Medical Genetics Test Details
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|Sequential Trio Whole Exome Sequencing|
|Test Information:||Indications for Testing
Patient with a suspected genetic syndrome but no definitive diagnosis by proband only exome sequencing previously performed in our laboratory using version 3 exome reagents.
The sequential Trio Whole Exome Sequencing (sequential trio WES) test is ordered by a physician and must be accompanied with a consent form and detailed clinical information. In general, the test is used when a physician decides that a patient's previous proband only exome (test code 1500) did not yield a definitive diagnosis and chooses to order sequential trio WES in an effort to obtain additional information such as de novo or compound heterozygous changes in the proband to help with the molecular diagnosis.
Note: This test is only available for patients who were previously tested for proband only exome in our laboratory using version 3 exome reagents as indicated in the title section on the patient's proband exome report. No further exome testing in the wet lab is needed for the patient, the previous exome data will used for analysis. Exome sequencing of parents are required to interpret trio WES results (test code 1551 for parental samples, see requisition form). See below and requisition for sample requirements and further details. Testing cannot be requested unless both parents submit samples for testing. If parental samples have previously been submitted please call client services to determine if new sample is required.
The sequential trio Whole Exome Sequencing test is a highly complex test that is newly developed for the identification of changes in a patient's DNA that are causative or related to their medical concerns. In contrast to current sequencing tests that analyze one gene or small groups of related genes at a time, the Trio Whole Exome Sequencing test will analyze the exons or coding regions of thousands of genes simultaneously using next-generation sequencing techniques.
The principle of the test is to sequence nucleotide by nucleotide, the human exome of an individual to a depth of coverage necessary to build a consensus sequence with high accuracy. This consensus sequence is then compared to standards and references and the parental WES data and the result is interpreted by board-certified laboratory directors and clinicians. By sequencing the exome of a patient and their parents and then comparing it to normal reference sequence, variations in an individual's DNA sequence can be identified and related back to the individual's medical concerns in an effort to discover the cause of the medical disorder.
For information on specific coverage, please click here: Whole Exome Sequencing Version 3 Coverage Search Tool
This test is only available for patients who were previously tested for proband only exome in our laboratory using version 3 exome reagents as indicated in the title section on the patient's proband exome report.
|Methodology:||Exome Capture and Next Generation Sequencing|
|Sample & Shipping Information|
|Test Requisition:||Please call client services at 1-800-411-4636 to obtain requisition.|
|Requirements:||Additional sample from the proband is not needed. For the parental samples draw blood in an EDTA (purple-top) tube(s) for both parents. Send at least 10cc (adults).|
|Shipping Conditions:||Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze. Sample must arrive within 72 hrs.
|Specimen Type:||Purified DNA|
|Requirements:||Additional sample from the proband is not needed. For the parental samples send at least 20ug of purified DNA (minimal concentration of 50ng/uL; A260/A280 of ~1.7) for both parents.|
|Shipping Conditions:||Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze.
|Turn Around Time:||8 weeks|
|List Price:||*For Insurance or Institutional Prices, please call.|