This month, UCGS launched our new "custom RNA splicing analysis" test, a clinically validated customized assay designed to test the effect of previously identified germline DNA sequence variants on RNA splicing. 

This unique clinical testing option can be utilized in certain situtations to help clarify the clinical significance of a variant, by evaluating whether the variant may lead to aberrant splicing. Our clinical team is available to help you determine if custom RNA splicing analysis might be appropriate for a patient with a variant of unknown significance identified. 

Typically variants that fit the following criteria are good candidates for custom RNA splicing analysis:

  • In-silico predictions on the variant suggest a deleterious effect on splicing
  • The variant is in a gene associated with a disorder that fits the patient’s phenotype
  • The mRNA of tested gene/transcript is expressed at a detectable level in blood and/or skin

If you are interested in sending a sample to us for custom RNA splicing analysis, please contact us at 773-834-0555. If your case is a good candidate for this testing we will arrange to ship a PreAnalytix PAXgene Blood RNA tube to you for blood collection from the affected individual.