Exome sequencing is a capture-based method that targets and sequences coding regions of the genome “the exome”. In contrast, genome sequencing doesn’t require a capture step and offers coverage across the entire genome. While most of the interpretable genome falls within the exome, genome sequencing is capable of detecting additional clinically relevant variation.

Testing is currently recommended for patients with a suspected genetic disorder in whom traditional genetic testing has not yielded a result. Exome and Genome sequencing may also be considered as a first-line testing strategy for conditions with a high degree of genetic heterogeneity for which panel-based testing is either limited or unavailable. For additional guidance in ordering Exome or Genome Sequencing, please contact us.

We do offer Exome and Genome sequencing for healthy individuals. However, this test must be ordered via a physician and we recommend that individuals seeking this testing consult with a genetic counselor before ordering the test.

Current pricing for a single exome with clinical interpretation is $6,500. Full exome sequencing for a familial trio is $9,500. Current pricing for a single genome with clinical interpretation is $9,000. Full genome sequencing for a familial trio is $18,000. Please contact us for other pricing requests.

A peripheral blood sample collected in a lavender top tube is the preferred specimen for exome sequencing. In situations where blood specimens are inappropriate or unavailable, other specimens (e.g., cultured fibroblasts) may be accepted. Please contact us in advance to discuss alternative specimen types.

Two blood samples, one collected in a PAXgene Blood DNA tube and one collected in a lavender top tube is the preferred specimen. The Laboratory for Molecular Medicine can provide blood tube kits. In situations where blood specimens are inappropriate or unavailable, other specimens (e.g., cultured fibroblasts) may be accepted. Please contact us in advance to discuss alternative specimen types.

Current turn-around time for reporting Exome and Genome Sequencing is anticipated to be ~16 weeks, but may vary depending upon the complexity of the case and the volume of cases within the laboratory. Please contact us for current turn-around times.

If results are required for urgent medical management, cases may be given priority and a result can be returned more rapidly. However, notification to the laboratory prior to ordering Exome or Genome Sequencing is required. Please contact us for more details.

The report will contain an overall result based upon the individual’s presenting symptoms, as well as in-depth information on plausible genetic causes of disease with phenotype-driven interpretation. The analysis approach for each case is clearly outlined and coverage statistics for genes known to be associated with the patient’s indication for testing will be provided. Additional coverage statistics will also be provided upon request.

Patients have the option to receive additional results that may be unrelated to the indication for testing, but may be of potential medical value. This service includes analysis of variants in genes recommended by the American College of Medical Genetics (https://www.ncbi.nlm.nih.gov/clinvar/docs/acmg/). Expanded incidental findings analysis, including >350 genes conferring highly-penetrant monogenic disease risk and carrier status for recessive disorders, is also available upon request. Please contact us for more details.

Specific types of genetic variation, such as triplet repeat expansions, translocations, and large copy number events, are currently not reliably detected by either Exome or Genome Sequencing. Because Exome Sequencing only covers the coding regions of the genome, any genetic changes residing outside of the targeted region will not be detected. Furthermore, not all coding regions are sufficiently covered and variants in regions of low coverage may not be reliably detected. While Genome Sequencing covers ~95% of the genome, there are certain regions for which the assay may not adequately generate sequence information. Gene-level coverage information for both tests is available online and details regarding the coverage of genes associated with a specific indication can be determined upon request.

Our gene coverage table lists the sequencing coverage for specific genes for both Exome and Genome sequencing. Coverage metrics were calculated using the average coverage of exons +/- 2 bp of intronic sequence at ≥8X for Genome Sequencing or at ≥20X for Exome Sequencing. Please note that these coverage metrics do not account for regions with poor mapping quality. Please contact us if you wish to receive information regarding coverage of specific exons or positions within a gene.

When requested, the Laboratory for Molecular Medicine (LMM) will provide raw sequence data to the ordering physician in the form of FASTQ, BAM, or VCF files with the understanding that the data will be interpreted by a trained professional and secondary confirmation of variants will be performed as appropriate. This data is intended for use in the clinical care of the patient only; use of this data for research purposes requires patient consent. VCFs will be delivered via secure file transfer and are available free of charge. FASTQ and BAM files will be provided on an encrypted hard drive (additional fees apply). Please contact us for more information.

Our knowledge of human genetic variation is rapidly evolving, and we recommend periodic reinterpretation of genomic data. Upon request, reinterpretation of reported variants will be conducted free of charge and will be shared automatically to users of our GeneInsight Clinic application. Reanalysis of the entire exome or genome for the primary indication or a new indication may require an additional charge. Please contact us for more details.