FXS / FXTAS / FXPOI (FMR1 expansions)

Spinocerebellar ataxia by expansion

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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

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FXS / FXTAS / FXPOI (FMR1 expansions)

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Turnaround time (TAT): 8 weeks

Ref. S-202008723

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.