Test Code: 4791

Medical Exome: Clinical Exome Sequencing, Proband Only
Test Code: 4791
Turnaround time: 12 weeks

What is the Medical Exome Analysis test ?
The human exome is the complete coding (exonic) region of the genome. It is estimated to encompass approximately 1-2% of the genome, yet contains approximately 85% of disease-causing pathogenic variants. Current off-the-shelf exome kits used for clinical exome sequencing cover 92% of the exome. Traditionally, gene discovery has been done in research laboratories; however, now with the ability to sequence nearly the entire coding region of the human genome, it is possible for clinical laboratories to use this information to identify a previously unrecognized cause of disease.

The Medical Exome Analysis is the next level in clinical exome sequencing. The exome sequencing design 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.

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)

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) 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.