrombotic thrombocytopenic purpura
MINT - Overview: Molecular Interpretation
Interpretation of the hereditary erythrocytosis profile
PLSD - Overview: Lysosomal and Peroxisomal Disorders Screen, Blood Spot
Evaluation of patients with a clinical presentation suggestive of a lysosomal disorder, specifically Gaucher, infantile neurovisceral or chronic visceral acid sphingomyelinase deficiency,, Pompe, Krabbe, or Fabry disease, or...
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
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