Test code: 6667

Medical Exome: Clinical Exome Reanalysis
Test Code: 6667
Turnaround time: 4 weeks

CONDITION DESCRIPTION

What is the Medical Exome reanalysis ?
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 reanalysis is the next level in clinical exome sequencing offered by CEN4GEN. 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.

Will CEN4GEN release raw exome data?
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)
• Medical Exome: Clinical Exome Reanalysis (Test code: 6667)

INDICATIONS
This test should be ordered when a reanalysis of the Medical Exome offered by CEN4GEN is desired.

 

DETECTION
Unknown

 

SPECIAL INSTRUCTIONS
Please submit any updated medical records or clinic summary notes since the original Medical Exome was ordered.

 

RELATED TESTS
• 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)