Focused NGS - Single Gene

Turnaround Time

5 weeks

CPT Code(s)

Varies by gene; contact the lab

Cost

$1,500

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.

Next Generation Sequencing

Focused NGS tests on the genome backbone will include analysis for both sequence variants as well copy number variants (CNV). Low level mosaic variants may be missed on a genome backbone. If mosaicism is specifically suspected, testing will need to be performed using the exome platform instead. Any testing performed on the exome platform either due to sample type or mosaicism indication will not include CNV analysis.

3 to 5 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 from blood is also accepted for this test. Saliva, saliva swabs, or extracted DNA from saliva samples may not meet the lab’s QC threshold for sequencing on the genome platform. Saliva samples that fall below the acceptable quality and FFPE samples will be run on an exome platform instead.

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.

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.