Medical Exome: Clinical Exome Sequencing, Additional Family Member
Test Code: 1738
Turnaround time:4 weeks
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 the analysis of an additional family member (affected or unaffected) to assist better diagnosing findings that have unclear significance.
The Medical Exome analysis test 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.
• Medical Exome: Clinical Exome Sequencing, Trios (Test code: 7785)
• Medical Exome: Clinical Exome Sequencing, Proband Only (Test code: 4791)
• Medical Exome Array: Deletion/Duplication Analysis (Test code: 3172)