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:
- Genomic Unity® 2.0
- Genomic Unity® Whole Genome Analysis
- Genomic Unity® Exome Plus Analysis
- Genomic Unity® Exome Analysis.
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.
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* |
AFF2 | CCG | Fragile XE syndrome | |
AR | CAG | Spinal and bulbar muscular atrophy | |
ARX* (2 tracts) | CGC | X-linked Intellectual developmental disorder 29 and Partington syndrome | |
ATN1 | CAG | Dentatorubral-pallidoluysian atrophy (DRPLA) | |
ATXN1 | CAG | Spinocerebellar ataxia 1 (SCA1) | |
ATXN10 | ATTCT | Spinocerebellar ataxia 10 (SCA10) | |
ATXN2 | CAG | Spinocerebellar ataxia 2 (SCA2) | |
ATXN3 | CAG | Spinocerebellar ataxia 3 (SCA3) | |
ATXN7 | CAG | Spinocerebellar ataxia 7 (SCA7) | |
ATXN80S | CTG | Spinocerebellar ataxia 8 (SCA8) | |
C9ORF72 | GGGGCC | Frontotemporal dementia and/or amyotrophic lateral sclerosis (FTDALS1) | |
CACNA1A | CAG | Spinocerebellar ataxia 6 (SCA6) | |
CNBP | CCTG | Myotonic dystrophy type II | |
CSTB | CCCCGCCCCGCG | Myoclonus epilepsy | |
DIP2B | CGG | FRA12A fragile site | |
DMPK | CTG | Myotonic dystrophy type I | |
FGF14 | GAA | Late-onset spinocerebellar ataxia 27B (SCA27B) | |
FMR1 | CGG | Fragile X syndrome | |
FOXL2 | GCN | Blepharophimosis, ptosis, and epicanthus inversus syndrome type II (BPES II) | See comprehensive analyses above |
FXN | GAA | Friedreich’s ataxia | |
GIPC1 | GGC | Oculopharyngodistal myopathy 2 (OPDM2) | |
GLS | GCA | Global developmental delay, progressive ataxia, and elevated glutamine (GDPAG) | |
HTT | CAG | Huntington disease | |
JPH3 | CTG | Huntington disease-like 2 syndrome | |
LRP12 | CGG | Oculopharyngodistal myopathy 1 (OPDM1) | |
NOP56 | GGCCTG | Spinocerebellar ataxia 36 (SCA36) | |
NOTCH2NLC | GGC | Neuronal intranuclear inclusion disease | |
PHOX2B | Alanine | Congenital central hypoventilation syndrome | See comprehensive analyses above |
PPP2R2B | CAG | Spinocerebellar ataxia 12 (SCA12) | |
RFC1 | AAGGG and other pathogenic repeats | Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) | |
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) | |
TCF4 | CAG | Fuchs endothelial corneal dystrophy | See comprehensive analyses above |
VWA1 | GGCGCGGAGC | Hereditary distal motor neuropathy with myopathic features (HMNMYO) | |
ZFHX3 | GGC | Spinocerebellar ataxia 4 (SCA4) | |
ZIC2 | GCN | Holoprosencephaly 5 | See comprehensive analyses above |
Please note: Genomic Unity® Lightning Genome Analysis, IriSight® Comprehensive Analysis – Prenatal and IriSight® Comprehensive Analysis – Pregnancy Loss 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.
Additional repeats analyzed by Genomic Unity® 2.0
Gene(s) | Repeat | Disorder | Analyses That Include This STR |
BEAN1 | TGGAA | Spinocerebellar ataxia 31 (SCA31) | |
HOXA13 | GCN | Hand-foot-genital syndrome (HFGS) | |
PRDM12 | GCC | Hereditary sensory and autonomic neuropathy type VIII (HSAN8) | |
PRNP | 24-base octapeptide PHGGGWGQ | Prion diseases | |
RILPL1 | CGG | Oculopharyngodistal myopathy type 4 (OPDM4) | |
RUNX2 | CAG followed by GCN | Cleidocranial dysplasia (CCD) | |
SAMD12 | (TTTTA)₇TTA (TTTTA)₁₃ | Benign adult familial myoclonic epilepsy (BAFME) |