BETA-THALASSEMIA SCREENING · HBB · HOT SPOT

Description, Method, Result format, Reference values and Delivery Time Modification

Test code: 3014

Mnemonic code: TALA

Effective update from 14/10/2024

PREVIOUS

NEW

Description: BETA-THALASSEMIA SCREENING · HBB · HOT SPOT Method: Hot Spot Result format:  R1 Result Reference values: TECHNIQUE:       DNA extraction and molecular analysis for the detection of the following mutations:       -101(C>T), -87(C>G), -30(T>A), codón 5 (- CT) , codón 6 (G>A) HbC, codón 6 (A>T) HbS, codón 6 (- A), codón 8 (- AA), codón 8/9 (+G), codón 15 (TGG>TGA), codón 27 (G>T) Knossos, IVS 1.1 (G>A), IVS 1.5 (G>C), IVS 1.6 (T>C), IVS 1.110 (G>A), IVS 1.116 (T>G), IVS 1.130 (G>C), codón 39 (C>T), codón 44 (- C), IVS 2.1 (G>A), IVS 2.745 (C>G), IVS 2.848 (C>A).       The analytical sensitivity of the study is> 95%.       Note: This study discards 90% of the most frequent mutations found in the Mediterranean area. This result does not exclude the presence of other mutations in the gene for beta-globin part of the analyzed. More or less, 10% of patients with clinical features of beta-thalassemia may carry other mutations that are not excluded in this study. When a negative result is observed or with the identification of a single mutation in HBB gene sequence, analysis of the entire coding region is recommended.                    Delivery term: 8 days   Version of Test: 5

Description: BETA-THALASSEMIA · HBB · PCR-HYBRIDIZATION Method:  PCR-hybridization genotyping             Result format:                    R1 Sample R2 Result           Reference values:                   Interpretation Mutations in the beta-globin gene (β-globin) are the genetic cause of beta-thalassemia, an autosomal recessive inherited hemoglobinopathy characterized by a lack of production or insufficient production of hemoglobin A (HbA, alpha-2/beta-2). Due to the reduced synthesis of beta-globin chains relative to alpha-globin chains, an imbalance occurs that disrupts erythropoiesis, resulting in a variable clinical picture depending on the number of affected alleles, making it a clinically heterogeneous disorder. This report should be interpreted by a specialist within the clinical context and family history of the patient, along with other laboratory findings. Genetic counseling is recommended. Methodology DNA extraction followed by amplification using PCR and reverse hybridization (CE-IVD method) for the specific analysis of 22 point mutations in the β-globin gene (HBB, reference sequence NM_000518.5) related to beta-thalassemia. Variants studied: c.-151C>T, c.-137C>G, c.-80T>A, c.17_18delCT, c.19G>A, c.20A>T, c.20delA, c.25_26delAA, c.27_28insG, c.48G>A, c.82G>T, c.92+1G>A, c.92+5G>C, c.92+6T>C, c.93-21G>A, c.93-15T>G, c.93-1G>C, c.118C>T, c.135delC, c.315+1G>A, c.316-106C>G, c.316-3C>A Limitations This study does not analyze other variants beyond those examined. Normal/polymorphic genomic variation in the patient’s sample may interfere with the detection of the variant. References  HbVar database (http://globin.cse.psu.edu/hbvar/menu.html) Puehringer et al. (2007) Clin Chem Lab Med; 45(5):605-10                Delivery term: 10 days             Version of Test: 6

   Find the record of the test by clicking here