High-Quality Genomic Testing

Physicians may elect to order clinical genome sequencing for patients whose clinical presentations have defied diagnosis, or for whom a diagnosis doesn’t completely “fit” the symptoms or manifestation of the disease, and for which the cause appears genetic in origin. These patients will typically have seen a number of specialists and current therapies are unsuccessful in alleviating symptoms or providing a significant improvement in health. Patients also may have undergone a series of tests, often including testing of specific genes, prior to being a good candidate. Patients with a reliable and confirmed diagnosis will not be good candidates.

Clinical Genome Sequencing at 30X with interpretation

Frequently called Whole Genome Sequencing (WGS), the Clinical Services Lab, LLC at HudsonAlpha provides Clinical Genome Sequencing of a sample at 30x coverage depth, complete with clinical data interpretation to provide guidance to patients and medical providers. Coverage refers to the number of data reads that are sequenced to ensure a mean coverage of 30x. Contact the laboratory if a 40x coverage or beyond is desired.

Clinical Genome Sequencing Service only with Quality Metrics

Frequently called Whole Genome Sequencing (WGS), the Clinical Services Lab at HudsonAlpha will provide Clinical Genome Sequencing, offering FASTQ, BAM and gVCF with quality metrics for clinicians who do their own interpretation.

Reanalysis / Reinterpretation of Clinical Sequencing

The Clinical Services Lab at HudsonAlpha can reinterpret a previously examined genome or exome, to include development of new symptoms or recently discovered genes. The lab can reanalyze data from both the CSL and outside laboratories, the option is available to do a targeted reanalysis of up to 25 genes or complete reanalysis of an entire dataset.

Sample – Extract and Hold

The HudsonAlpha Clinical Services Lab offers DNA isolation and storage services to allow further testing at a later time.