Test Code: 1738

Medical Exome: Clinical Exome Sequencing, Additional Family Member
Test Code: 1738
Turnaround time: 12 weeks

Traditionally there are two options when ordering exome sequencing. One can analyze only the affected individual (proband only) or a family trio (typically the affected person and his/her parents). Analyzing trios has shown to increase the diagnostic yield of exome sequencing by providing deeper insights into the proband’s findings. CEN4GEN also offers an additional family member option to further increase the clinical efficacy of its exome sequencing. This test allows clinicians to submit an additional child or family member (affected or unaffected) to assist better diagnosing findings that have unclear significance.

The sequencing design of the Medical Exome analysis provides >97% coverage of 22,000 genes, with a mean read depth of 100X. Of the ~4600 disease-associated genes analyzed, 3000 have 100% coverage (≥20X) of all exons; twice the number of genes with complete coverage offered by competitors, making it the most comprehensive exome sequencing test available, with highest coverage.

Please note this test should be ordered at the same time as the “Medical Exome: Clinical Exome Sequencing, Family Trios” (test code: 7785).

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) 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.

SPECIAL INSTRUCTIONS
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.

RELATED TESTS
• 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)