PMS2 - Overview: PMS2 Immunostain, Technical Component Only

Identifying patients at high risk for having hereditary nonpolyposis colorectal cancer, also known as Lynch syndrome, in an immunopanel including PMS2 and other mismatch repair markers Evaluation of tumor tissue to identify patients at...

PD2T - Overview: Pompe Disease Second-Tier Newborn Screening, Blood Spot

Second-tier testing of newborns with an abnormal primary screening result for Pompe disease (decreased acid alpha-glucosidase enzyme activity) Follow-up testing for evaluation of an abnormal newborn screening result for Pompe disease

FQPPS - Overview: Porphyrins, Feces

Evaluation of patients who present with signs or symptoms suggestive of porphyria cutanea tarda, hereditary coproporphyria, variegate porphyria, congenital erythropoietic porphyria, erythropoietic protoporphyria, or X-linked dominant...

TLPDF - Overview: T-Cell Lymphoma, Diagnostic FISH, Varies

Detecting, at diagnosis, common chromosome abnormalities associated with specific T-cell lymphoma subtypes using a laboratory-designated probe set algorithm

A1AF - Overview: Alpha-1-Antitrypsin, Random, Feces

Diagnosing protein-losing enteropathies, especially when used in conjunction with serum alpha-1-antitrypsin (AAT) levels as a part of AAT clearance studies

AKC - Overview: Adenylate Kinase Enzyme Activity, Blood

Assessment of adenylate kinase activity as part of the evaluation of chronic nonspherocytic hemolytic anemia

AAT - Overview: Alpha-1-Antitrypsin, Serum

Workup of individuals with suspected disorders such as familial chronic obstructive lung disease Diagnosing alpha-1-antitrypsin deficiency

GAAWR - Overview: Acid Alpha-Glucosidase Reflex, Leukocytes

Diagnosis of Pompe disease as a confirmatory reflex of the 6-enzyme panel

A2PI - Overview: Alpha-2 Plasmin Inhibitor, Plasma

Diagnosing congenital alpha-2 plasmin inhibitor deficiencies (rare) Providing a complete assessment of disseminated intravascular coagulation, intravascular coagulation and fibrinolysis, or hyperfibrinolysis (primary fibrinolysis), when...

APBTS - Overview: Adaptor Protein 3 Beta2 (AP3B2) Antibody, Tissue Immunofluorescence Titer, Serum

The differential diagnosis of patients presenting with mixed cerebellar and sensory ataxia and myeloneuropathy Reporting an end titer result from serum specimens