Medical Exome: Clinical Exome Sequencing, Proband Only
Test Code: 4791
Turnaround time:4 weeks
What is the Medical Exome Analysis test ?
CEN4GEN uses a molecular genomic-based platform for the analysis of the whole exome as part of a comprehensive diagnostic and carrier screen of genetic diseases. This test is for a single individual or proband.
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)
The Medical Exome analysis is indicated when there is a suspicion of a genetic etiology contributing to the proband’s manifestations.
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.
Please submit medical records or clinic summary notes, and a signed consent form when ordering exome testing. Testing will not be initiated until these documents are received.