Our laboratory will be closed Friday, July 3rd in observance of Independence Day

Long-read sequencing for repeat expansions now available!

Effective June 22, 2026, our laboratory has expanded its repeat expansion testing capabilities through the implementation of long-read sequencing technology. Long-read sequencing provides more accurate repeat sizing and enables improved characterization of complex repeat expansions, enhancing the quality and detail of test results. PCR/repeat-primed PCR methods will continue to be used in conjunction with long-read sequencing when indicated.

Buccal swab specimens no longer accepted for repeat expansion panel testing

As our laboratory implements long-read sequencing for repeat expansion panel testing, which requires high-quality, high-molecular-weight DNA, buccal swab specimens will no longer be accepted for repeat expansion panel testing. Blood and saliva specimens remain acceptable and are well suited for long-read sequencing analysis. Buccal swab specimens continue to be accepted for single gene repeat expansion testing.

Analysis of HK1 regulatory region is now included in Tier 1 Panel: Diazoxide Unresponsive Hyperinsulinism panel!

Our rapid Tier 1 Panel: Diazoxide Unresponsive Hyperinsulinism test now includes Sanger sequencing and deletion/duplication analysis (via MLPA) of a non-coding cis-regulatory element in intron 2 of the HK1 gene that has been described in individuals with congenital hyperinsulinism (PMID: 40033430, 36333503).