Approximately 20% of known pathogenic disease causing variants are outside the coding regions, and are not detected through exome sequencing. Whole genome sequencing (WGS) is a novel diagnostic tool used to identify disease causing variants in deep intronic and intergenic regions, in addition to variants in all human coding sequences. The MNGenome® has the ability to detect all nuclear sequencing variants and missing or duplicated genetic information from small indels to large copy number variations. In addition, we completely assess the mitochondrial genome for any changes in sequencing, depletion, deletion, and heteroplasmy. A truly novel aspect of our genome is its ability to detect repeat expansions across all known pathogenic loci. It is a truly comprehensive approach to the diagnosis of genetic disorders, and is the best option to end your patients’ diagnostic odyssey.
The MNGenome® can be used if other methods such as WES and CMA failed to provide diagnostic or prognostic insight into a patient’s condition, or suggest a therapeutic approach. MNGenome® will increase the probability of a correct diagnosis and suitable treatment options.
It is preferred that MNGenome® samples are sent as trios to allow for better variant classification and actionable reports, but we do accept proband only testing.
At the pinnacle of molecular diagnostic testing, the MNGenome® includes:
- >99% of mappable regions of the genome are sequenced at >30X coverage
- Pathogenic SNV detection across the entire genome
- Mitochondrial sequencing, depletion, and deletion analysis with heteroplasmy assessment
- Single nucleotide resolution copy number analysis with junction identification
- Uniparental disomy detection
- Repeat expansion detection with confirmation by alternative technology
- Turnaround time of 2-6 weeks, STAT option of <2 weeks available
MNG Laboratories is committed to a patient-centered testing menu, high-quality diagnostics, and first-in-class reporting driven by our Genome MaNaGer® analysis pipeline. Our Neurogenetic Answers™ reporting process helps us stay at the forefront of the evolving genetics field with our regularly-updated NGS panels. Our team-based approach to variant assessment ensures we provide you with the variants that cause or are likely to cause disease and keep the number of variants of unknown significance to a minimum. Our comprehensive approach to diagnostics is accompanied by a team of customer support and scientific personnel available to answer your questions regarding our process, technology, and reports. Please contact us to learn more about how we may serve you and your patients.