MCSMP - Overview: MayoComplete Sarcoma Mutation Panel, Next-Generation Sequencing, Tumor

Primarily for identifying mutations that help in the diagnosis of specific soft tissue and bone tumors (sarcoma) Secondarily for identifying mutations that have therapeutic or prognostic significance Assessing microsatellite instability...

HCCAD - Overview: Hepatitis C Virus Antibody Screen, Cadaveric or Hemolyzed Specimens, Asymptomatic, Serum

Screening cadaveric or hemolyzed serum specimens for hepatitis C virus (HCV) infection in asymptomatic individuals with or without risk factors for HCV infection Note: In accordance with National Coverage Determination guidance, this test...

FLI1 - Overview: FLI-1 Immunostain, Technical Component Only

Aiding in phenotyping endothelial-derived tumors, Ewing sarcoma, Merkel cell carcinoma, lung adenocarcinoma, melanoma, and erythroleukemia

WGSEQ - Overview: Gamma-Globin Full Gene Sequencing, Varies

An adjunct in the interpretation of hemoglobin electrophoresis results Evaluation for suspected gamma variants or nondeletional hereditary persistence of fetal hemoglobin Assessment of unstable gamma chain variants when other tests for...

GALCR - Overview: Galactocerebrosidase Reflex, Leukocytes

Diagnosis of Krabbe disease as a confirmatory reflex of the six-enzyme panel Follow-up testing for evaluation of an abnormal newborn screening result for Krabbe disease This test is not recommended for carrier detection because of the...

WBDD - Overview: Beta-Globin Cluster Locus, Deletion/Duplication, Varies

Determining the etiology of hereditary persistence of fetal hemoglobin (HPFH) or delta-beta thalassemia Diagnosing less common causes of beta thalassemia; these large deletional beta thalassemia variants result in elevated hemoglobin (Hb)...

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...