Athena Diagnostics - Testing that Makes a Difference
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Aprataxin DNA Sequencing Test #493
Type of Disorder: Movement Disorders
Typical Presentation: Ataxia, poor coordination of hand, speech and eye movements, uncoordinated and unsteady gait
Disease(s) tested for: Ataxia with oculomotor apraxia 1 (AOA1)
Test Details
Test Code: 493
Profiles that contain this test: Autosomal Recessive Ataxia Evaluation, Complete Ataxia Evaluation
Informed Consent Required: Yes
Medicare ABN Required: No
Special Notes: The Complete Ataxia Evaluation, #690 is recommended unless a family member's mutation has been confirmed by prior molecular tests.
Technical Information
Utility: Detects mutations in the aprataxin gene
Methodology: Polymerase Chain Reaction (PCR) and DNA Sequencing
Reference Value: No sequence alteration detected
Patents: 7,119,186, 7,824,860
CPT Coding
The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
Stacked CPT Code(s): 83891(1), 83898(7), 83904(7), 83909(7), 83912(1)
Shipping Considerations
Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form.
Preferred Specimen Requirements
Type: Whole blood
Minimum Volume: 15ml
Collection Tube: Lavender top (EDTA)
Storage Conditions: Refrigerate, avoid freezing
Shipping Conditions: Room temperature, avoid freezing. Ship within 24 hours, Monday - Thursday only.
Test Turnaround: 14-21 days
Canada US