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...

UGTFZ - Overview: UDP-Glucuronosyltransferase 1A1 (UGT1A1), Full Gene Sequencing, Varies

Establishing a diagnosis of Crigler-Najjar syndrome type I or type II and the trait of Gilbert syndrome Establishing carrier status for Crigler-Najjar syndrome type I or type II Identifying individuals who are at risk of...

ALBFL - Overview: Albumin, Body Fluid

Aiding in identifying the cause of ascites Aiding in differentiating exudative and transudative pleural effusions

CUT - Overview: Copper, Liver Tissue

Diagnosing Wilson disease and primary biliary cirrhosis using liver tissue specimens

PLP - Overview: Pyridoxal 5-Phosphate, Plasma

Determining vitamin B6 status, including in persons who present with progressive nerve compression disorders, such as carpal tunnel and tarsal tunnel syndromes Determining the overall success of a vitamin B6 supplementation...

B6PRO - Overview: Vitamin B6 Profile (Pyridoxal 5-Phosphate and Pyridoxic Acid), Plasma

Determining vitamin B6 status, including in persons who present with progressive nerve compression disorders, such as carpal tunnel and tarsal tunnel syndromes Determining the overall success of a vitamin B6 supplementation program...

AGAW - Overview: Alpha-Galactosidase, Leukocytes

Diagnosis of Fabry disease in male patients Verifying abnormal serum alpha-galactosidase results in male patients with a clinical presentation suggestive of Fabry disease This test is not useful for patients undergoing a work-up for a...

CMVPV - Overview: Cytomegalovirus (CMV) Molecular Detection, PCR, Varies

Rapid qualitative detection of cytomegalovirus (CMV) DNA This test is not intended for the monitoring of CMV disease progression.

DPYDZ - Overview: Dihydropyrimidine Dehydrogenase, DPYD Full Gene Sequencing, Varies

Identifying individuals at increased risk of toxicity when considering 5-fluorouracil and capecitabine chemotherapy treatment Identifying common and rare variants associated with decreased or absent dihydropyrimidine dehydrogenase (DPD)...

GPSY - Overview: Glucopsychosine, Blood Spot

Second-tier test when newborn screening results with reduced beta-glucosidase (GBA) activity are identified Diagnosis and monitoring of patients with Gaucher disease using dried blood spot specimens Monitoring a patient's response to...