BCM Clinical Exome Now Includes Mitochondrial Genome
For the first time, mitochondrial genome (mtDNA) analysis is now included with a whole exome sequencing clinical test. This innovation builds on what was already the most comprehensive clinical genetic test available. Now mtDNA can be analyzed in parallel with the exome sequence to give a comprehensive analysis of the nuclear exome and the mitochondrial genome.
Unlike traditional direct sequence analysis, massively parallel sequencing provides thousands of reads for each nucleotide position of the entire 16,569 bp mitochondrial genome. The high-throughput sequence data generated by massively parallel sequencing enables a more accurate quantification of low-level mtDNA heteroplasmy sequence changes and detection of deletions with breakpoints.
Our focus is on finding the genetic cause of the patient's medical problems. To accomplish this goal, we have teamed up with the Human Genome Sequencing Center to launch whole exome sequencing. With over 30,000 exomes sequenced and over 600 clinical patient samples received, our team has the experience necessary to not only deliver high quality sequence data, but also a clinical report that is relevant to the patient’s indications for testing. All mutations reported are validated with Sanger sequencing, and all results are called to the referring center by a certified genetic counselor. In addition, the director who analyzed and signed out the case is also available to discuss in detail the patient’s results.
If you are considering introducing exome sequencing to your clinic, we are available to describe our program in depth. If you have a patient you are considering for exome sequencing but would like to first verify insurance benefits, our staff is available to help with prior-authorizations. Our initial experience with insurance reimbursement has been favorable and similar to other types of genetic testing.
For further information on exome sequencing, including if you would like to receive a price quotation, please email us at
- Prior-authorization Request Form
- Whole Exome Sequencing Test Information (Test Code: 1500)
- Whole Exome Sequencing Requisition