Medical Exome: Clinical Exome Sequencing, Additional Family Member
Test Code: 1738
Turnaround time: 2 to 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.
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: Interpretation Only (Exome) (Test code: 4795)
INDICATIONS
The Medical Exome analysis test is indicated when there is a suspicion of a genetic etiology contributing to the proband’s manifestations.
DETECTION
Unknown.
SPECIMEN REQUIREMENTS
Type: Whole Blood
Specimen Requirements:
In EDTA (purple top): 2-10 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.
