Whole exome sequencing can provide a genetic diagnosis for about 30% of patients, leaving a large portion of those tested with inconclusive results.1 Reflexing up to whole genome sequencing allows assessment of noncoding genomic regions, and transcriptome analysis testing allows for functional assessment of variants affecting regulatory regions.
The MNGenome® is whole genome sequencing that includes detection of all nuclear sequencing variants and missing or duplicated genetic information from small indels to large copy number variations. In addition, the mitochondrial genome is assessed for any changes in sequencing, depletion, deletion, and heteroplasmy. A unique aspect of the genome is its ability to detect repeat expansions across all known pathogenic loci.
The MNG Transcriptome is a cutting-edge, powerful analysis tool that uses RNA sequencing to determine what effect, if any, Variants of Uncertain Significance (VUS) may have on the transcription of RNA from DNA, especially those found in splice site regions.
For trio MNGenome sequencing performed on samples that are already at MNG (including parentals), please note this on the requisition form, and complete the family member information section in its entirety. For a new trio being submitted (if previous testing was proband-only), please complete the family member information in its entirety, and ensure all familial samples are sent. A consent form and clinical information should have already been submitted with initial MNG Exome testing and is not needed a second time.
Please note that testing will not begin until all family members’ samples and completed paperwork have been received. MNGenome STAT options are not included with the MNG Answers program, but may be ordered separately.
For any RNA sequencing please call MNG prior to ordering to ensure that the genes of interest are expressed in the sample type to be submitted. MNG will provide an RNA collection kit for blood samples.
For all RNA sequencing please call MNG prior to ordering to ensure that the genes of interest are expressed in the sample type to be submitted. MNG will provide an RNA collection kit for blood samples.
MNG encourages any new or updated clinical information to be submitted as it may help with variant interpretation. Please also include information regarding any additional testing that has been performed on the proband or family members.
Vissers LELM, van Nimwegen KJM, Schieving JH, et al. A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology. Genet Med. 2017;19(9):1055–1063. doi:10.1038/gim.2017.1