Panel Sequencing (PS)
Overview
The NYGC’s panel sequencing test utilizing genome sequencing technology offers a variety of testing options.
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Patients with undiagnosed diseases
This test offers a targeted approach focusing on a predefined set of genes or genomic regions of interest known to be associated with certain diseases or conditions.
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Carrier screening
This test is intended for healthy individuals looking for carrier status for autosomal recessive (AR) and x-linked conditions recommended by the ACMG and ACOG for reproductive screening.
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Pharmacogenomic testing
Not all patients respond to drug therapy in a uniform and beneficial fashion. This test helps analyze an individual’s genetic variation to certain drug responses to provide important personalized information regarding drug safety or efficacy.
Deliverables
The NYGC’s Clinical Laboratory returns results within 4-6 weeks on a standard basis. 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.
For patients with undiagnosed disease, a report will be provided indicating the variants that could explain the clinical phenotype. In addition, patients can consent for reporting secondary findings in medically actionable genes as per the American College of Medical Genetics and Genomics (ACMG) guidelines. Patients will also be able to consent for their carrier status for autosomal recessive genes recommended by the ACMG and ACOG for reproductive screening.
For carrier testing carrier status will be reported as per the ACMG guidelines. In addition, individuals can consent for reporting secondary findings in medically actionable genes as per the ACMG guidelines.
For Pharmacogenomic testing only actionable variants will be reported as per the Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines. In addition, patients can consent for reporting secondary findings in medically actionable genes as per the American College of Medical Genetics and Genomics (ACMG) guidelines. Patients will also be able to consent for their carrier status for autosomal recessive genes recommended by the ACMG and ACOG for reproductive screening.
Ordering Instructions
A physician can order the test using the NYGC’s test requisition form and must obtain informed consent from each family member (in pediatric cases, the child’s parents) being tested. This test requires at least 2ml of blood drawn in an EDTA tube or saliva specimen collected in an Oragene Dx collection kit or DNA extracted in a CLIA-certified laboratory from each family member being tested (all samples submitted together whenever possible). Samples should be shipped to the NYGC overnight via FedEx. A courier service may also be feasible.
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