Reanalysis & Reinterpretation

Only qualified healthcare providers may order

Whole genome sequencing is a powerful tool in the diagnosis of rare disease. Unlike panel or exome sequencing which cover just a fraction of the human genome, whole genome sequencing covers nearly the entire human genome – over 6 billion base pairs. With this technology, the rapidly growing genomics knowledge base, and our expertise in bioinformatics and clinical genomics, the HudsonAlpha Clinical Services Lab provides comprehensive reanalysis of a patient’s sequencing data when prior analyses failed to find a diagnosis. Together, we can end the diagnostic odyssey.

Download Test Requisition Form

Download Reanalysis Request Form

Reporting

Reanalysis of prior sequencing is recommended 18-24 months after initial analysis for patients without a diagnosis. Our reanalysis test includes reprocessing of whole genome or exome sequencing data on the latest bioinformatics pipelines, variant analysis and interpretation, and clinical report of relevant findings. Variants related to the patient’s indication for testing are reported as “Primary Findings” and may include pathogenic, likely pathogenic, or variants of uncertain significance. In addition to Primary Findings, patients have the option to receive additional findings that are unrelated to the indication for testing and reach the level of pathogenic or likely pathogenic. These “Secondary Findings” are grouped into the following categories (note, treatable disorders of childhood will always be reported when identified):
- Untreatable childhood-onset disorders (e.g., Tay-Sachs disease)
- Untreatable adult-onset disorders (e.g., Alzheimer’s disease)
- Treatable adult-onset disorders (e.g., hereditary cancer)
- Pharmacogenetics (variants that affect a person’s response to medications)
For patients whose sequencing was performed by the HudsonAlpha Clinical Services Lab, orthogonal confirmation of findings is included. For externally-generated data reanalysis requests, orthogonal confirmation is not performed; however, a patient sample may be submitted for confirmation testing after the final report has been issued.

Turnaround Time (TAT)

Turnaround time from test request to final report is 45-60 days when initial sequencing was performed by the HudsonAlpha Clinical Services Lab.
Turnaround time from data receipt to final report is 14-28 days when initial sequencing was performed by an outside laboratory.
Critical results may be reported via preliminary report.

Pricing

Let’s Chat

Feel free to call us at 256-327-9670 to discuss pricing or reach out via our contact form for more information.

Data Requirements

Sequencing data generated in a CLIA laboratory. A research report may be issued for data generated in a non-CLIA laboratory.

This test(s) was developed, and performance characteristics were determined by the HudsonAlpha Clinical Services Lab, LLC. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test; however, FDA clearance or approval is not currently required for clinical use. These tests are used for clinical purposes, and therefore validation was done as required under the requirements of the Clinical Laboratory Improvement Act (CLIA) of 1988. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. The chance of a false negative or a false-positive result due to laboratory error cannot be completely excluded. These results should not be regarded as investigational or for research.