Repeat Expansions Analyzed

Our whole genome platform detects the characterized repeats listed below. Follow the gene links for detailed information about reporting ranges.

Gene(s)	Repeat	Disorder	Additional Analyses That Include This STR
AFF2	CCG	Fragile XE syndrome	Genomic Unity® Epilepsy Analysis \| Genomic Unity® X-Linked Intellectual Disability Plus Analysis \| Genomic Unity® Exome Analysis \| Genomic Unity® Exome Plus Analysis \| Genomic Unity® Whole Genome Analysis \| Genomic Unity® Lightning 2.0 Analysis - NICU \| Genomic Unity® Lightning 2.0 - Standard \| Genomic Unity® 2.0 \| IriSight® Comprehensive Analysis - Prenatal
AR	CAG	Spinal and bulbar muscular atrophy	Genomic Unity® Motor Neuron Disorders Analysis \| Genomic Unity® Exome Analysis \| Genomic Unity® Exome Plus Analysis \| Genomic Unity® Whole Genome Analysis \| Genomic Unity® Lightning 2.0 Analysis - NICU \| Genomic Unity® Lightning 2.0 - Standard \| Genomic Unity® 2.0 \| IriSight® Comprehensive Analysis - Prenatal
ARX (2 tracts)*	GCN	X-linked Intellectual developmental disorder 29 and Partington syndrome	Genomic Unity® Epilepsy Analysis \| Genomic Unity® Exome Analysis \| Genomic Unity® Exome Plus Analysis \| Genomic Unity® Whole Genome Analysis \| Genomic Unity® Lightning 2.0 Analysis- NICU \| Genomic Unity® Lightning 2.0 - Standard \| Genomic Unity® 2.0
ATN1	CAG	Dentatorubral-pallidoluysian atrophy (DRPLA)	Genomic Unity® Movement Disorders Analysis \| Genomic Unity® Comprehensive Ataxia Analysis \| Genomic Unity® Ataxia Repeat Expansion Analysis \| Genomic Unity® Exome Analysis \| Genomic Unity® Exome Plus Analysis \| Genomic Unity® Whole Genome Analysis \| Genomic Unity® Lightning 2.0 Analysis - NICU \| Genomic Unity® Lightning 2.0 - Standard \| Genomic Unity® 2.0
ATXN1 ** §	CAG	Spinocerebellar ataxia 1 (SCA1)	Genomic Unity® Movement Disorders Analysis \| Genomic Unity® Comprehensive Ataxia Analysis \| Genomic Unity® Ataxia Repeat Expansion Analysis \| Genomic Unity® Exome Analysis \| Genomic Unity® Exome Plus Analysis \| Genomic Unity® Whole Genome Analysis \| Genomic Unity® Lightning 2.0 - Standard \| Genomic Unity® 2.0
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 \| Genomic Unity® Exome Analysis \| Genomic Unity® Exome Plus Analysis \| Genomic Unity® Whole Genome Analysis \| Genomic Unity® Lightning 2.0 Analysis - NICU \| Genomic Unity® Lightning 2.0 - Standard \| Genomic Unity® 2.0
ATXN2 §	CAG	Spinocerebellar ataxia 2 (SCA2)	Genomic Unity® Movement Disorders Analysis \| Genomic Unity® Comprehensive Ataxia Analysis \| Genomic Unity® Ataxia Repeat Expansion Analysis \| Genomic Unity® Exome Analysis \| Genomic Unity® Exome Plus Analysis \| Genomic Unity® Whole Genome Analysis \| Genomic Unity® Lightning 2.0 Analysis - NICU \| Genomic Unity® Lightning 2.0 - Standard \| Genomic Unity® 2.0
ATXN3 §	CAG	Spinocerebellar ataxia 3 (SCA3)	Genomic Unity® Movement Disorders Analysis \| Genomic Unity® Comprehensive Ataxia Analysis \| Genomic Unity® Ataxia Repeat Expansion Analysis \| Genomic Unity® Exome Analysis \| Genomic Unity® Exome Plus Analysis \| Genomic Unity® Whole Genome Analysis \| Genomic Unity® Lightning 2.0 Analysis - NICU \| Genomic Unity® Lightning 2.0 - Standard \| Genomic Unity® 2.0
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 \| Genomic Unity® Exome Analysis \| Genomic Unity® Exome Plus Analysis \| Genomic Unity® Whole Genome Analysis \| Genomic Unity® Lightning 2.0 Analysis - NICU \| Genomic Unity® Lightning 2.0 - Standard \| Genomic Unity® 2.0
ATXN80S §	CTG	Spinocerebellar ataxia 8 (SCA8)	Genomic Unity® Movement Disorders Analysis \| Genomic Unity® Comprehensive Ataxia Analysis \| Genomic Unity® Ataxia Repeat Expansion Analysis \| Genomic Unity® Exome Analysis \| Genomic Unity® Exome Plus Analysis \| Genomic Unity® Whole Genome Analysis \| Genomic Unity® Lightning 2.0 - Standard \| Genomic Unity® 2.0
BEAN1 ** §	TGGAA	Spinocerebellar ataxia 31 (SCA31)	Genomic Unity® Movement Disorders Analysis \| Genomic Unity® Comprehensive Ataxia Analysis \| Genomic Unity® Ataxia Repeat Expansion Analysis \| Genomic Unity® Lightning 2.0 - Standard \| Genomic Unity® 2.0
C9orf72 ** §	GGGGCC	Frontotemporal dementia and/or amyotrophic lateral sclerosis (FTD ALS1)	Genomic Unity® Motor Neuron Disorders Analysis \| Genomic Unity® Dementia Analysis \| Genomic Unity® Movement Disorders Analysis \| Genomic Unity® Exome Analysis \| Genomic Unity® Exome Plus Analysis \| Genomic Unity® Whole Genome Analysis \| Genomic Unity® Lightning 2.0 - Standard \| Genomic Unity® 2.0
CACNA1A **	CAG	Spinocerebellar ataxia 6 (SCA6)	Genomic Unity® Movement Disorders Analysis \| Genomic Unity® Comprehensive Ataxia Analysis \| Genomic Unity® Ataxia Repeat Expansion Analysis \| Genomic Unity® Exome Analysis \| Genomic Unity® Exome Plus Analysis \| Genomic Unity® Whole Genome Analysis \| Genomic Unity® Lightning 2.0 - Standard \| Genomic Unity® 2.0
CNBP §	CCTG	Myotonic dystrophy type II	Genomic Unity® Cardiomyopathy and Arrhythmia Analysis \| Genomic Unity® Neuromuscular Disorders Analysis \| Genomic Unity® Exome Analysis \| Genomic Unity® Exome Plus Analysis \| Genomic Unity® Whole Genome Analysis \| Genomic Unity® Lightning 2.0 Analysis - NICU \| Genomic Unity® Lightning 2.0 - Standard \| Genomic Unity® 2.0
CSTB	CCCCGCCCCGCG	Progressive myoclonic epilepsy, type 1A	Genomic Unity® Epilepsy Analysis \| Genomic Unity® Exome Analysis \| Genomic Unity® Exome Plus Analysis \| Genomic Unity® Whole Genome Analysis \| Genomic Unity® Lightning 2.0 Analysis - NICU \| Genomic Unity® Lightning 2.0 - Standard \| Genomic Unity® 2.0
DAB1	ATTTC	Spinocerebellar ataxia 37 (SCA37)	Genomic Unity® Movement Disorders Analysis \| Genomic Unity® Comprehensive Ataxia Analysis \| Genomic Unity® Ataxia Repeat Expansion Analysis \| Genomic Unity® Lightning 2.0 - Standard \| Genomic Unity® 2.0
DIP2B §	CGG	FRA12A fragile site	Genomic Unity® Epilepsy Analysis \| Genomic Unity® Exome Analysis \| Genomic Unity® Exome Plus Analysis \| Genomic Unity® Whole Genome Analysis \| Genomic Unity® Lightning 2.0 Analysis - NICU \| Genomic Unity® Lightning 2.0 - Standard \| Genomic Unity® 2.0
DMPK §	CTG	Myotonic dystrophy type I	Genomic Unity® Cardiomyopathy and Arrhythmia Analysis \| Genomic Unity® Neuromuscular Disorders Analysis \| Genomic Unity® X-Linked Disability Plus Analysis \| Genomic Unity® Exome Analysis \| Genomic Unity® Exome Plus Analysis \| Genomic Unity® Whole Genome Analysis \| Genomic Unity® Lightning 2.0 Analysis - NICU \| Genomic Unity® Lightning 2.0 - Standard \| Genomic Unity® 2.0 \| IriSight® Comprehensive Analysis - Prenatal
FGF14 **	GAA	Spinocerebellar ataxia 27B (SCA27B)	Genomic Unity® Movement Disorders Analysis \| Genomic Unity® Comprehensive Ataxia Analysis \| Genomic Unity® Ataxia Repeat Expansion Analysis \| Genomic Unity® Lightning 2.0 - Standard \| Genomic Unity® 2.0
FMR1	CGG	FMR1 disorders	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 \| Genomic Unity® Exome Analysis \| Genomic Unity® Exome Plus Analysis \| Genomic Unity® Whole Genome Analysis \| Genomic Unity® Lightning 2.0 Analysis - NICU \| Genomic Unity® Lightning 2.0 - Standard \| Genomic Unity® 2.0 \| IriSight® Comprehensive Analysis - Prenatal
FOXL2	GCN	Blepharophimosis, ptosis, and epicanthus inversus syndrome type II (BPES II)	Genomic Unity® Exome Analysis \| Genomic Unity® Exome Plus Analysis \| Genomic Unity® Whole Genome Analysis \| Genomic Unity® Lightning 2.0 Analysis - NICU \| Genomic Unity® Lightning 2.0 - Standard \| Genomic Unity® 2.0 \| IriSight® Comprehensive Analysis - Prenatal
FXN	GAA	Friedreich’s ataxia	Genomic Unity® Cardiomyopathy and Arrhythmia Analysis \| Genomic Unity® Movement Disorders Analysis \| Genomic Unity® Comprehensive Ataxia Analysis \| Genomic Unity® Ataxia Repeat Expansion Analysis \| Genomic Unity® Exome Analysis \| Genomic Unity® Exome Plus Analysis \| Genomic Unity® Whole Genome Analysis \| Genomic Unity® Lightning 2.0 Analysis - NICU \| Genomic Unity® Lightning 2.0 - Standard \| Genomic Unity® 2.0
GIPC1 §	GGC	Oculopharyngodistal myopathy 2 (OPDM2)	Genomic Unity® Neuromuscular Disorders Analysis \| Genomic Unity® Neuropathies Analysis \| Genomic Unity® Exome Analysis \| Genomic Unity® Exome Plus Analysis \| Genomic Unity® Whole Genome Analysis \| Genomic Unity® Lightning 2.0 Analysis - NICU \| Genomic Unity® Lightning 2.0 - Standard \| Genomic Unity® 2.0
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 \| Genomic Unity® Exome Analysis \| Genomic Unity® Exome Plus Analysis \| Genomic Unity® Whole Genome Analysis \| Genomic Unity® Lightning 2.0 Analysis - NICU \| Genomic Unity® Lightning 2.0 - Standard \| Genomic Unity® 2.0 \| IriSight® Comprehensive Analysis - Prenatal
HOXA13 (3 tracts)	GCN	Hand-foot-genital syndrome (HFGS)	Genomic Unity® Lightning 2.0 - NICU \| Genomic Unity® Lightning 2.0 - Standard \| Genomic Unity® 2.0
HTT	CAG	Huntington disease	Genomic Unity® Movement Disorders Analysis \| Genomic Unity® Exome Analysis \| Genomic Unity® Exome Plus Analysis \| Genomic Unity® Whole Genome Analysis \| Genomic Unity® Lightning 2.0 Analysis - NICU \| Genomic Unity® Lightning 2.0 - Standard \| Genomic Unity® 2.0
JPH3	CTG	Huntington disease-like 2 syndrome	Genomic Unity® Movement Disorders Analysis \| Genomic Unity® Exome Analysis \| Genomic Unity® Exome Plus Analysis \| Genomic Unity® Whole Genome Analysis \| Genomic Unity® Lightning 2.0 - Standard \| Genomic Unity® 2.0
LRP12 §	CGG	Oculopharyngodistal myopathy 1 (OPDM1)	Genomic Unity® Neuromuscular Disorders Analysis \| Genomic Unity® Neuropathies Analysis \| Genomic Unity® Exome Analysis \| Genomic Unity® Exome Plus Analysis \| Genomic Unity® Whole Genome Analysis \| Genomic Unity® Lightning 2.0 - Standard \| Genomic Unity® 2.0
NOP56 ** §	GGCCTG	Spinocerebellar ataxia 36 (SCA36)	Genomic Unity® Movement Disorders Analysis \| Genomic Unity® Comprehensive Ataxia Analysis \| Genomic Unity® Ataxia Repeat Expansion Analysis \| Genomic Unity® Exome Analysis \| Genomic Unity® Exome Plus Analysis \| Genomic Unity® Whole Genome Analysis \| Genomic Unity® Lightning 2.0 - Standard \| Genomic Unity® 2.0
NOTCH2NLC §	GGC	NOTCH2NLC-related GGC repeat expansion disorders	Genomic Unity® Movement Disorders Analysis \| Genomic Unity® Exome Analysis \| Genomic Unity® Exome Plus Analysis \| Genomic Unity® Whole Genome Analysis \| Genomic Unity® Lightning 2.0 Analysis - NICU \| Genomic Unity® Lightning 2.0 - Standard \| Genomic Unity® 2.0
PABPN1 ** §	GCN	Oculopharyngeal muscular dystrophy (OPMD)	Genomic Unity® Neuromuscular Disorders Analysis \| Genomic Unity® Exome Analysis \| Genomic Unity® Exome Plus Analysis \| Genomic Unity® Whole Genome Analysis \| Genomic Unity® Lightning 2.0 - Standard \| Genomic Unity® 2.0
PHOX2B	GCN	Congenital central hypoventilation syndrome 1 with or without Hirschsprung disease	Genomic Unity® Exome Analysis \| Genomic Unity® Exome Plus Analysis \| Genomic Unity® Whole Genome Analysis \| Genomic Unity® Lightning 2.0 Analysis - NICU \| Genomic Unity® Lightning 2.0 - Standard \| Genomic Unity® 2.0 \| IriSight® Comprehensive Analysis - Prenatal
PPP2R2B §	CAG	Spinocerebellar ataxia 12 (SCA12)	Genomic Unity® Movement Disorders Analysis \| Genomic Unity® Comprehensive Ataxia Analysis \| Genomic Unity® Ataxia Repeat Expansion Analysis \| Genomic Unity® Exome Analysis \| Genomic Unity® Exome Plus Analysis \| Genomic Unity® Whole Genome Analysis \| Genomic Unity® Lightning 2.0 - Standard \| Genomic Unity® 2.0
PRDM12	GCC	Hereditary sensory and autonomic neuropathy type VIII (HSAN8) Midfacial toddler excoriation syndrome (MiTES)	Genomic Unity® Lightning 2.0 - NICU \| Genomic Unity® Lightning 2.0 - Standard \| Genomic Unity® 2.0
PRNP **	4-base octapeptide PHGGGWGQ	Prion disease	Genomic Unity® Movement Disorders Analysis \| Genomic Unity® Comprehensive Ataxia Analysis \| Genomic Unity® Ataxia Repeat Expansion Analysis \| Genomic Unity® Lightning 2.0 - Standard \| Genomic Unity® 2.0
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 \| Genomic Unity® Exome Analysis \| Genomic Unity® Exome Plus Analysis \| Genomic Unity® Whole Genome Analysis \| Genomic Unity® Lightning 2.0 - Standard \| Genomic Unity® 2.0
RILPL1 ** §	CGG	Oculopharyngodistal myopathy type 4 (OPDM4)	Genomic Unity® Lightning 2.0 - Standard \| Genomic Unity® 2.0
RUNX2	CAG followed by GCN	Cleidocranial dysplasia (CCD)	Genomic Unity® Lightning 2.0 - NICU \| Genomic Unity® Lightning 2.0 - Standard \| Genomic Unity® 2.0
SAMD12 ** §	TTTCA	Familial adult onset myoclonic epilepsy 1	Genomic Unity® Movement Disorders Analysis \| Genomic Unity® Lightning 2.0 - Standard \| Genomic Unity® 2.0
SOX3	GCN	X-linked SOX3 GCN repeat expansion disorders	Genomic Unity® Exome Analysis \| Genomic Unity® Exome Plus Analysis \| Genomic Unity® Whole Genome Analysis \| Genomic Unity® Lightning 2.0 Analysis - NICU \| Genomic Unity® Lightning 2.0 - Standard \| Genomic Unity® 2.0 \| IriSight® Comprehensive Analysis - Prenatal
TBP §	CAG/CAA	Spinocerebellar ataxia 17 (SCA17)	Genomic Unity® Movement Disorders Analysis \| Genomic Unity® Comprehensive Ataxia Analysis \| Genomic Unity® Ataxia Repeat Expansion Analysis \| Genomic Unity® Exome Analysis \| Genomic Unity® Exome Plus Analysis \| Genomic Unity® Whole Genome Analysis \| Genomic Unity® Lightning 2.0 - Standard \| Genomic Unity® 2.0
TCF4 **	CTG or CAG	Fuchs endothelial corneal dystrophy	Genomic Unity® Exome Analysis \| Genomic Unity® Exome Plus Analysis \| Genomic Unity® Whole Genome Analysis \| Genomic Unity® Lightning 2.0 - Standard \| Genomic Unity® 2.0
VWA1	GGCGCGGAGC	Hereditary distal motor neuropathy with myopathic features (HMNMYO)	Genomic Unity® Neuromuscular Disorders Analysis \| Genomic Unity® Neuropathies Analysis \| Genomic Unity® Exome Analysis \| Genomic Unity® Exome Plus Analysis \| Genomic Unity® Whole Genome Analysis \| Genomic Unity® Lightning 2.0 Analysis - NICU \| Genomic Unity® Lightning 2.0 - Standard \| Genomic Unity® 2.0
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 \| Genomic Unity® Exome Analysis \| Genomic Unity® Exome Plus Analysis \| Genomic Unity® Whole Genome Analysis \| Genomic Unity® Lightning 2.0 - Standard \| Genomic Unity® 2.0
ZIC2	GCN	Holoprosencephaly 5	Genomic Unity® Exome Analysis \| Genomic Unity® Exome Plus Analysis \| Genomic Unity® Whole Genome Analysis \| Genomic Unity® Lightning 2.0 Analysis - NICU \| Genomic Unity® Lightning 2.0 - Standard \| Genomic Unity® 2.0 \| IriSight® Comprehensive Analysis - Prenatal

*In targeted gene panels, ARX repeat expansions will be reported only in cases where the clinical symptoms of the patient include early-onset seizures.

**As the disorders are typically adult onset, repeat expansions in these genes are not reported in minors in comprehensive analyses.

§ As the gene-disease association is mediated exclusively by repeat expansions, only repeat expansions are reported for this gene.

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