Whole Exome Sequencing, Singleton Analysis

Key Information

Lab:

Molecular

TAT:

10 weeks

Price:

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CPT Code(s):

81415

Test Code:

DWE1

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Whole Exome Sequencing, Singleton Analysis

Whole Exome Sequencing (WES), Singleton Analysis is a molecular test that captures data from the entire exome with additional coverage for genes with known Mendelian disease associations, to help identify the underlying genetic cause of patient’s unexplained medical condition. This is a phenotype driven analysis, and the curation of variants reported is guided from the patient’s documented phenotype. There is no default option for secondary findings. Patients and families must select whether or not to receive this information as part of the analysis.

The standard WES is a trio analysis that includes the proband and both parents. However, the singleton analysis is available if parents or siblings are unavailable.

Technical Information

The average read depth for whole exome sequnecing is typically greater than 150X. In our experience, greater than 30% of patients have a pathogenic or likely pathogenic finding consistent with the reported phenotype. Reanalysis can be ordered as a separate test for an additional charge.

We recommend further array-based testing to more accurately address the concerns of dosage alterations such as GGC’s cytogenomic microarray – a high resolution, whole genome SNP microarray. Laboratory Directors and Laboratory Genetic Counselors are also available for further consultation regarding the limitations of the NGS and array testing procedures.

Specimen Requirements

The preferred sample type is 3-4 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA and saliva are also accepted for this test. Blood and saliva kits are available by request.
Send approximately 5µg of extracted DNA at a requested concentration of 90-130 ng/µl.
Saliva samples must be submitted in an approved saliva kit.

Transport Instructions

The blood 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.
Extracted DNA should be sent at room temperature via overnight delivery.
Saliva is stable at room temperature and can be delivered via overnight or ground shipping.

Associated Tests

Connect With Our Experts

Call 1-800-473-9411 to speak with our team of laboratory genetic counselors for questions or additional information.

Robin Fletcher, MS, CGC
Falecia Thomas, MS, CGC
Alex Finley, MS, CGC

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