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Molecular diagnosis of Neonatal mellitus - Research Paper Example

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This paper “Molecular diagnosis of Neonatal mellitus” discusses the feasibility of using next-generation sequencing as a whole exome in an attempt to relieve patients suffering from NDM problems. It also present the methodology used in testing the whole exome sequencing (WES) to patients…
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Molecular diagnosis of Neonatal mellitus
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Download file to see previous pages Therefore, the adoption of whole exome sequencing (WES) for diagnosis of NDM at molecular level provided a remedy in general management of NDM as asserted by Bonnefond et al (2010). Molecular diagnosis of NDM has had several achievements such as it permitted a more rapid and cost-effective diagnosis problems. The analysis of patients with monogenic forms of diabetes is now very fast since the use of molecular diagnosis makes it possible of analysing many diabetes genes simultaneously (Bonnefond et al, 2010).  Molecular diagnosis is applicable where the use of sanger-based sequencing was inefficient. Most importantly, the use of whole exome sequencing for molecular diagnosis is an exceptional tool for further genetic research. In addition, WES is important in further identification of new casual mutations (Ylikallio et al, 2014). For example, the use of WES has identified a new mutation of ABCC8. Therefore, this technology is more comprehensive, cheaper and less labour intensive as compared to other standard sequencing protocols.The Molecular Diagnosis of NDA Studies show that almost half of NDM cases are transient (TNDM) while the other forms are permanent (PNDM) (Carroll, Brilhante, and Suomalainen, 2014). The several cases of both the forms of NDM that were attend to since the adoption of WES use shows that, majority of all the cases handled had TNDM form. This form had abnormality in chromosome 6q24 and a diagnosis on the frequent cause of NDM shows there is mutation in the pancreatic beta cells. ...Download file to see next pagesRead More
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