Expanded coverage of repeat expansion loci

repeat expansion loci


With a growing number of different pathogenic repeat expansions linked to human disease, genetic testing for this unique class of mutations is an important component of the diagnostic process for many patients. Particularly those experiencing symptoms associated with developmental delay, neuromuscular and neurodegenerative disorders.

In previous posts, we’ve talked about the role of repeat expansions in fragile X syndrome and inherited ataxias. We’ve also detailed the strategy that our proprietary algorithms use to detect these and other repeat expansions as part of our Genomic Unity™ test. A test which is uniquely based on clinical whole genome sequencing (WGS).

Today we’re excited to share that we’ve expanded the number of pathogenic repeat expansion loci covered in this single genetic test to a total of 21!

Pathogenic repeat expansion loci screened by Genomic Unity

Loci Repeat Disorder
AFF2 CCG Fragile XE syndrome
AFF3 CGG FRA2A fragile site
AR CAG Spinal and bulbar muscular atrophy
ATN1 CAG Dentatorubral-pallidoluysian atrophy (DRPLA)
ATXN1 CAG Spinocerebellar ataxia
ATXN10 ATTCT Spinocerebellar ataxia
ATXN2 CAG Spinocerebellar ataxia
ATXN3 CAG Spinocerebellar ataxia
ATXN7 CAG Spinocerebellar ataxia
ATXN8OS CTG Spinocerebellar ataxia
C9ORF72 GGGGC Frontotemporal dementia and/or amyotrophic lateral sclerosis (FTDALS1)
CACNA1A CAG Spinocerebellar ataxia
CNBP CCTG Myotonic dystrophy type II
CSTB CCCCGCCCCGCG Myoclonus epilepsy
DIP2B CGG FRA12A fragile site
DMPK CTG Myotonic dystrophy type I
FMR1 CGG Fragile X syndrome
FXN GAA Friedreich’s ataxia
HTT CAG Huntington disease
JPH3 CTG Huntington disease-like 2 syndrome
PPP2R2B CAG Spinocerebellar ataxia

Note: Data is current as of January 10, 2019. The most up-to-date list can be found in the downloadable brochures section of the clinical resources page.

The expansion is the result of ongoing refinement and calibration of our algorithms.


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