Repeat Expansions 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, Genomic Unity® Lightning 2.0 Genome Analysis – NICU, and/or IriSight® Comprehensive Analysis – Prenatal tests. The relevant tests are noted in the following table. Follow the gene links for detailed information about reporting ranges.

Genomic Unity® 2.0, Genomic Unity® Lightning 2.0 Genome Analysis – Standard, and Genomic Unity® Lightning 2.0 Genome Analysis – NICU analyze additional repeats not available in other tests. The additional repeats are listed in a second, separate table.

Gene(s)

Repeat

Disorder

Additional Analyses That Include This STR

CCG

Fragile XE syndrome

CAG

Spinal and bulbar muscular atrophy

GCN

X-linked Intellectual developmental disorder 29 and Partington syndrome

Genomic Unity® Epilepsy Analysis | Genomic Unity® Lightning 2.0 Analyses

CAG

Dentatorubral-pallidoluysian atrophy (DRPLA)

ATXN1** §

CAG

Spinocerebellar ataxia 1 (SCA1)

ATTCT

Spinocerebellar ataxia 10 (SCA10)

CAG

Spinocerebellar ataxia 2 (SCA2)

CAG

Spinocerebellar ataxia 3 (SCA3)

CAG

Spinocerebellar ataxia 7 (SCA7)

CTG

Spinocerebellar ataxia 8 (SCA8)

C9orf72** §

GGGGCC

Frontotemporal dementia and/or amyotrophic lateral sclerosis (FTD ALS1)

CAG

Spinocerebellar ataxia 6 (SCA6)

CNBP §

CCTG

Myotonic dystrophy type II

CCCCGCCCCGCG

Progressive myoclonic epilepsy, type 1A

Genomic Unity® Epilepsy Analysis | Genomic Unity® Lightning 2.0 Analyses

CGG

FRA12A fragile site

Genomic Unity® Epilepsy Analysis | Genomic Unity® Lightning 2.0 Analyses

DMPK §

CTG

Myotonic dystrophy type I

CGG

FMR1 disorders

GCN

Blepharophimosis, ptosis, and epicanthus inversus syndrome type II (BPES II)

Genomic Unity® Lightning 2.0 Analyses | IriSight® Comprehensive Analysis - Prenatal

GAA

Friedreich’s ataxia

GGC

Oculopharyngodistal myopathy 2 (OPDM2)

GCA

Global developmental delay, progressive ataxia, and elevated glutamine (GDPAG)

CAG

Huntington disease

Genomic Unity® Movement Disorders Analysis | Genomic Unity® Lightning 2.0 Analyses

CTG

Huntington disease-like 2 syndrome

CGG

Oculopharyngodistal myopathy 1 (OPDM1)

NOP56** §

GGCCTG

Spinocerebellar ataxia 36 (SCA36)

GGC

NOTCH2NLC-related GGC repeat expansion disorders

Genomic Unity® Movement Disorders Analysis | Genomic Unity® Lightning 2.0 Analyses

PABPN1** §

GCN

Oculopharyngeal muscular dystrophy (OPMD)

GCN

Congenital central hypoventilation syndrome 1 with or without Hirschsprung disease

Genomic Unity® Lightning 2.0 Analyses | IriSight® Comprehensive Analysis - Prenatal

CAG

Spinocerebellar ataxia 12 (SCA12)

AAGGG and other pathogenic repeats

Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS)

GCN

X-linked SOX3 GCN repeat expansion disorders

Genomic Unity® Lightning 2.0 Analyses | IriSight® Comprehensive Analysis - Prenatal

TBP §

CAG/CAA

Spinocerebellar ataxia 17 (SCA17)

CTG or CAG

Fuchs endothelial corneal dystrophy

See comprehensive analyses above

GGCGCGGAGC

Hereditary distal motor neuropathy with myopathic features (HMNMYO)

GGC

Spinocerebellar ataxia 4 (SCA4)

GCN

Holoprosencephaly 5

Genomic Unity® Lightning 2.0 Analyses | 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.

Additional repeats analyzed by Genomic Unity® 2.0 and Genomic Unity® Lightning 2.0 Analyses

Gene(s)

Repeat

Disorder

2.0 Analyses That Include This STR

BEAN1** §

TGGAA

Spinocerebellar ataxia 31 (SCA31)

ATTTC

Spinocerebellar ataxia 37 (SCA37)

GAA

Spinocerebellar ataxia 27B (SCA27B)

HOXA13 (3 tracts)

GCN

Hand-foot-genital syndrome (HFGS)

GCC

Hereditary sensory and autonomic neuropathy type VIII (HSAN8)
Midfacial toddler excoriation syndrome (MiTES)

4-base octapeptide PHGGGWGQ

Prion disease

RILPL1 ** §

CGG

Oculopharyngodistal myopathy type 4 (OPDM4)

CAG followed by GCN

Cleidocranial dysplasia (CCD)

TTTCA

Familial adult onset myoclonic epilepsy 1

**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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