Medical Whole Genome: Clinical Whole Genome re-analysis
Test Code: 1006667
Turnaround time: 2 weeks
What is the Medical Whole Genome Analysis test ?
This CEN4GEN service is for the clinical re-interpretation/re-analysis and reporting of findings from whole human genome sequence data, as part of a comprehensive diagnostic, carrier and pharmacogenomic screen.
Can data be re-analyzed ?
Yes, upon request.
What options are available for Medical Whole Genome Analysis testing?
• Medical Whole Genome: Clinical Whole Genome Sequencing, Family Trios (Test code: 1007785)
• Medical Whole Genome: Clinical Whole Genome Sequencing, Proband Only (Test code: 1004791)
• Medical Whole Genome: Clinical Whole Genome Sequencing, Additional Family Member (Test code: 1001738)
• Medical Whole Genome: Clinical Whole Genome, interpretation only (Test code: 1006668)
• Medical Whole Genome: Clinical Whole Genome re-analysis (Test code: 1006667)
• Medical Exome Array: Deletion/Duplication Analysis (Test code: 3172)
This test is indicated for:
- Comprehensive carrier screening /Family planning
- Individuals or couples seeking to assess reproductive risk for a variety of common genetic medical conditions
- Individuals or couples of high-risk ethnic groups or backgrounds
- Comprehensive diagnostic screening of genetic medical conditions, especially when there is a suspicion of a genetic etiology
- Pharmacogenomic screening
Please submit medical records or clinic summary notes, and a signed consent form when ordering the medical whole genome testing.