TANDEM REPEAT EXPANSIONS
Diagnostic Testing
with Genomic Unity®
Tandem repeat expansions tested
More than 20 known pathogenic loci are covered by Genomic Unity® testing
A significant number of inherited disorders are caused by the pathogenic expansion of tandem repeats – short sequences of DNA, typically 1 to 6 nucleotides in length, that repeat consecutively. Most repeats within the genome do not have a discernible function, but some have the potential to become pathogenic when the number of repeats exceeds a particular threshold.
Our WGS-based Genomic Unity® testing methodology detects repeat expansions in the following important genes.
*HTT and JPH3 testing requires special consent.
Sensitivity and reporting policies differ by loci. The false negative rate for repeat expansions has not been determined for the following genes: AFF2, AFF3, ATXN10, CNBP, CSTB, DIP2B, JPH3, NOTCH2NLC, PHOX2B, TBP, TCF4.
The following genes can be assessed for normal repeat ranges only: AFF3, DIP2B, JPH3, NOTCH2NLC, TCF4. Repeat counts falling outside the normal range will be reported as indeterminate.
To learn more about how we detect and analyze tandem repeat expansions, read our blog post: Detecting short tandem repeats using WGS.