SCA expansion studies – Panel 1 (SCA1, SCA2, SCA3, SCA6, SCA7)

Spinocerebellar ataxia by expansion

The prevalence of spinocerebellar ataxia (SCA) in the general population is estimated to be 2.7 per 100,000 individuals (Ruano et al., 2014). Friedreich ataxia is the most common hereditary ataxia in Caucasians, with an estimated incidence of 1/29,000 individuals and a frequency of 1/85 carriers. Between 2% and 13% of late-onset and sporadic ataxia cases are caused by nucleotide expansions detected by specific PCR/TP-PCR studies (Abele et al., 2002). Anticipation, consisting of early-onset and/or more severe disease in subsequent generations, is a characteristic phenomenon of ataxias. Apart from testing for nucleotide repeat expansions, we have designed NGS panels for the detection of point variants and CNVs in genes responsible for SCA (SPG7, SETX, SACS, AFG3L2, or SYNE1, among others; Galatolo et al., 2017), which we offer structured according to the mode of inheritance (autosomal dominant or autosomal recessive).

Request study Informed consent
Steps to follow
Steps to follow

How to order

1. Download & fill out

Please cover as many fields as possible in both documents

2. Sample collection

Three sample types: saliva, peripheral blood or genomic DNA

3. Pack the sample

Please pack the sample in a way to prevent leakage

4. Send the sample & the request

Please schedule the delivery for Mon–Thur: 8am – 5pm

5. Result: the report

Via: Client Site HIC / Client Site Imegen / Certified email

Ask for information
Solicita información de

SCA expansion studies - Panel 1 (SCA1, SCA2, SCA3, SCA6, SCA7)

"*" indicates required fields

Consentimiento*
This field is for validation purposes and should be left unchanged.

Turnaround time (TAT): 8 weeks

Ref. S-202008193

References

  • Abele M, Bürk K, Schöls L, Schwartz S, Besenthal I, Dichgans J, Zühlke C, Riess O, Klockgether T. The aetiology of sporadic adult-onset ataxia. Brain. 2002 May;125(5):961-8.
  • Galatolo D, Tessa A, Filla A, Santorelli FM. Clinical application of next generation sequencing in hereditary spinocerebellar ataxia: increasing the diagnostic yield and broadening the ataxia-spasticity spectrum. A retrospective analysis. Neurogenetics. 2018 Jan;19(1):1-8.
  • Ruano L, Melo C, Silva MC, Coutinho P. The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies. Neuroepidemiology. 2014;42(3):174-83.