Exome: Sanger Confirmation and Interpretation Only
Test Code: 1463
Turnaround time: 12 weeks
What is the Medical Exome Analysis test ?
This CEN4GEN service is for the confirmation using sanger sequencing, of variants previously identified from exome sequencing, and the clinical interpretation and reporting of findings, as part of a comprehensive diagnostic, carrier, and predisposition risk screen.
Can data be re-analyzed ?
Yes, upon request.
What options are available for Medical Exome Analysis testing?
• Medical Exome: Clinical Exome Sequencing, Trios (Test code: 7785)
• Medical Exome: Clinical Exome Sequencing, Proband Only (Test code: 4791)
• Medical Exome: Clinical Exome Sequencing, Additional Family Member (Test code: 1138)
• Medical Exome Array: Deletion/Duplication Analysis (Test code: 3172)
• Medical Exome: Sanger Confirmation and Interpretation Only (Test code: 1463)
• Medical Exome: Interpretation Only (Exome or Genome) (Test code: 4795)
This service is offered for exomes sequenced by other third party clinical or core laboratories.
Type: Whole Blood
In EDTA (purple top) or ACD (yellow top) tube: 5-10 ml for all ages
Specimen Collection and Shipping: Refrigerate until time of shipment. Ship sample within 5 days of collection at room temperature with overnight delivery.