Test Name & Code:
• Test Name: DYT-1 Mutation Analysis
• Test Code: 3191
• Test Code: 3191
Related Diseases & Genes:
• “Dystonia, early-onset atypical, with myoclonic features” || Gene: TOR1A (OMIM #: 605204)
• “Dystonia-1, torsion” (OMIM #: 128100)
• “Dystonia-1, torsion” (OMIM #: 128100)
Synonyms:
• TORSIN 1A
• DYT1 GENE
• DYT1 GENE
Test Details:
• Methodology: DNA Sequencing
• Performed: Everyday
• Reported: 3 weeks
• Performed: Everyday
• Reported: 3 weeks
Specimen Details:
• Specimen Collection: Peripheral blood
• Container: Tube with EDTA
• Specimen Volume/Amount: > 5 ml
• Storage/Transport Condition: Refrigerated
• Unacceptable Specimens/Conditions: Serum; Frozen specimens; Hemolyzed specimens; Icterus; Lipemia
• Container: Tube with EDTA
• Specimen Volume/Amount: > 5 ml
• Storage/Transport Condition: Refrigerated
• Unacceptable Specimens/Conditions: Serum; Frozen specimens; Hemolyzed specimens; Icterus; Lipemia
Testing Area(s):
• Neurogenetics
