Report Template for Positive Diagnosis Result
... related to this patient’s disease. Recommendations: Genetic counseling is recommended to discuss the implications of this finding for the patient and their family. References: Test: Whole Exome Sequencing (WXS) WXS was performed in a research environment to screen the coding portion of the subject’s ...
... related to this patient’s disease. Recommendations: Genetic counseling is recommended to discuss the implications of this finding for the patient and their family. References: Test: Whole Exome Sequencing (WXS) WXS was performed in a research environment to screen the coding portion of the subject’s ...
flyer
... information available to determine the d iagnosis. Moreover, there is no time to order multiple specific tests. Even with adult patients, a prompt diagnosis can be essential to save the patient’s life. ...
... information available to determine the d iagnosis. Moreover, there is no time to order multiple specific tests. Even with adult patients, a prompt diagnosis can be essential to save the patient’s life. ...
Identifying Mutations Responsible for Rare Disorders Using New
... Schematic of the FLVCR2 mutations found in two patients (F1 and F3). A. The four mutations in FLVCR2 identified in F1 and F3 using whole exome sequencing as visualized using the Integrative Genomics Viewer from the Broad Institute (http://www.broadinstitute.org/igv). B Mutations in FLVCR2 are shown ...
... Schematic of the FLVCR2 mutations found in two patients (F1 and F3). A. The four mutations in FLVCR2 identified in F1 and F3 using whole exome sequencing as visualized using the Integrative Genomics Viewer from the Broad Institute (http://www.broadinstitute.org/igv). B Mutations in FLVCR2 are shown ...
Exome sequencing
Exome sequencing is a technique for sequencing all the protein-coding genes in a genome (known as the exome). It consists of first selecting only the subset of DNA that encodes proteins (known as exons), and then sequencing that DNA using any high throughput DNA sequencing technology. There are 180,000 exons, which constitute about 1% of the human genome, or approximately 30 million base pairs, but mutations in these sequences are much more likely to have severe consequences than in the remaining 99%. The goal of this approach is to identify genetic variation that is responsible for both mendelian and common diseases such as Miller syndrome and Alzheimer's disease without the high costs associated with whole-genome sequencing.