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.

Gene	Repeat	Disorder	Tests included in
AFF2	CCG	Fragile XE syndrome	Genomic Unity^® Intellectual Disability Analysis Genomic Unity^® Epilepsy Analysis Genomic Unity^® Neurology Analysis Genomic Unity^® Exome Analysis Genomic Unity^® Whole Genome Analysis
AFF3	CGG	FRA2A fragile site	Genomic Unity^® Intellectual Disability Analysis Genomic Unity^® Epilepsy Analysis Genomic Unity^® Neurology Analysis Genomic Unity^® Exome Analysis Genomic Unity^® Whole Genome Analysis
AR	CAG	Spinal and bulbar muscular dystrophy	Genomic Unity^® AR Analysis Genomic Unity^® Motor Neuron Disorders Analysis Genomic Unity^® Neurology Analysis Genomic Unity^® Exome Analysis Genomic Unity^® Whole Genome Analysis
ATN1	CAG	Dentatorubral-pallidoluysian atrophy (DRPLA)	Genomic Unity^® Movement Disorders Analysis Genomic Unity^® Neurology Analysis Genomic Unity^® Exome Analysis Genomic Unity^® Whole Genome Analysis
ATXN1	CAG	Spinocerebellar ataxia 1 (SCA1)	Genomic Unity^® Ataxia Repeat Expansion Analysis Genomic Unity^® Comprehensive Ataxia Analysis Genomic Unity^® Movement Disorders Analysis Genomic Unity^® Neurology Analysis Genomic Unity^® Exome Analysis Genomic Unity^® Whole Genome Analysis
ATXN2	CAG	Spinocerebellar ataxia 2 (SCA2)	Genomic Unity^® Ataxia Repeat Expansion Analysis Genomic Unity^® Comprehensive Ataxia Analysis Genomic Unity^® Movement Disorders Analysis Genomic Unity^® Neurology Analysis Genomic Unity^® Exome Analysis Genomic Unity^® Whole Genome Analysis
ATXN3	CAG	Spinocerebellar ataxia 3 (SCA3)	Genomic Unity^® Ataxia Repeat Expansion Analysis Genomic Unity^® Comprehensive Ataxia Analysis Genomic Unity^® Movement Disorders Analysis Genomic Unity^® Neurology Analysis Genomic Unity^® Exome Analysis Genomic Unity^® Whole Genome Analysis
ATXN7	CAG	Spinocerebellar ataxia 7 (SCA7)	Genomic Unity^® Ataxia Repeat Expansion Analysis Genomic Unity^® Comprehensive Ataxia Analysis Genomic Unity^® Movement Disorders Analysis Genomic Unity^® Neurology Analysis Genomic Unity^® Exome Analysis Genomic Unity^® Whole Genome Analysis
ATXN8OS	CTG	Spinocerebellar ataxia 8 (SCA8)	Genomic Unity^® Ataxia Repeat Expansion Analysis Genomic Unity^® Comprehensive Ataxia Analysis Genomic Unity^® Movement Disorders Analysis Genomic Unity^® Neurology Analysis Genomic Unity^® Exome Analysis Genomic Unity^® Whole Genome Analysis
ATXN10	ATTCT	Spinocerebellar ataxia 10 (SCA10)	Genomic Unity^® Ataxia Repeat Expansion Analysis Genomic Unity^® Comprehensive Ataxia Analysis Genomic Unity^® Movement Disorders Analysis Genomic Unity^® Neurology Analysis Genomic Unity^® Exome Analysis Genomic Unity^® Whole Genome Analysis
C9ORF72	GGGGCC	Frontotemporal dementia and/or amyotrophic lateral sclerosis (FTDALS1)	Genomic Unity^® Motor Neuron Disorders Analysis Genomic Unity^® Neurology Analysis Genomic Unity^® Exome Analysis Genomic Unity^® Whole Genome Analysis
CACNA1A	CAG	Spinocerebellar ataxia 6 (SCA6)	Genomic Unity^® CACNA1A Analysis Genomic Unity^® Ataxia Repeat Expansion Analysis Genomic Unity^® Comprehensive Ataxia Analysis Genomic Unity^® Movement Disorders Analysis Genomic Unity^® Neurology Analysis Genomic Unity^® Exome Analysis Genomic Unity^® Whole Genome Analysis
CNBP	CCTG	Myotonic dystrophy type II	Genomic Unity^® Neuromuscular Disorders Analysis Genomic Unity^® Neurology Analysis Genomic Unity^® Exome Analysis Genomic Unity^® Whole Genome Analysis
CSTB	CCCCGCCCCGCG	Myoclonic epilepsy	Genomic Unity^® CSTB Analysis Genomic Unity^® Epilepsy Analysis Genomic Unity^® Neurology Analysis Genomic Unity^® Exome Analysis Genomic Unity^® Whole Genome Analysis
DIP2B	CGG	Fragile X syndrome	Genomic Unity^® Intellectual Disability Analysis Genomic Unity^® Epilepsy Analysis Genomic Unity^® Neurology Analysis Genomic Unity^® Exome Analysis Genomic Unity^® Whole Genome Analysis
DMPK	CTG	Myotonic dystrophy type I	Neuromuscular Disorders Analysis Genomic Unity^® Neurology Analysis Genomic Unity^® Exome Analysis Genomic Unity^® Whole Genome Analysis
FMR1	CGG	Fragile X syndrome	Genomic Unity^® Intellectual Disability Analysis Genomic Unity^® Epilepsy Analysis Genomic Unity^® Neurology Analysis Genomic Unity^® Exome Analysis Genomic Unity^® Whole Genome Analysis
FXN	GAA	Friedreich’s ataxia	Genomic Unity^® FXN Analysis Genomic Unity^® Ataxia Repeat Expansion Analysis Genomic Unity^® Comprehensive Ataxia Analysis Genomic Unity^® Movement Disorders Analysis Genomic Unity^® Neurology Analysis Genomic Unity^® Exome Analysis Genomic Unity^® Whole Genome Analysis
HTT*	CAG	Huntington disease	Genomic Unity^® Movement Disorders Analysis Genomic Unity^® Neurology Analysis Genomic Unity^® Exome Analysis Genomic Unity^® Whole Genome Analysis
JPH3*	CTG	Huntington disease-like 2	Genomic Unity^® Movement Disorders Analysis Genomic Unity^® Neurology 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^® Neurology Analysis Genomic Unity^® Exome Analysis Genomic Unity^® Whole Genome Analysis
NOTCH2NLC	GGC	Neuronal intranuclear inclusion disease	Genomic Unity^® Movement Disorders Analysis Genomic Unity^® Neurology Analysis Genomic Unity^® Exome Analysis Genomic Unity^® Whole Genome Analysis
PHOX2B	Alanine	Congenital central hypoventilation syndrome	Genomic Unity^® Exome Analysis Genomic Unity^® Whole Genome Analysis
PPP2R2B	CAG	Spinocerebellar ataxia 12 (SCA12)	Genomic Unity^® Ataxia Repeat Expansion Analysis Genomic Unity^® Comprehensive Ataxia Analysis Genomic Unity^® Movement Disorders Analysis Genomic Unity^® Neurology Analysis Genomic Unity^® Exome Analysis Genomic Unity^® Whole Genome Analysis
TBP	Glutamine	Spinocerebellar ataxia 17 (SCA17)	Genomic Unity^® Ataxia Repeat Expansion Analysis Genomic Unity^® Comprehensive Ataxia Analysis Genomic Unity^® Movement Disorders Analysis Genomic Unity^® Neurology Analysis Genomic Unity^® Exome Analysis Genomic Unity^® Whole Genome Analysis
TCF4	CAG	Fuchs 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, 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.

TANDEM REPEAT EXPANSIONS

Tandem repeat expansions tested

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