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. The relevant tests are noted in the following table. Follow the gene links for detailed information about reporting ranges.

Genomic Unity® 2.0 analyzes additional repeats not available in other tests. The additional repeats are listed in a second, separate table.

Gene(s)

Repeat

Disorder

Neurology Analyses and/or Other Targeted Analyses That Include This STR*

CCG

Fragile XE syndrome

CAG

Spinal and bulbar muscular atrophy

CGC

X-linked Intellectual developmental disorder 29 and Partington syndrome

CAG

Dentatorubral-pallidoluysian atrophy (DRPLA)

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)

GGGGCC

Frontotemporal dementia and/or amyotrophic lateral sclerosis (FTDALS1)

CAG

Spinocerebellar ataxia 6 (SCA6)

CCTG

Myotonic dystrophy type II

CCCCGCCCCGCG

Myoclonus epilepsy

CGG

FRA12A fragile site

CTG

Myotonic dystrophy type I

GAA

Late-onset spinocerebellar ataxia 27B (SCA27B)

CGG

Fragile X syndrome

GCN

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

See comprehensive analyses above

GAA

Friedreich’s ataxia

GGC

Oculopharyngodistal myopathy 2 (OPDM2)

GCA

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

CAG

Huntington disease

CTG

Huntington disease-like 2 syndrome

CGG

Oculopharyngodistal myopathy 1 (OPDM1)

GGCCTG

Spinocerebellar ataxia 36 (SCA36)

GGC

Neuronal intranuclear inclusion disease

GCN

Oculopharyngeal muscular dystrophy (OPMD)

See comprehensive analyses above

Alanine

Congenital central hypoventilation syndrome

See comprehensive analyses above

CAG

Spinocerebellar ataxia 12 (SCA12)

AAGGG and other pathogenic repeats

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

GCN

X linked intellectual developmental disorder with isolated growth hormone deficiency X linked panhypopituitarism

See comprehensive analyses above

Glutamine

Spinocerebellar ataxia 17 (SCA17)

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

See comprehensive analyses above

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

*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.

Additional repeats analyzed by Genomic Unity® 2.0

Gene(s)

Repeat

Disorder

Analyses

That Include This STR

TGGAA

Spinocerebellar ataxia 31 (SCA31)

GCN

Hand-foot-genital syndrome (HFGS)

GCC

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

24-base octapeptide PHGGGWGQ

Prion diseases

CGG

Oculopharyngodistal myopathy type 4 (OPDM4)

CAG followed by GCN

Cleidocranial dysplasia (CCD)

(TTTTA)₇TTA (TTTTA)₁₃

Benign adult familial myoclonic epilepsy (BAFME)

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

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