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Kazerin P.O.Box 3664, 12900, Israel. Tel:972-4-9007100 irna (111-Fax) Document No. 01-27-01 E Issue Date 15/05/11 Version No. 3 Page 1 of 2 Enache Ioana Diana, 329725, GGA#3703 16/10/2013 To: Dr. Viorica Radoi Romania irna Regarding: Results of sequencing the PLA2G6 gene Subject: Enache Ioana Diana (code: 329725) I.D. No: NA GGA No.: 3703 DNA Source: blood Tested irna Gene and test method: PLA2G6 gene (OMIM: 603604) consists of 17 exons, exons 2-17 are coding. The coding regions were divided into 16 PCR fragments. All coding regions were sequenced by Sanger method, enclosing exon-intron boundaries. Main Scanning Results: Sequence analysis of PLA2G6 coding regions identified sequence alteration (mutation) in exon 4: c.533_536delAGAT, p.Q178RfsX35, a homozygote 4 nucleotide deletion which results in amino acid substitution of Glutamine with Arginine at position 178, a frame shift of the ORF and a stop codon formation 35 aa after. We did not find any reference regarding this mutation in the literature. irna Additional Information: A polymorphic change was identified in intron 5: c.797+43C>T = rs12329956, in a homozygote state. Each sequence alteration detected was characterized as a polymorphism or mutation by the Almunt Software (V.2) and the National Center for Biotechnology Information ( http://www.ncbi.nlm.nih.gov/ ). According to the literature and to the best of our knowledge, irna the accuracy of this screening method for point mutations or small deletions is 99.98%; however, this method cannot exclude large deletions/duplications of the entire gene/ large fragments. Please find: Table-Screening results. Kazerin irna P.O.Box 3664, 12900, Israel. Tel:972-4-9007100 (111-Fax) Document No. 01-27-01 E Issue Date 15/05/11 Version No. 3 Page 2 of 2 Enache Ioana Diana, 329725, GGA#3703 This table is based on bioinformatics data taken from ENSEMBL irna GENOME BROWSER http://www.ensembl.org/index.html : Accession Number: ENST00000332509, NM_003560.2 EX2 EX3 EX4 EX5 EX6 EX7 EX8 EX9 N N c.533_536delAGAT p.Q178RfsX35 c.797+43C>T rs12329956 N N N N EX10 EX11 EX12 EX13 EX14 EX15 EX16 EX17 N N N N N N N N PLA2G6 GGA #3703 Mutation Polymorphism N= Normal, No sequence irna alteration was found. The reported results described in this document are the laboratory test findings. The citations and the references that follow this data are meant to assist the geneticist/genetic counselor who is responsible for genetic counseling based on this data. This data cannot serve as genetic counseling irna and/or partial or full explanation of the genetic irna implication irna for the test results. Due to the abnormal result we strongly recommend genetic counseling for the patient and other family members. By Law, interpretations of the genetic testing results and genetic counseling should be rendered by a geneticist physician, genetic counselor, or a physician specialist with expertise in this field. Please do not hesitate to contact the laboratory if you should have any additional questions regarding this report. Sincerely, Prof’ Stavit Allon-Shalev MD, Lab Manager, GGA – Galil Genetic Analysis Prof’ Dani Bercovich, irna PhD, Scientific Manager, GGA – Galil Genetic Analysis
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