Tandem Repeats Analyzed

Our whole genome platform detects the characterized repeats listed below.

All of the listed repeats are analyzed by the following Comprehensive Analyses:

Some of the listed repeats are analyzed by our Neurology Analyses and/or Other Targeted Analyses. The relevant tests are noted in the following table.

Gene(s)	Repeat	Disorder	Neurology Analyses and/or Other Targeted Analyses That Include This STR*
AFF2	CCG	Fragile XE syndrome	Genomic Unity® Epilepsy Analysis \| Genomic Unity® X-Linked Intellectual Disability Plus Analysis
AR	CAG	Spinal and bulbar muscular atrophy	Genomic Unity® Motor Neuron Disorders Analysis
ARX (2 tracts)	CGC	X-linked Intellectual developmental disorder 29 and Partington syndrome	Genomic Unity® Movement Disorders Analysis \| Genomic Unity® Epilepsy Analysis
ATN1	CAG	Dentatorubral-pallidoluysian atrophy (DRPLA)	Genomic Unity® Movement Disorders Analysis \| Genomic Unity® Comprehensive Ataxia Analysis \| Genomic Unity® Ataxia Repeat Expansion Analysis
ATXN1	CAG	Spinocerebellar ataxia 1 (SCA1)	Genomic Unity® Movement Disorders Analysis \| Genomic Unity® Comprehensive Ataxia Analysis \| Genomic Unity® Ataxia Repeat Expansion Analysis
ATXN10	ATTCT	Spinocerebellar ataxia 10 (SCA10)	Genomic Unity® Movement Disorders Analysis \| Genomic Unity® Comprehensive Ataxia Analysis \| Genomic Unity® Ataxia Repeat Expansion Analysis \| Genomic Unity® Renal Disorders Analysis
ATXN2	CAG	Spinocerebellar ataxia 2 (SCA2)	Genomic Unity® Movement Disorders Analysis \| Genomic Unity® Comprehensive Ataxia Analysis \| Genomic Unity® Ataxia Repeat Expansion Analysis
ATXN3	CAG	Spinocerebellar ataxia 3 (SCA3)	Genomic Unity® Movement Disorders Analysis \| Genomic Unity® Comprehensive Ataxia Analysis \| Genomic Unity® Ataxia Repeat Expansion Analysis
ATXN7	CAG	Spinocerebellar ataxia 7 (SCA7)	Genomic Unity® Movement Disorders Analysis \| Genomic Unity® Comprehensive Ataxia Analysis \| Genomic Unity® Ataxia Repeat Expansion Analysis \| Genomic Unity® Retinal Disorders Analysis
ATXN80S	CTG	Spinocerebellar ataxia 8 (SCA8)	Genomic Unity® Movement Disorders Analysis \| Genomic Unity® Comprehensive Ataxia Analysis \| Genomic Unity® Ataxia Repeat Expansion Analysis
C9ORF72	GGGGCC	Frontotemporal dementia and/or amyotrophic lateral sclerosis (FTDALS1)	Genomic Unity® Motor Neuron Disorders Analysis \| Genomic Unity® Dementia Analysis
CACNA1A	CAG	Spinocerebellar ataxia 6 (SCA6)	Genomic Unity® Movement Disorders Analysis \| Genomic Unity® Comprehensive Ataxia Analysis \| Genomic Unity® Ataxia Repeat Expansion Analysis
CNBP	CCTG	Myotonic dystrophy type II	Genomic Unity® Neuromuscular Disorders Analysis
CSTB	CCCCGCCCCGCG	Myoclonus epilepsy	Genomic Unity® Epilepsy Analysis
DIP2B	CGG	FRA12A fragile site	Genomic Unity® Epilepsy Analysis
DMPK	CTG	Myotonic dystrophy type I	Genomic Unity® Neuromuscular Disorders Analysis \| Genomic Unity® X-Linked Disability Plus Analysis
FGF14	GAA	Late-onset spinocerebellar ataxia 27B (SCA27B)	Genomic Unity® Movement Disorders Analysis \| Genomic Unity® Comprehensive Ataxia Analysis \| Genomic Unity® Ataxia Repeat Expansion Analysis
FMR1	CGG	Fragile X syndrome	Genomic Unity® Movement Disorders Analysis \| Genomic Unity® Comprehensive Ataxia Analysis \| Genomic Unity® Ataxia Repeat Expansion Analysis \| Genomic Unity® Epilepsy Analysis \| Genomic Unity® X-Linked Intellectual Disability Plus Analysis \| Genomic Unity® Genome-wide CNV and FMR1 Analysis
FOXL2	GCN	Blepharophimosis, ptosis, and epicanthus inversus syndrome type II (BPES II)	See comprehensive analyses above
FXN	GAA	Friedreich’s ataxia	Genomic Unity® Movement Disorders Analysis \| Genomic Unity® Comprehensive Ataxia Analysis \| Genomic Unity® Ataxia Repeat Expansion Analysis
GIPC1	GGC	Oculopharyngodistal myopathy 2 (OPDM2)	Genomic Unity® Neuromuscular Disorders Analysis \| Genomic Unity® Neuropathies Analysis
GLS	GCA	Global developmental delay, progressive ataxia, and elevated glutamine (GDPAG)	Genomic Unity® Movement Disorders Analysis \| Genomic Unity® Comprehensive Ataxia Analysis \| Genomic Unity® Ataxia Repeat Expansion Analysis \| Genomic Unity® Epilepsy Analysis
HTT	CAG	Huntington disease	Genomic Unity® Movement Disorders Analysis
JPH3	CTG	Huntington disease-like 2 syndrome	Genomic Unity® Movement Disorders Analysis
LRP12	CGG	Oculopharyngodistal myopathy 1 (OPDM1)	Genomic Unity® Neuromuscular Disorders Analysis \| Genomic Unity® Neuropathies Analysis
NOP56	GGCCTG	Spinocerebellar ataxia 36 (SCA36)	Genomic Unity® Movement Disorders Analysis \| Genomic Unity® Comprehensive Ataxia Analysis \| Genomic Unity® Ataxia Repeat Expansion Analysis
NOTCH2NLC	GGC	Neuronal intranuclear inclusion disease	Genomic Unity® Movement Disorders Analysis
PABPN1	GCN	Oculopharyngeal muscular dystrophy	See comprehensive analyses above
PHOX2B	Alanine	Congenital central hypoventilation syndrome	See comprehensive analyses above
PPP2R2B	CAG	Spinocerebellar ataxia 12 (SCA12)	Genomic Unity® Movement Disorders Analysis \| Genomic Unity® Comprehensive Ataxia Analysis \| Genomic Unity® Ataxia Repeat Expansion Analysis
RFC1	AAGGG and other pathogenic repeats	Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS)	Genomic Unity® Movement Disorders Analysis \| Genomic Unity® Comprehensive Ataxia Analysis \| Genomic Unity® Ataxia Repeat Expansion Analysis \| Genomic Unity® Neuromuscular Disorders Analysis \| Genomic Unity® Neuropathies Analysis
SOX3	GCN	X linked intellectual developmental disorder with isolated growth hormone deficiency X linked panhypopituitarism	See comprehensive analyses above
TBP	Glutamine	Spinocerebellar ataxia 17 (SCA17)	Genomic Unity® Movement Disorders Analysis \| Genomic Unity® Comprehensive Ataxia Analysis \| Genomic Unity® Ataxia Repeat Expansion Analysis
TCF4	CAG	Fuchs endothelial corneal dystrophy	See comprehensive analyses above
VWA1	GGCGCGGAGC	Hereditary distal motor neuropathy with myopathic features (HMNMYO)	Genomic Unity® Neuromuscular Disorders Analysis \| Genomic Unity® Neuropathies Analysis
ZIC2	GCN	Holoprosencephaly 5	See comprehensive analyses above
ZFHX3	GGC	Spinocerebellar ataxia 4 (SCA4)	Genomic Unity® Movement Disorders Analysis \| Genomic Unity® Comprehensive Ataxia Analysis \| Genomic Unity® Ataxia Repeat Expansion Analysis \| Genomic Unity® Neuromuscular Disorders Analysis \| Genomic Unity® Neuropathies Analysis

* Please note: Genomic Unity® Lightning Genome Analysis, IriSight^TM Prenatal Analysis and IriSight^TM for Pregnancy Loss are not addressed in this table. Please see the relevant test page for more information about repeats analyzed by these tests.