Casandra
Casandra Test Code QD71784Version 1 (DRAFT)
Performing Lab
Dystonia (DYT1) DNA Test
Clinical Use
Order TestUse
Detects GAG deletion in the DYT1 gene in patients with early-onset torsion dystonia (Primary Torsion Dystonia), enabling diagnosis in cases of generalized or focal idiopathic dystonia.
Special Instructions
Not provided.
Limitations
Not provided.
Test Details
Methodology
PCR‑based (PCR)
Biomarkers
DYT1
GeneFragment Size Analysis • Mutation • Categorical (e.g., Positive / Negative / Indeterminate)
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen Requirements
Specimen
Whole Blood
Volume
8 mL (6 mL minimum); pediatric 0‑3 years: 2 mL (1 mL minimum)
Minimum Volume
Not provided
Container
Lavender‑top EDTA tube (two tubes)
Collection Instructions
Label each specimen tube with two forms of patient identification; same on requisition form.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 10 days |
| Refrigerated | 10 days |
| Frozen | Unacceptable |
Related Tests
Other tests from different labs that may be relevant
Dystonia Panel
Prevention Genetics
Invitae Dystonia Comprehensive Panel
Invitae Corporation
Dystonia and Parkinsonism Panel
GeneDx
DMPK DNA Test (DM1)
Mayo Clinic Lab
DMPK Repeat Analysis
GeneDx
Myotonia Panel
GeneDx
Myotonic Dystrophy 1 (DMPK) Genetic Testing (Repeat Expansion)
Labcorp
Myotonic Dystrophy Type 1 Repeat Expansion Analysis
Baylor Genetics
Dentatorubral-Pallidoluysian Atrophy (DRPLA) via the ATN1 CAG Repeat Expansion
Prevention Genetics
Myotonic Dystrophy Type 1 (DMPK) CTG Expansion
ARUP Laboratories