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GCH1 Deletion Analysis (DYT5A)
Test Code93972
CPT Codes
81479
Preferred Specimen
8 mL whole blood collected in an EDTA (lavender-top) tube
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
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
Reference Range
See Laboratory Report
Clinical Significance
Detects deletions in the GCH1 gene in patients with DOPA- responsive Dystonia. Patients exhibit a childhood onset of lower limb dystonia, typically in the foot with possible hyperreflexia and striatal toe. Patients have a dramatic response to low doses of levodopa.
Performing Laboratory
Athena Diagnostics, Inc.
200 Forest Street, 2nd Floor
Marlborough, MA 01752
