Isolated Dystonia Evaluation
Clinical Genetic Test
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offered by
GTR Test Accession: Help GTR000515308.2
INHERITED DISEASENERVOUS SYSTEM
Last updated in GTR: 2017-01-05
Last annual review date for the lab: 2023-12-01 LinkOut
At a Glance
Diagnosis; Pre-symptomatic; Predictive
Early-onset generalized limb-onset dystonia; Torsion dystonia 6
Genes (2): Help
THAP1 (8p11.21), TOR1A (9q34.11)
Molecular Genetics - Sequence analysis of the entire coding region: Bi-directional Sanger Sequence Analysis; ...
Not provided
Not provided
Not provided
Ordering Information
Offered by: Help
Athena Diagnostics
View lab's website
Test Order Code: Help
639
Informed consent required: Help
Based on applicable state law
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Conditions Help
Total conditions: 2
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 2
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 2
Method Category Help
Test method Help
Instrument *
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
Targeted variant analysis
Trinucleotide repeat by PCR or Southern Blot
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Pre-symptomatic; Predictive
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Bi-directional Sanger Sequence: Analytical sensitivity, specificity and accuracy are = 99%. Trinucleotide repeat by PCR or Southern Blot: Analytical sensitivity, specificity and accuracy are = 99%.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Alternative Assessment
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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