MNG Exome Reflex Testing Options

Whole exome sequencing can provide a genetic diagnosis for about 25% of patients1, leaving a large portion of those tested with inconclusive results. 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 our whole genome sequencing offering that 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.

The MNG Transcriptome is a cutting-edge, powerful analysis tool that uses RNA sequencing to determine what effect, if any, Variants of Uncertain Significance may have on the transcription of RNA from DNA, especially those found in splice site regions.


How to Order

The MNG Answers Test Request Form should be used to order reflexive testing from whole exome sequencing.


Whole Genome Sequencing

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.

Pricing
  • Proband-Only: $4,400
  • TRIO: $6,900

Please note that testing will not begin until all family members’ samples and completed paperwork have been received. MNGenome Xpress options are not included with the MNG Answers™ program, but may be ordered separately.

RNA Sequencing

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.

Pricing
  • Gene-Specific RNA Sequencing: $845
  • Full Transcriptome: $1,485

We encourage 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.


1 – Yang, Y., et al., Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders. New England Journal of Medicine, 2013. 369(16): p. 1502-1511.