Thalassemia and Hemoglobinopathy Evaluation, Blood and Serum

Casandra

Casandra Test Code MC78545Version 1 (DRAFT)

Performing Lab

Lab Mayo Clinic LabLab Test ID THEV1CPT Codes 82664, 82728, 83020, 83021, 83068, 83789, 88184

Thalassemia and Hemoglobinopathy Evaluation, Blood and Serum

Clinical Use

Use

This consultative study is designed for the comprehensive evaluation of microcytosis and detection of almost all known hemoglobin disorders in an economical manner. The test is useful for classifying compound combinations of hemoglobinopathies, thalassemias, hereditary persistence of fetal hemoglobin, and other complex hemoglobin disorders. It helps in evaluating conditions such as sickling disorders, erythrocytosis, cyanosis/hypoxia, long-standing or familial anemia, and cases with autosomal recessive or dominant inheritance patterns of hemoglobinopathies.

Special Instructions

For monitoring treatment with HbA-T87Q, use the Metabolic Hematology Patient Information form. The laboratory requires recent transfusion information and complete blood cell count results for optimal evaluation. Ensure serum is sent only if ferritin testing is intended. If no molecular testing is required, indicate on the provided form to avoid unnecessary tests.

Limitations

Some hemoglobin variants and thalassemia forms might not be detected if DNA probe studies are used as they may not reveal all potential alterations. Molecular confirmation is subject to the availability of adequate sample volume; MLPA requires at least 2 mL in addition to other testing volume needs. The test might not identify all alpha thalassemia types when deletions are involved.

Test Details

New York Approved