Focused NGS- Single Gene

Test Information

In order to best meet the needs of the clinical providers and patients we serve, our molecular laboratory offers custom testing options, or Focused Exomes, for sequencing of single genes and multi-gene panel requests. These customizable tests are Next Generation Sequencing (NGS) based assays utilizing our whole exome sequencing platform, the Agilent SureSelect Clinical Research Exome kit. Healthcare providers can select from one up to 15 genes for these focused exome requests. While a focused exome can include more than 15 genes, these are considered on a case by case basis. We recommend you contact the laboratory and discuss the case and gene(s) of interest with one of our laboratory genetic counselors or directors prior to submitting the test order. Focused exomes may have low coverage for certain exons, genes, or regions included in the request given the nature of an exome platform. These details can be reviewed and discussed on an individual case basis. Similar to whole exome sequencing and our established NGS panels, all variants are confirmed with Sanger sequencing before being reported out. We hope that the option of a focused exome will provide flexible and efficient diagnostic tests for those patients that don't have other appropriate testing options.

Turnaround Time

12 weeks

CPT Code(s)

Varies by gene; contact the lab

Cost

$1,500

Indications

Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.

Methodology

Next Generation Sequencing

Associated Tests

Specimen Requirements

5 to 7 ml of peripheral blood collected in an EDTA (lavender top) tube is the preferred specimen type. The minimal blood needed for reliable DNA isolation is 3 ml. Extracted DNA is also accepted for this test.

Transport Instructions

The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.

Prenatal Testing Information

If the pathogenic mutation(s) are identified in an affected individual using this panel, prenatal diagnosis is available for future pregnancies. Sanger sequencing will be used for prenatal diagnosis when there is a known familial mutation. Prenatal diagnosis can also be requested when there are clincial features and ultrasound findings suggestive of a diagnosis. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.

Have Questions Need Support?

Call our laboratory at 1-800-473-9411 or contact one of our Laboratory Genetic Counselors for assistance.
Robin Fletcher, MS, CGC
Kellie Walden, MS, CGC

Custom Testing/Focused Exomes, Focused Exome, Molecular Testing
Lucy's Story

Lucy's Story

When our daughter Lucy had a metabolic crisis at 7 days old, we were shocked and devastated to find out that she was born with a rare genetic disorder (MSUD). Her newborn screening results did not make it back in time to prevent the crisis, and no one at our local hospital was familiar with the disease. They did not know how to treat her. Calls were made to Greenwood Genetic Center to confirm her diagnosis...

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