Beta-Thalassemia/Hemoglobin SS Sequencing

The alpha and beta loci determine the structure of the 2 types of polypeptide chains in adult hemoglobin, Hb A. Mutant beta globin that sickles causes sickle cell anemia. Absence of beta chain causes beta-zero-thalassemia. Reduced amounts of detectable beta globin causes beta-plus-thalassemia.

Patients with thalassemia present in the first year of life with severe anemia; they are unable to maintain a hemoglobin level about 5 gm/dl.

Methodology: Sequencing of entire coding region

Purpose: Confirmation of Clinical Diagnosis

ICD-9 Code 282.44

Test Requisition: Sequencing Requisition

CPT Codes: 81404 Cost: $468.00

Turn-around-time: 3-4 weeks