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DRPLA (ATN1 expansions)
Spinocerebellar ataxia by expansion
Request study
Informed consent
Steps to follow
Ask for information
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
Solicita información de
DRPLA (ATN1 expansions)
Turnaround time (TAT): 8 weeks
Ref. S-202008724
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.