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Test Catalog
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Autosomal Recessive Ataxia Evaluation |
#693 |
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| Type of Disorder: |
Movement Disorders |
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| Typical Presentation: |
Children and Adults: Ataxia, poor coordination of hand, speech and eye movements, uncoordinated and unsteady gait, dysarthria, muscle weakness, dystonia, spasticity in the lower limbs, areflexia, cardiomyopathy, diabetes mellitus |
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| Disease(s) tested for: |
Autosomal Recessive Ataxia |
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| Test Details |
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| Test Code: |
693 |
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| Profile includes: |
Aprataxin DNA Sequencing Test , Friedreich's Ataxia DNA Sequencing Analysis, MIRAS-Specific POLG1 DNA Test, SETX DNA Sequencing Test, SIL1 (Marinesco-Sjogren Syndrome) DNA Sequencing Test, TTPA (Ataxia with Vitamin E Deficiency) DNA Sequencing Test
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| Informed Consent Required: |
Yes |
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| Medicare ABN Required: |
No |
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| Technical Information |
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| Utility: |
Detection of mutations to APTX, SETX, SIL1, POLG1, TTPA, FXN |
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| Methodology: |
DNA sequencing, expansion testing, & PCR |
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| Reference Value: |
No sequence variants detected or expansions outside of the normal range |
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| Patents: |
7,824,860 |
| CPT Coding |
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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.
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| Stacked CPT Code(s): |
83891(1), 83894(1), 83898(66), 83904(65), 83909(65), 83912(1)
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| Shipping Considerations |
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| Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form. |
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| Preferred Specimen Requirements |
| Type: |
Whole blood |
| Minimum Volume: |
20 mL |
| Collection Tube: |
Lavender top (EDTA) |
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| Storage Conditions: |
Do not freeze, refrigerate |
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| Shipping Conditions: |
Room temperature, avoid freezing |
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| Test Turnaround: |
14-21 days |
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