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Complete Dopa-Responsive Dystonia (DYT5) Eval
Test Code93970
CPT Codes
81405, 81406, 81479
Preferred Specimen
8 mL whole blood collected in two EDTA (lavender-top) tube, or
Pediatric (0-3 Years): 2 mL
Pediatric (0-3 Years): 2 mL
Minimum Volume
6 mL • Pediatric: 1 mL
Instructions
Physician Attestation of Informed Consent- This germline genetic test requires physician attestation that patient consent has been received. Non-critical
Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the test requisition.
Higher blood volumes ensure adequate DNA quantity, which varies with WBC, specimen condition, and need for confirmatory testing. Patients 0-3 years have higher WBC, yielding more DNA per mL of blood.
Notes: DNA yields and quality are better in fresh specimens. However, when necessary, most genetic tests are successful from DNA purified from whole blood that is several days old.
Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the test requisition.
Higher blood volumes ensure adequate DNA quantity, which varies with WBC, specimen condition, and need for confirmatory testing. Patients 0-3 years have higher WBC, yielding more DNA per mL of blood.
Notes: DNA yields and quality are better in fresh specimens. However, when necessary, most genetic tests are successful from DNA purified from whole blood that is several days old.
Transport Temperature
Room temperature
Specimen Stability
Room temperature: 10 days
Refrigerated: 10 days
Frozen: Unacceptable
Refrigerated: 10 days
Frozen: Unacceptable
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
Gross hemolysis
Methodology
Sanger Sequencing • Multiplex Ligation-dependent Probe Amplification
FDA Status
This test was developed and its analytical performance characteristics have been determined by Athena Diagnostics. It has not been cleared or approved by FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
Setup Schedule
Set up: As needed; Report Available: 14-28 days
Report Available
28 Days
Reference Range
See Laboratory Report
Clinical Significance
Detects mutations in the GCH1 and TH genes. Indications include: Childhood onset of dystonia with positive response to low dose levodopa. Childhood onset of lower limb dystonia, typically in the foot with possible hyperreflexia and striatal toe. Dramatic response to low doses of levodopa.
