TRYPT - Overview: Tryptase, Serum

Evaluation of individuals with suspected mast cell activation, which may occur as a result of anaphylaxis or allergen challenge Evaluation of patients with suspected mast cell activation syndrome Evaluation of patients with suspected...

MTBT - Overview: Mycobacterium tuberculosis Complex, Molecular Detection, PCR, Paraffin, Tissue

Preferred method for rapid detection of Mycobacterium tuberculosis complex DNA in formalin-fixed, paraffin-embedded tissue specimens Detecting M tuberculosis complex This test is not intended for the detection of latent tuberculosis and...

HPP12 - Overview: HIV-1/HIV-2 RNA Detection Prenatal, Plasma

Diagnosis of HIV-1 and/or HIV-2 infection in pregnant individuals with indeterminate or inconclusive HIV serologic test results Diagnosis of HIV-1 and/or HIV-2 infection in pregnant individuals in the acute or early phase of HIV-1 and/or...

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...

VLCZ - Overview: Very Long Chain Acyl-CoA Dehydrogenase Deficiency, Full Gene Analysis, Varies

Confirmation of a diagnosis of very long chain acyl-CoA dehydrogenase (VLCAD) deficiency Carrier screening in cases where there is a family history of VLCAD deficiency, but an affected individual is not available for testing or...

PKUSC - Overview: Phenylalanine and Tyrosine, Self-Collect, Blood Spot

Monitoring effectiveness of therapy in patients with hyperphenylalaninemia in a patient-collected specimen This test is not sufficient for follow-up for abnormal newborn screening results or for establishing a diagnosis of a specific...

I2SWB - Overview: Iduronate-2-Sulfatase, Leukocytes

Supporting the biochemical diagnosis of mucopolysaccharidosis II (MPS II; Hunter syndrome) in whole blood specimens This test is not useful for carrier detection for MPS II.

HVA - Overview: Homovanillic Acid, 24 Hour, Urine

Screening children for catecholamine-secreting tumors using a 24-hour urine collection when requesting homovanillic acid only Monitoring neuroblastoma treatment Screening patients with possible inborn errors of catecholamine metabolism

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.

BALLM - Overview: B-Cell Lymphoblastic Leukemia Monitoring, Minimal Residual Disease Detection, Flow Cytometry, Varies

Aids in monitoring a previously confirmed diagnosis of B-cell acute lymphoblastic leukemia