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The Iowa Institute of Human Genetics (IIHG) provides an integrated Clinical Whole Exome Sequencing test. The exome is the part of the genome that includes all of the exons, and makes up approximately 1% of your DNA. Whole exome sequencing is the analysis of the coding portion of approximately 20,000 genes in the human genome. The IIHG Clinical Whole Exome Sequencing test can be ordered by a physician as a tool in the diagnosis and management of their patients, or to narrow a differential diagnosis for a patient with an undiagnosed genetic disorder.
Sequencing of parent-child trios is strongly recommended, as parental samples are often necessary for the interpretation of the child’s results. A clinical consent form and detailed clinical information must be submitted with the test request for the sample to be processed. The clinical consent form can be used during the consent process to provide an overview and explanation of exome sequencing to the patient and family. We have developed a custom informatics pipeline for primary gene analysis based on the differential diagnosis and phenotypes reported by the ordering physician. The multidisciplinary IIHG Clinical Exome Interpretation team reviews and interprets all results. The ordering physician receives a report of high-quality clinically relevant results in a customized report for each patient.
Genetic counseling is highly recommended for anyone undergoing this test. Genetic counseling typically will include an explanation of the test including risks, benefits, and limitations, as well as explanation and completion of the informed consent document. Post-test genetic counseling can aid in the patient’s understanding of their test results and implications for other family members. Pre- and post- test genetic counseling are available for patients seen at the University of Iowa Hospitals and Clinics regarding the IIHG Clinical Whole Exome Sequencing test and its results.
Common indications for testing include:
*Please note, currently approximately 25% of patients for whom this test is ordered receive a positive diagnostic result or suspected diagnosis from the test. (Yang, Y., D.M. Muzny, et al. New England Journal of Medicine 2013; 369(16): 1502-1511.).
*Note: Your institution will be billed the fees below
At this time the IIHG only accepts Institutional Billing.
*Please note: billing information MUST be complete before samples will be processed.
To order the test, please complete the following forms which are available on our website:
In addition, a pedigree must be submitted. For assistance constructing a pedigree, or family history, a brief tutorial can be found at: http://www.medicine.uiowa.edu/humangenetics/DrawPedigree
* All samples must be labeled with the patient’s name, date of birth, and date of collection.
The IIHG accepts the following types of specimens:
Please note: Specimens for which insufficient quality or quantity of DNA is obtained, an additional sample will be requested. Incorrect handling or shipping of specimens can result in insufficient quality or quantity of DNA.
The IIHG Genome Resource Center can assist you with the following;
For assistance determining if the IIHG Clinical Whole Exome Sequencing test is appropriate for your patient
Iowa Institute of Human GeneticsUniversity of Iowa 285 Newton Road, 5296 CBRBIowa City, IA, 52242319-335-3688 Tel319-335-3484 FaxEmail: firstname.lastname@example.org/humangenetics