Dentatorubral-pallidoluysian atrophy (DRPLA). CAG expansions in the ATN1 gene [1 gene]

Spinocerebellar ataxia by expansion

Request study Informed consent
Steps to follow
Steps to follow
Click here to see the Guidelines for the collection and transport of biological samples

1) Download & fill out

Please cover as many fields as possible in both documents

2) Sample collection

See sample types in the guidelines

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 Monday–Friday: 8am – 5pm

5) Result: the report

Via: e-mail and/or through the customer portal

Ask for information
Solicita información de

Dentatorubral-pallidoluysian atrophy (DRPLA). CAG expansions in the ATN1 gene

"*" indicates required fields

Consentimiento*
This field is for validation purposes and should be left unchanged.
Technique: Fragment Analysis

Turnaround time (TAT): 20 days

Ref. S-202008724

Dentatorubral-pallidoluysian atrophy (DRPLA). CAG expansions in the ATN1 gene: View panel
  • ATN1

Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.

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.