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.

GeneRepeatDisorderTests included in
AFF2CCGFragile XE syndrome

Genomic Unity® Intellectual Disability Analysis

Genomic Unity® Epilepsy Analysis

Genomic Unity® Exome Analysis

Genomic Unity® Whole Genome Analysis

ARCAGSpinal and bulbar muscular dystrophy

Genomic Unity® Motor Neuron Disorders Analysis

Genomic Unity® Prenatal Analysis

Genomic Unity® Exome Analysis

Genomic Unity® Whole Genome Analysis

ATN1CAGDentatorubral-pallidoluysian atrophy (DRPLA)

Genomic Unity® Movement Disorders Analysis

Genomic Unity® Exome Analysis

Genomic Unity® Whole Genome Analysis

ATXN1CAGSpinocerebellar ataxia 1 (SCA1)

Genomic Unity® Ataxia Repeat Expansion Analysis

Genomic Unity® Comprehensive Ataxia Analysis

Genomic Unity® Movement Disorders Analysis

Genomic Unity® Exome Analysis

Genomic Unity® Whole Genome Analysis

ATXN2CAGSpinocerebellar ataxia 2 (SCA2)

Genomic Unity® Ataxia Repeat Expansion Analysis

Genomic Unity® Comprehensive Ataxia Analysis

Genomic Unity® Movement Disorders Analysis

Genomic Unity® Exome Analysis

Genomic Unity® Whole Genome Analysis

ATXN3CAGSpinocerebellar ataxia 3 (SCA3)

Genomic Unity® Ataxia Repeat Expansion Analysis

Genomic Unity® Comprehensive Ataxia Analysis

Genomic Unity® Movement Disorders Analysis

Genomic Unity® Exome Analysis

Genomic Unity® Whole Genome Analysis

ATXN7CAGSpinocerebellar ataxia 7 (SCA7)

Genomic Unity® Ataxia Repeat Expansion Analysis

Genomic Unity® Comprehensive Ataxia Analysis

Genomic Unity® Movement Disorders Analysis

Genomic Unity® Exome Analysis

Genomic Unity® Whole Genome Analysis

ATXN8OSCTGSpinocerebellar ataxia 8 (SCA8)

Genomic Unity® Ataxia Repeat Expansion Analysis

Genomic Unity® Comprehensive Ataxia Analysis

Genomic Unity® Movement Disorders Analysis

Genomic Unity® Exome Analysis

Genomic Unity® Whole Genome Analysis

ATXN10ATTCTSpinocerebellar ataxia 10 (SCA10)

Genomic Unity® Ataxia Repeat Expansion Analysis

Genomic Unity® Comprehensive Ataxia Analysis

Genomic Unity® Movement Disorders Analysis

Genomic Unity® Exome Analysis

Genomic Unity® Whole Genome Analysis

C9ORF72GGGGCCFrontotemporal dementia and/or amyotrophic lateral sclerosis (FTDALS1)

Genomic Unity® Motor Neuron Disorders Analysis 

Genomic Unity® Exome Analysis

Genomic Unity® Whole Genome Analysis

CACNA1ACAGSpinocerebellar ataxia 6 (SCA6)

Genomic Unity® Ataxia Repeat Expansion Analysis

Genomic Unity® Comprehensive Ataxia Analysis

Genomic Unity® Movement Disorders Analysis

Genomic Unity® Exome Analysis

Genomic Unity® Whole Genome Analysis

CNBPCCTGMyotonic dystrophy type II

Genomic Unity® Neuromuscular Disorders Analysis

Genomic Unity® Exome Analysis

Genomic Unity® Whole Genome Analysis

CSTBCCCCGCCCCGCGMyoclonic epilepsy

Genomic Unity® Epilepsy Analysis

Genomic Unity® Exome Analysis

Genomic Unity® Whole Genome Analysis

DIP2BCGGFragile X syndrome

Genomic Unity® Epilepsy Analysis

Genomic Unity® Exome Analysis

Genomic Unity® Whole Genome Analysis

DMPKCTGMyotonic dystrophy type I

Genomic Unity® Neuromuscular Disorders Analysis

Genomic Unity® Prenatal Analysis

Genomic Unity® Exome Analysis

Genomic Unity® Whole Genome Analysis

FMR1CGGFragile X syndrome

Genomic Unity® Intellectual Disability Analysis

Genomic Unity® Epilepsy Analysis

Genomic Unity® Prenatal Analysis

Genomic Unity® Exome Analysis

Genomic Unity® Whole Genome Analysis

FXNGAAFriedreich’s ataxia

Genomic Unity® FXN Analysis

Genomic Unity® Ataxia Repeat Expansion Analysis

Genomic Unity® Comprehensive Ataxia Analysis

Genomic Unity® Movement Disorders Analysis

Genomic Unity® Prenatal Analysis

Genomic Unity® Exome Analysis

Genomic Unity® Whole Genome Analysis

HTT*CAGHuntington disease

Genomic Unity® Movement Disorders Analysis

Genomic Unity® Exome Analysis

Genomic Unity® Whole Genome Analysis

JPH3*CTGHuntington disease-like 2

Genomic Unity® Movement Disorders Analysis

Genomic Unity® Exome Analysis

Genomic Unity® Whole Genome Analysis

NOP56 Spinocerebellar ataxia 36 (SCA36)

Genomic Unity® Ataxia Repeat Expansion Analysis

Genomic Unity® Comprehensive Ataxia Analysis

Genomic Unity® Movement Disorders Analysis

Genomic Unity® Exome Analysis

Genomic Unity® Whole Genome Analysis

NOTCH2NLCGGCNeuronal intranuclear inclusion disease

Genomic Unity® Movement Disorders Analysis

Genomic Unity® Exome Analysis

Genomic Unity® Whole Genome Analysis

PABPN1GCGOculopharyngeal muscular dystrophy

Genomic Unity® Exome Analysis

Genomic Unity® Whole Genome Analysis

PHOX2BAlanineCongenital central hypoventilation syndrome

Genomic Unity® Exome Analysis

Genomic Unity® Whole Genome Analysis

PPP2R2BCAGSpinocerebellar ataxia 12 (SCA12)

Genomic Unity® Ataxia Repeat Expansion Analysis

Genomic Unity® Comprehensive Ataxia Analysis

Genomic Unity® Movement Disorders Analysis

Genomic Unity® Exome Analysis

Genomic Unity® Whole Genome Analysis

TBPGlutamineSpinocerebellar ataxia 17 (SCA17)

Genomic Unity® Ataxia Repeat Expansion Analysis

Genomic Unity® Comprehensive Ataxia Analysis

Genomic Unity® Movement Disorders Analysis

Genomic Unity® Exome Analysis

Genomic Unity® Whole Genome Analysis

TCF4CAGFuchs endothelial corneal dystrophy

Genomic Unity® Exome Analysis

Genomic Unity® Whole Genome Analysis

*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, ATXN10, CNBP, CSTB, DIP2B, JPH3, NOTCH2NLC, PHOX2B, TBP, TCF4.

The following genes can be assessed for normal repeat ranges only: 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.

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