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 | |
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) | |
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) | |
ZIC2 | GCN | Holoprosencephaly 5 | See comprehensive analyses above |
ZFHX3 | GGC | Spinocerebellar ataxia 4 (SCA4) |
Please note: Genomic Unity® Lightning Genome Analysis, IriSightTM Prenatal Analysis and IriSightTM for 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 | Qculopharyngodistal myopathy type 4 (OPDM4) | |
RUNX2 | CAG followed by GCN | Cleidocranial dysplasia (CCD) | |
SAMD12 | (TTTTA)₇TTA (TTTTA)₁₃ | Benign adult familial myoclonic epilepsy (BAFME) |