Marfan's syndrome other diagnostic studies: Difference between revisions
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==Other Diagnostic Studies== | ==Other Diagnostic Studies== | ||
===Molecular Diagnostics===Molecular diagnostics, namely DNA sequencing can be extremely informative for the diagnosis of Marfan syndrome. A 2008 study showed that while only 79% of known probands could be diagnosed with Marfan syndrome using clinical criteria, 90% of these individuals could be diagnosed using the international criteria when sequencing data was added. In children, this figure leapt from 56% to 85% with sequencing data. The increased diagnostic sensitivity conferred by genetic information promises to be especially useful in children who have not developed clinical manifestations, but in whom new pharmacological interventions may be successful. Currently, laboratories offer complete sequencing of the 65 exon FBN1 gene for approximately $1700.00 <ref>. (Accessed November 22, 2010, at http://www.bcm.edu/pediatrics/index.cfm?Realm=99992426&This_Template=FBN1.)</ref>. The high costs of these diagnostics have delayed the widespread use of molecular diagnostics in the approach to patients suspected of Marfan syndrome. Increasingly less expensive sequencing technologies promise to increase reliance on individual genetic data for diagnosis in the future. | ===Molecular Diagnostics=== | ||
Molecular diagnostics, namely DNA sequencing can be extremely informative for the diagnosis of Marfan syndrome. A 2008 study showed that while only 79% of known probands could be diagnosed with Marfan syndrome using clinical criteria, 90% of these individuals could be diagnosed using the international criteria when sequencing data was added. In children, this figure leapt from 56% to 85% with sequencing data. The increased diagnostic sensitivity conferred by genetic information promises to be especially useful in children who have not developed clinical manifestations, but in whom new pharmacological interventions may be successful. Currently, laboratories offer complete sequencing of the 65 exon FBN1 gene for approximately $1700.00 <ref>. (Accessed November 22, 2010, at http://www.bcm.edu/pediatrics/index.cfm?Realm=99992426&This_Template=FBN1.)</ref>. The high costs of these diagnostics have delayed the widespread use of molecular diagnostics in the approach to patients suspected of Marfan syndrome. Increasingly less expensive sequencing technologies promise to increase reliance on individual genetic data for diagnosis in the future. | |||
==References== | ==References== | ||
{{reflist|2}} | {{reflist|2}} | ||
{{WH}} | {{WH}} | ||
{{WS}} | {{WS}} | ||
Revision as of 14:29, 22 August 2012
Other Diagnostic Studies
Molecular Diagnostics
Molecular diagnostics, namely DNA sequencing can be extremely informative for the diagnosis of Marfan syndrome. A 2008 study showed that while only 79% of known probands could be diagnosed with Marfan syndrome using clinical criteria, 90% of these individuals could be diagnosed using the international criteria when sequencing data was added. In children, this figure leapt from 56% to 85% with sequencing data. The increased diagnostic sensitivity conferred by genetic information promises to be especially useful in children who have not developed clinical manifestations, but in whom new pharmacological interventions may be successful. Currently, laboratories offer complete sequencing of the 65 exon FBN1 gene for approximately $1700.00 [1]. The high costs of these diagnostics have delayed the widespread use of molecular diagnostics in the approach to patients suspected of Marfan syndrome. Increasingly less expensive sequencing technologies promise to increase reliance on individual genetic data for diagnosis in the future.
References
- ↑ . (Accessed November 22, 2010, at http://www.bcm.edu/pediatrics/index.cfm?Realm=99992426&This_Template=FBN1.)