Expansions

At LabGenetics, we have nearly 20 years of experience in the study of repeat expansions. We offer validated and custom-designed oligonucleotides for the molecular analysis of diseases caused by repeat expansions (screening PCR and TP-PCR).

Repeat Expansions We Perform:

Ataxia, Friedreich (Frda)

Analysis of (GAA)n expansion of FXN: Screening and TP-PCR

Spinocerebellar Ataxia, Autosomal Dominant (Scas)

Analysis of CAG repeat expansion in SCA1 (ATXN1) and TP-PCR

Spinocerebellar Ataxia, Autosomal Dominant (Scas)

SCA PANEL-1: SCA1, SCA2 and SCA3 – Expansion and TP-PCR

Spinocerebellar Ataxia, Autosomal Dominant (Scas)

Analysis of ATTCT repeat expansion in SCA10 (ATXN10)

Spinocerebellar Ataxia, Autosomal Dominant (Scas)

SCA PANEL-3: SCA10, SCA12, SCA17 and SCA36 – Expansion and TP-PCR

Spinocerebellar Ataxia, Autosomal Dominant (Scas)

Analysis of CAG repeat expansion in SCA2 (ATXN2) and TP-PCR

Spinocerebellar Ataxia, Autosomal Dominant (Scas)

Analysis of CAG repeat expansion in SCA3 (ATXN3) and TP-PCR

Spinocerebellar Ataxia, Autosomal Dominant (Scas)

Analysis of CAG repeat expansion in SCA7 (ATXN7) and TP-PCR

Spinocerebellar Ataxia, Autosomal Dominant (Scas)

Analysis of (CTA)nCTG repeat expansion in SCA8 (ATXN8OS)

Spinocerebellar Ataxia, Autosomal Dominant (Scas)

Analysis of CAG repeat expansion in SCA6 (CACNA1A) and TP-PCR

Spinocerebellar Ataxia, Autosomal Dominant (Scas)

SCA PANEL-2: SCA6, SCA7 and SCA8 – Expansion and TP-PCR

Spinocerebellar Ataxia, Autosomal Dominant (Scas)

Analysis of GGCCTG repeat expansion in NOP56/SCA36 and TP-PCR

Spinocerebellar Ataxia, Autosomal Dominant (Scas)

Analysis of CAG repeat expansion in SCA12 (PPP2R2B) and TP-PCR

Spinocerebellar Ataxia, Autosomal Dominant (Scas)

Analysis of CAA/CAG repeat expansion in SCA17 (TBP)

Atrophy, Dentatorubral Pallidoluysian (Drpla)

Analysis of CAG repeat expansion in DRPLA

Spinobulbar Muscular Atrophy (Kennedy Disease)

Analysis of CAG repeat expansion in AR

Huntington Disease

Analysis of CAG repeat expansion in HTT (HD)

Huntington Disease-Like 2

Analysis of CTG repeat expansion in JPH3

Huntington Disease-Like 4

Analysis of CAA/CAG repeat expansion in TBP

Frontotemporal Dementia

Analysis of GGGGCC repeat expansion in C9ORF72 (incl. TP-PCR)

Myotonic Dystroph Type 1 (Steinert)

Analysis of CTG repeat expansion in DMPK – Screening and TP-PCR

Myotonic Dystrophy Type 2

Analysis of CCTG repeat in CNBP (ZNF9)

Muscular Dystrophy, Oculopharyngeal

Analysis of CGC repeat expansion in PABPN1

Epilepsy, Progressive Myoclonic Type 1A (Unverricht- Lundborg Syndrome )

Analysis of a dodecamer repeat expansion in CSTB (EPM1A)

Amyotrophic Lateral Sclerosis (Als), Autosomal Dominant

Analysis of GGGGCC repeat expansion in C9ORF72 (incl. TP-PCR)

Hypoventilation Syndrome, Congenital Central (Ondine Syndrome)

Analysis of poli-Ala repeat expansion in PHOX2B

Unverricht- Lundborg Syndrome

Analysis of a dodecamer repeat expansion in CSTB (EPM1A)

Fragile X Syndrome (Frax)

PCR-Screening of the CGG repeat expansion in FMR-1

Spinocerebellar Ataxia, Autosomal Dominant (Scas)

Analysis of GAA repeat expansion in FGF14 (SCA27B)

Cerebellar Ataxia With Neuropathy And Vestibular Areflexia Syndrome (Canvas)

Analysis of the AAGGG expansion of the RFC1 gene + TP-PCR

Brachydactyly Type D And Type E

Analysis of GCN repeat expansion in exon 1 of HOXD13

Syndactyly Type 2 (Sinpolydactyly)

Analysis of GCN repeat expansion in exon 1 of HOXD13

Hypoventilation Syndrome, Congenital Central (Ondine Syndrome)

Analysis of poli-Ala repeat expansion in PHOX2B

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LabGenetics offers a comprehensive, personalized genetic diagnostic service that is flexible to the needs of healthcare professionals. We continuously introduce new genetic tests for hereditary and rare diseases to our service portfolio. Our goal is to establish close collaborations that enable precise and appropriate results for each case, delivered as quickly and cost-effectively as possible.