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GTR Home > Tests > Dystonia Exome

Overview

Test name

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Dystonia Exome

Purpose of the test

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This is a clinical test intended for Help: Diagnosis, Monitoring, Mutation Confirmation, Pre-symptomatic, Risk Assessment, Screening

Condition

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Click Indication tab for more information.

How to order

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•All samples should be shipped via overnight delivery at room temperature. •No weekend or holiday deliveries. •Label each specimen with the patient’s name, date of birth and date sample collected. •Send specimens with complete requisition and consent form, otherwise, specimen processing may be delayed.
Order URL Help: http://dnatesting.uchicago.edu/submitting-sample

Specimen source

Isolated DNA
Peripheral (whole) blood
Saliva

Methodology

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Molecular Genetics
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)

Summary of what is tested

Click Methodology tab for more information.

Clinical utility

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Establish or confirm diagnosis

Citations
  • 1. Balint B, Bhatia KP. Dystonia: an update on phenomenology, classification, pathogenesis and treatment. Curr Opin Neurol 2014: 27: 468-476. 2. Lohmann K, Klein C. Update on the Genetics of Dystonia. Curr Neurol Neurosci Rep 2017: 17: 26. 3. van Egmond ME, Kuiper A, Eggink H et al. Dystonia in children and adolescents: a systematic review and a new diagnostic algorithm. J Neurol Neurosurg Psychiatry 2015: 86: 774-781. 4. Stoessl AJ, Mckeown MJ. Movement disorders. Handb Clin Neurol 2016: 136: 957-969. 5. Friedman J, Roze E, Abdenur JE et al. Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy. Ann Neurol 2012: 71: 520-530. 6. Furukawa Y, Kish SJ. Dopa-responsive dystonia: recent advances and remaining issues to be addressed. Mov Disord 1999: 14:709-715.

Clinical validity

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Not provided

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Confirmation of research findings
  • Custom Prenatal Testing
  • Custom mutation-specific/Carrier testing

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.