Test Catalog Search Results

PBALP - Overview: Porphobilinogen and Aminolevulinic Acid, Plasma

An equivalent option to urine for first-line test for evaluation of a suspected acute porphyria Monitoring patients undergoing treatment for an acute intermittent porphyria or other acute porphyria

7AC4 - Overview: 7AC4, Bile Acid Synthesis, Serum

Screening for bile acid malabsorption in patients with irritable bowel syndrome with diarrhea

GSH - Overview: Glutathione, Blood

Evaluation of neonatal hyperbilirubinemia, favism or chronic or episodic hemolysis or jaundice Evaluation for gamma-glutamylcysteine synthetase deficiency Evaluation for glutathione synthetase deficiency causing hemolytic anemia...

WAGDR - Overview: Alpha Globin Cluster Locus Deletion/Duplication, Blood

Diagnosis of alpha-thalassemia Carrier screening for individuals from high-risk populations for alpha-thalassemia This test is not useful for diagnosis or confirmation of beta-thalassemia or hemoglobinopathies.

JAK2B - Overview: JAK2 V617F Mutation Detection, Blood

Aiding in the distinction between a reactive blood cytosis and a chronic myeloproliferative disorder using peripheral blood specimens

BTDZ - Overview: Biotinidase Deficiency, BTD Full Gene Analysis, Varies

Second-tier test for confirming biotinidase deficiency (indicated by biochemical testing or newborn screening) Carrier testing of individuals with a family history of biotinidase deficiency, but disease-causing mutations have not been...

ARSBW - Overview: Arylsulfatase B, Leukocytes

Supporting the biochemical diagnosis of mucopolysaccharidosis type VI (MPS VI, Maroteaux-Lamy syndrome) in whole blood specimens This test is not useful for carrier detection.

TPBF - Overview: Protein, Total, Body Fluid

Identification of exudative pleural effusions Differentiating hepatic from other causes of ascites that have elevated serum ascites albumin gradient using peritoneal fluid

VWAG - Overview: von Willebrand Factor Antigen, Plasma

Diagnosis of von Willebrand disease (VWD) and differentiation of VWD subtype (in conjunction with von Willebrand factor ristocetin cofactor activity and factor VIII coagulant activity) Differentiation of VWD from hemophilia A (in...