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Test Catalog
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Friedreich's Ataxia DNA Sequencing Analysis |
#348 |
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| Type of Disorder: |
Movement Disorders |
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| Typical Presentation: |
Children and Adults: Ataxia, dysarthria, muscle weakness, spasticity in the lower limbs, areflexia, cardiomyopathy, diabetes mellitus |
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| Indications for Testing: |
Clinical features consistent with those of Friedreich's Ataxia |
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| Disease(s) tested for: |
Friedreich's ataxia |
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| Test Details |
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| Test Code: |
348 |
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| Profiles that contain this test: |
Autosomal Recessive Ataxia Evaluation, Complete Ataxia Evaluation, Friedreich's Ataxia Profile
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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 sequence variants of FXN |
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| Methodology: |
DNA sequencing |
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| Reference Value: |
No sequence variants detected |
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| Patents: |
6,150,091 |
| 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), 83898(5), 83904(5), 83909(5), 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: |
10 mL |
| Collection Tube: |
Lavender top (EDTA) |
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| Storage Conditions: |
Do not freeze, refrigerate |
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| Shipping Conditions: |
Room tempature avoid freezing |
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| Test Turnaround: |
7-14 days |
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