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

Modifications  and Relative information

Test code: 2670

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CURRENT   Relative information

TECHNIQUE: DNA extraction of the sample received. Applying the MLPA technique (Multiplex Ligation-dependent Probe Amplification) which allows quantitative detection of duplications and deletions covering the HBA gene and flanking regions. Limitation: MLPA technique does not allow the detection of point mutations, inversions, and translocations.

TECHNIQUE:  DNA extraction and PCR amplification for the detection of the following mutations: -a3.7, -a4.2, - (a) 20.5, -MED, -Be, -Thai, -Phil, a1 cd 14 (G> A), a1 cd 59 (G> A Hb Adana), anti aaa -3.7, a2 init. cd (ATG> ACG), a2 cd 19 (-G), a2 IVS1 (it deleció 5 bp), a2 cd 59 (G> A), A2cd 125 (T> C Hb Quong Sze), 142 cd a2 (T> C Hb Constant Spring), 142 cd a2 (T> A Hb Icaria), 142 cd a2 (A> T Hb Pakse), 142 cd a2 (A> C Hb Koya Dora), a2 polyA-1 (Saudi tipus AATAAA> AATAAG) a2 polyA-2 (tipus turc AATAAA> AATGAA). - The change is an improvement in the detection of deletions and point mutations, relative to previous methodology. THIS CHANGE IS EFFECTIVE IN THE SAMPLES RECEIVED since 3/11/2014.

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