Alpha-thalassemia, pannel (HBA1/HBA2) screening, whole blood

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

Test code: 2760

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Description:  Alpha-thalassemia, pannel (HBA1/HBA2) screening, whole blood Method:  PCR/Hidridization-reverse Result format: R1 Result                Reference values: TECHNIQUE: DNA extraction and PCR amplification for the detection of the following mutations:       -a3.7, -a4.2, -(a)20.5, -MED, -SEA, -THAI, -FIL, a1 cd 14 (G>A), a1 cd 59 (G>A Hb Adana),aaa anti-3.7, a2 init. cd (ATG>ACG), a2 cd 19 (-G), a2 IVS1 (deleció 5 pb),a2 cd 59 (G>A), a2cd 125 (T>C Hb Quong Sze), a2 cd 142 (T>C Hb Constant Spring), a2 cd 142 (T>A Hb Icaria), a2 cd 142 (A>T Hb Pakse),a2 cd 142(A>C Hb Koya Dora),a2 polyA-1(tipus saudí AATAAA>AATAAG),a2 polyA-2 (tipus turc AATAAA>AATGAA).       * Fuente: PNT, Insert        Delivery term: 20 days             Version of Test: 11

Description:                 ALPHA-THALASSEMIA · HBA1, HBA2  ·  PCR-HYBRIDIZATION                  Method:  PCR-Hybridization Genotyping Result format: R1 Sample R2 Result Reference values:           Interpretation Mutations or deletions in the alpha-globin genes (HBA1 and HBA2) are the genetic cause of alpha-thalassemia, an autosomal recessive inherited hemoglobinopathy characterized by a lack of production or insufficient production of alpha-globin chains, leading to a variable clinical picture depending on the number of affected alleles. 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 21 deletions and point mutations in the alpha-1 (HBA1, reference sequence NM_000558.3) and alpha-2 (HBA2, reference sequence NM_000517.4) hemoglobin subunit genes related to alpha-thalassemia. Variants studied: NG_000006.1: g.34164_37967del3804, -4.2 kb, g.15164_37864del22701, g.24664_41064del16401, g.26264_45564del19301, g.10664_44164del33501, g.11684_43534del31851, Triplication of anti-3.7 genes. HBA1: c.44G>A, c.179G>A. HBA2: c.2T>C, c.60delG, c.95+2_95+6delTGAGG, c.179G>A, c.377T>C, c.427T>C, c.427T>A, c.429A>T, c.428A>C, c.+94A>G, c.+92A>G. 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. This test does not differentiate between heterozygous and homozygous mutations for the anti-3.7 gene triplication (anti-3.7/αα and anti-3.7/anti-3.7). In the presence of large gene deletions not detectable by the assay, single gene deletions (-3.7 or -4.2) and point mutations will appear as homozygous. 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: 12

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