Exome sequencing is a capture-based method that targets and sequences coding regions of the genome, referred to as “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.

One blood sample 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 may be accepted. Please contact us in advance to discuss alternative specimen types.

Current turn-around time for reporting Genome Sequencing is anticipated to be ~12-16 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 Genome Sequencing is required. Please contact us for more details.

Specific types of genetic variation, such as triplet repeat expansions, translocations, copy number events, and variants in highly homologous regions, are currently not reliably detected by 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 adequately covers ~95% of the genome, there are certain regions for which the assay may not sufficiently 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 average sequencing coverage for specific genes for Genome sequencing. Coverage metrics were calculated using exons +/- 2 bp of intronic sequence at ≥15X for Genome Sequencing. 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 will be conducted free of charge one time after a year of the initial report date. 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.

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 the Genomic Screening Test and the Expanded Genomic Screening tests to individuals without a primary medical indication. 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. Please see out Genomic Screening Test page for additional information.

Current pricing for Diagnostic Genome Sequencing can be found here. Please contact us for other pricing requests.

The diagnostic genome 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 59 clinically actionable genes. Please contact us for more details.

Genomic Screening tests is for individuals over 18 years of age who are interested in learning more about their genomic information to identify related health, reproductive and/or pharmacogenomic risks. 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.

For additional guidance in ordering a Genomic Screening test, please contact us.

Current pricing for the Genomic Screening Tests can be found here. Please contact us for other pricing requests.

The Genomic Screening Test report will include information on pathogenic and likely pathogenic variants in 59 medically actional genes with the option to include pharmacogenomic (PGx) results. The Expanded Genomic Screening Test will include information on pathogenic and likely pathogenic variants in >3,500 genes with strong or definitive disease associations, including carrier status variant in those same genes, as well as risk alleles and pharmacogenomic (PGx) results. Additional coverage statistics can be provided upon request