| A B C D E F G H I J K L M N O P Q R S T U V W X Y Z # |
TH DNA Sequencing Test (DYT5B)
Test Code94013
CPT Codes
81406
Physician Attestation of Informed Consent
This germline genetic test requires physician attestation that patient consent has been received if ordering medical facility is located in AK, DE, FL, GA, IA, MA, MN, NV, NJ, NY, OR, SD or VT or test is performed in MA.
Preferred Specimen
8 mL whole blood collected in two EDTA (lavender-top) tube
Pediatric (0-3 Years): 2 mL
Pediatric (0-3 Years): 2 mL
Minimum Volume
6 mL • Pediatric: 1 mL
Instructions
Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form.
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.
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.
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.
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
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
Report available: 14-28 days
Clinical Significance
Detects sequence variants in the TH 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.
