Test Code: 4791

Medical Exome: Clinical Exome Sequencing, Proband Only
Test Code: 4791
Turnaround time: 2 to 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: Interpretation Only (Exome) (Test code: 4795)

INDICATION
The Medical Exome analysis 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