Expansions

LabGenetics has almost 20 years of experience in the study of repeat expansions. We have oligonucleotides designed and validated for the molecular approach of diseases caused by repeat expansions (screening PCR and TP-PCR).

Expansions that we carry out:

Friedreich’s ataxia (FRDA)

FXN gene GAA triplet expansion analysis (FRDA): Screening+ TP-PCR (Triplet Repeat Primed PCR)

Dominantly inherited spinocerebellar ataxia (SCAs)

SCA Panel-1: SCA1, SCA2&SCA3 – Expansion + TP-PCR

SCA Panel-2: SCA6, SCA7&SCA8 – Expansion + TP-PCR

SCA Panel-3: SCA10, SCA12, SCA17, SCA36- Expansion+TP-PCR

CAG triplet expansion of the SCA1 gene (ATXN1) + TP-PCR

CAG triplet expansion of the SCA2 gene (ATXN2) + TP-PCR

CAG triplet expansion of the SCA3 gene (ATXN3) + TP-PCR

CAG triplet expansion of the SCA6 gene (CACNA1A) + TP-PCR

CAG triplet expansion of the SCA7 gene (ATXN7) + TP-PCR

(CTA) expansion analysis (CTG) of the SCA8 gene (ATXN8OS)

ATTCT expansion analysis of the SCA10 gene (ATXN10)

CAG triplet expansion of the SCA12 gene (PPP2R2B) + TP-PCR

CAA/CAG expansion analysis of the SCA17 gene (TBP)

(GGCCTG)n expansion in the NOP56 gene (SCA36) + TP-PCR

Dentatorubropallidoluisian atrophy (DRPLA)

CAG triplet expansion analysis of the DRPLA (atrophin 1) gene

Kennedy spinobulbar atrophy

Analysis of the CAG triplet expansion of the AR gene

Brachydactyly Type D & Type E

Analysis of the (GCN)n expansion in exon 1 – HOXD13 gene

Huntington’s Korea

Analysis of the CAG triplet expansion of the HTT (HD) gene

Huntington’s Korea – Like 2

Analysis of the expansion of the CTG triplet of the JPH3 gene

Frontotemporal dementia

Expansion (GGGGCC)n in the C9ORF72 gene (incl. TP-PCR)

Myotonic dystrophy type 1 (Steinert)

Analysis of the CTG triplet expansion of the DMPK gene: Screening + TP-PCR (Triplet Repeat Primed PCR)

Myotonic dystrophy type 2

Analysis of the CCTG expansion of the CNBP gene (ZNF9)

Oculopharyngeal muscular dystrophy

Detection of CGC expansion in the PABPN1 gene

Progressive myoclonic epilepsy type 1a (Unverricht-Lundborg syndrome)

Expansion of a dodecamer in the CSTB gene (EPM1A)

Autosomal dominant amyotrophic lateral sclerosis (ALS)

Expansion (GGGGCC)n in the C9ORF72 gene (incl. TP-PCR)

Syndactyly type 2 (Synpolydactyly)

Analysis of the (GCN)n expansion in exon 1 – HOXD13 gene

Congenital central hypoventilation syndrome (Ondine syndrome)

Analysis of poly-Ala triplet expansion of the PHOX2B gene

Unverricht-Lundborg syndrome

Expansion of a dodecamer in the CSTB gene (EPM1A)

Fragile X syndrome (FRAX)

PCR-Screening of the CGG triplet expansion – FMR-1 gene

SEARCH BY DISEASE OR GENE

Search for disease or gene

Request information

LabGenetics offers a comprehensive genetic diagnostic service, personalized, flexible to the requirements of health professionals, and continuously introduces new genetic diagnostics of hereditary and rare diseases in its portfolio of services. Our goal is to establish close collaborations that allow us to obtain accurate and appropriate results for each case, as quickly and economically as possible.