How long does exome sequencing take

Exome sequencing targets the protein-coding regions, called exons, of the approximately 20, genes in the genome. Exome sequencing can be used to identify the molecular basis of a genetic disorder in individuals:. The non-coding regions include promoter, intronic, and untranslated regions. While much of the data generated from sequencing the genome is not well understood at this time, GS may provide more reliable coverage of the exonic regions []. Questions regarding pricing and billing can be directed to GeneDx Customer Service at zebras genedx.

The turnaround time will vary depending on the specific test requested. Please see the specific test page for additional information. This improves the sensitivity of the analysis when compared to testing only the patient.

In some cases, including siblings or other relatives of the patient can be helpful. We will also discuss the type of testing that is most useful and appropriate i.

Relative specimens may be collected and shipped separately from the patient specimen; however, relative specimens must be received within three weeks of receipt of the patient's specimen.

In general, only a single report will be issued for in the patient's name only. However, the report will describe the inheritance and segregation of variants for all tested individuals. Although sequence data may be generated on relatives, this data is only used to aid in the analysis of the patient's data.

GeneDx does not conduct an independent analysis on relative specimens. A second, independent analysis on a relative can be ordered; additional fees apply. Biological parents are typically the most informative specimens and are preferred whenever possible. If parents are unavailable, other relatives may be considered on a case-by-case basis.

The absence of parental data may lead to the over reporting of variants of unknown significance that could otherwise be dismissed based on inheritance patterns. Exome and genome sequencing will identify hundreds of thousands of variants. The clinical information provided by the ordering provider, including a description of the features, family history, and prior test results, is critical in the analysis of variants.

If additional reports are requested for other affected family members, additional fees may apply. The report issued for the patient will contain variants in genes previously implicated in a human disease similar to that affecting the patient or in genes hypothesized to be related to the cause of the disease candidate genes , based upon the function, tissue of expression, and phenotype of model organisms with alterations in the gene.

Variants in candidate genes may also be reported based on internal data, such as observations of previous XomeDx cases with similar phenotypes and types of variations in the same gene.

The American College of Medical Genetics and Genomics ACMG recommends that pathogenic and likely pathogenic variants identified in a specific subset of genes associated with medically actionable, inherited disorders be reported for all patients undergoing exome or genome sequencing.

Please refer to the latest version of the ACMG recommendations for reporting of secondary findings in clinical exome and genome sequencing for complete details of the genes and associated genetic disorders. Secondary findings will be included in all exome and genome sequencing reports, unless a patient opts-out of receiving this information in the Patient Consent section of the test requisition form.

The presence of any secondary finding s reported for the patient will be provided for all relatives included as part of the patient's test. GeneDx does not conduct an independent evaluation of secondary findings in relatives. Relatives have the ability to opt-out of receiving secondary findings. Secondary findings will be confirmed by an alternate test method when needed. Yes, as a separate test.

A single report will be issued for the patient affected individual. No separate reports will be issued for the parents or other unaffected relatives.

CNVs are an important disease mechanism that should be evaluated in all patients with a suspected inherited disorder.

They looked at , individuals who underwent genetic testing. Depending on the clinical specialty, CNVs can represent a significant portion of the disease-causing variants identified. Having high-quality sequencing data is important, but how that data are analyzed is also important. A genotype-first approach ensures disease-causing variants are not filtered out of the analysis based only on our current understanding of genes and the phenotypes they cause.

The genotype-first approach allows identification of atypical presentations of known disorders, diagnoses in newly established genes or even candidate genes. It can be especially powerful in neonates and young children when the phenotype might not be complete. Read more: How clinical information impacts successful genetic diagnostics. In cases where known disease genes are negative for pathogenic and likely pathogenic variants or where only part of the phenotype is explained, it can be useful to also analyze and report candidate variants in genes not yet known to be associated with disease.

So, we kept looking in the exome data, and identified a homozygous nonsense variant in SLC10A7. According to Schleit, this variant had not been reported in population databases and, at the time, a PubMed search was negative.

A pre-publication by Ashikov et al was identified using another search engine and actually reported a small series of patients with variants in this gene and the same phenotype. Recent publications have shown that WES can reduce the time to, and cost of, a diagnosis.

A prospective study by Vissers et al revealed that WES identified significantly higher conclusive diagnoses Three of the initially missed diagnoses were already present in the original WES data with decent coverage but remained unnoticed, thus being detectable by simple WES reanalysis.

The conclusion: reanalysis of old WES data is a reasonable first step. Please be advised that we only accept specimen collection kit requests from medical professionals. If you are a patient or family member of a patient, please contact your provider to place a kit order on your behalf. Blueprint Genetics. Diagnostic tests Menu Diagnostic tests. Menu Testing with us. To learn more, please review our cookie policy , which includes information on how to manage your cookies.

Cookie Settings OK. Manage consent. Close Privacy Overview This website uses cookies to improve your experience while you navigate through the website. Out of these, the cookies that are categorized as necessary are stored on your browser as they are essential for the working of basic functionalities of the website.

We also use third-party cookies that help us analyze and understand how you use this website. These cookies will be stored in your browser only with your consent. You also have the option to opt-out of these cookies. But opting out of some of these cookies may affect your browsing experience.

Necessary Necessary. Necessary cookies are absolutely essential for the website to function properly. These cookies ensure basic functionalities and security features of the website, anonymously. The cookie is used to store the user consent for the cookies in the category "Analytics".

The cookies is used to store the user consent for the cookies in the category "Necessary". The cookie is used to store the user consent for the cookies in the category "Other. The cookie is used to store the user consent for the cookies in the category "Performance".

It does not store any personal data. Functional Functional. Functional cookies help to perform certain functionalities like sharing the content of the website on social media platforms, collect feedbacks, and other third-party features. Performance Performance. Performance cookies are used to understand and analyze the key performance indexes of the website which helps in delivering a better user experience for the visitors.

Analytics Analytics. Analytical cookies are used to understand how visitors interact with the website. These cookies help provide information on metrics the number of visitors, bounce rate, traffic source, etc. Advertisement Advertisement.

Advertisement cookies are used to provide visitors with relevant ads and marketing campaigns. These cookies track visitors across websites and collect information to provide customized ads. Others Others. Other uncategorized cookies are those that are being analyzed and have not been classified into a category as yet.