Early-Onset Primary Dystonia (DYT1)
GTR Test Accession: Help GTR000327570.2
INHERITED DISEASENERVOUS SYSTEM
Last updated in GTR: 2013-12-17
Last annual review date for the lab: 2023-12-11 LinkOut
At a Glance
Diagnosis; Mutation Confirmation; Risk Assessment; ...
Early-onset generalized limb-onset dystonia
Genes (1): Help
TOR1A (9q34.11)
Molecular Genetics - Targeted variant analysis: PCR sizing to detect common deletion
Not provided
Not provided
Not provided
Ordering Information
Offered by: Help
MVZ Dr. Eberhard & Partner Dortmund
View lab's website
View lab's test page
Test short name: Help
TOR1A DYT1
Specimen Source: Help
Test Order Code: Help
Torsion dystonia, DYT1
Contact Policy: Help
Post-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
How to Order: Help
EDTA-blood, DNA, other peripheral whole blood samples (not frozen). Other specimen after consultation.
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Genetic counseling
Result interpretation
Test additional service: Help
Custom mutation-specific/Carrier testing
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Yes
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Targeted variant analysis
PCR sizing to detect common deletion
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Risk Assessment; Screening
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
Identified variants are documented in-house and are comprehensively evaluated using mutation databases and literature by scientific and medical directors.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes.
Recommended fields not provided:
Technical Information
Test Comments: Help
Detection of the three-base pair deletion c.907_909delGAG (sometimes referred to as 946delGAG) in TOR1A.
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytical sensitivity and specificity >99%
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Inter-Laboratory
VUS:
Software used to interpret novel variations Help
A collection of bioinformatic tools.

Laboratory's policy on reporting novel variations Help
Novel variations are evaluated and reported if suspected relevant.
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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