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Exome with CNV Evaluation, Reanalysis
Test Code36938
CPT Codes
81417<br>** This test is not available for New York patient testing **
FDA Status
This test was developed and its analytical performance characteristics have been determined by Athena Diagnostics. It has not been cleared or approved by the U.S. Food and Drug Administration. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
Setup Schedule
Set up: As needed; Report available: 8-12 weeks
Reference Range
See Laboratory Report
Clinical Significance
Exome Sequencing is a genetic technique for sequencing the DNA containing the protein-coding genes (known as the exome). Exome selectively captures and interrogates these protein-coding genes constituting approximately 1-2% of the genome. Quest’s test offering includes Copy Number Variation (CNV) analysis and sequencing of the mitochondrial genome, potentially improving the detection rates over sequencing alone. Exome is used to help clinicians diagnose a genetic condition of unknown etiology and end the patient’s diagnostic odyssey. Once diagnosis is established, more definitive and precise clinical management and anticipatory care can be instituted.
Exome is commonly used for diagnosing the approximately 3% of children with developmental delay, intellectual disability, or multiple congenital anomalies. The initial workup of these complex cases often includes CSF examination, EMG/NCV, biopsies, neuroimaging, karyotype, CGH array, biochemical genetic testing, as well as molecular and serial gene tests. Some of these and additional tests are potentially avoided if exome provides a diagnosis. Clinical use of exome may not only reduce costs of arriving at a diagnosis, but it may also increases precision of diagnosis and may point to unsuspected treatable conditions e.g., metabolic disorder, hereditary arrhythmias, or epilepsy.
For disorders of high genetic heterogeneity (multiple or undefined genes involved for the disorder) or with non-syndromic phenotypes (diverse clinical manifestations not suggestive of a specific genetic condition), exome sequencing offers potential advantages over traditional genetic testing where genes are typically analyzed sequentially over a longer period of time at substantial expense. The diagnostic yield of exome in most clinical diagnostic laboratories ranges from approximately 25 to 60 percent. Exome sequencing could enable early interventional therapies in patients that may alter what would otherwise be a fatal disease course. In this way there is significant potential to decrease morbidity and mortality related to genetic diseases, as well as to facilitate parental decisions regarding management, including transition to palliative care.
The anticipated benefits of exome sequencing include providing actionable results that alter therapy and direct medical management, including:
• provide an earlier diagnosis enabling earlier more precise treatments that permit better outcome;
• end the diagnostic odyssey, avoidance of additional testing that is often painful and/or costly, bringing closure and saving further costs to families, insurers and hospitals;
• provide a more precise prognosis;
• guide medical monitoring and/or medication changes;
• support clinical trial eligibility;
• enable evidence-based reproductive planning decisions and identify pre-symptomatic family members.
Studies suggest that exome testing offers improved clinical care and lower costs in the continuum of care as well as appropriate use of esoteric tests and reduction in test duplication. In the future, it is likely that exome testing will be increasingly used as a first-line of molecular diagnostic tests to help tailor timely medical management, eliminating the need for unnecessary procedures and testing.
Exome is commonly used for diagnosing the approximately 3% of children with developmental delay, intellectual disability, or multiple congenital anomalies. The initial workup of these complex cases often includes CSF examination, EMG/NCV, biopsies, neuroimaging, karyotype, CGH array, biochemical genetic testing, as well as molecular and serial gene tests. Some of these and additional tests are potentially avoided if exome provides a diagnosis. Clinical use of exome may not only reduce costs of arriving at a diagnosis, but it may also increases precision of diagnosis and may point to unsuspected treatable conditions e.g., metabolic disorder, hereditary arrhythmias, or epilepsy.
For disorders of high genetic heterogeneity (multiple or undefined genes involved for the disorder) or with non-syndromic phenotypes (diverse clinical manifestations not suggestive of a specific genetic condition), exome sequencing offers potential advantages over traditional genetic testing where genes are typically analyzed sequentially over a longer period of time at substantial expense. The diagnostic yield of exome in most clinical diagnostic laboratories ranges from approximately 25 to 60 percent. Exome sequencing could enable early interventional therapies in patients that may alter what would otherwise be a fatal disease course. In this way there is significant potential to decrease morbidity and mortality related to genetic diseases, as well as to facilitate parental decisions regarding management, including transition to palliative care.
The anticipated benefits of exome sequencing include providing actionable results that alter therapy and direct medical management, including:
• provide an earlier diagnosis enabling earlier more precise treatments that permit better outcome;
• end the diagnostic odyssey, avoidance of additional testing that is often painful and/or costly, bringing closure and saving further costs to families, insurers and hospitals;
• provide a more precise prognosis;
• guide medical monitoring and/or medication changes;
• support clinical trial eligibility;
• enable evidence-based reproductive planning decisions and identify pre-symptomatic family members.
Studies suggest that exome testing offers improved clinical care and lower costs in the continuum of care as well as appropriate use of esoteric tests and reduction in test duplication. In the future, it is likely that exome testing will be increasingly used as a first-line of molecular diagnostic tests to help tailor timely medical management, eliminating the need for unnecessary procedures and testing.
