Constitutional Whole Exome Sequencing (WES) for Undiagnosed Disease
NYGC’s Clinical Laboratory returns results within 4-6 weeks on a standard basis, but can provide more rapid turnaround if needed. Results are sent to the physician and/or genetic counselor (due to the complexity of genetic testing and potential implications of the test results) who then discuss the results with the patient. The results of this test can become part of the patient’s medical record.
A report will be provided indicating the variants that could explain the clinical phenotype. In addition, the Clinical Laboratory will report secondary findings in medically actionable genes as per the American College of Medical Genetics and Genomics (ACMG) guidelines. Patients will also be able to “opt in” to learning their carrier status for autosomal recessive genes recommended by the ACMG and the American Congress of Obstetricians and Gynecologists (ACOG) for reproductive screening.