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Test Catalog
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Autosomal Dominant Hereditary Spastic Paraplegia Evaluation |
#653 |
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| Type of Disorder: |
Motor Neuron Disease |
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| Typical Presentation: |
Insidiously progressive spasticity and weakness of the legs, urinary urgency and high arched feet are often present; clinical variability between family members with the same mutation may exist |
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| Indications for Testing: |
To confirm a specific diagnosis or prognosis of known or suspected HSP; testing should be considered for those with unexplained spastic gait, with or without neurologic impairment. |
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| Disease(s) tested for: |
Hereditary Spastic Paraplegia |
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| Test Details |
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| Test Code: |
653 |
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| Profile includes: |
Atlastin (SPG3A) DNA Sequencing Test , BSCL2 DNA Sequencing Test, KIAA0196 (SPG8) DNA Sequencing Test, KIF5A (SPG10) DNA Sequencing Test, NIPA1 (SPG6) DNA Sequencing Test , REEP1 (SPG31) Deletion Analysis, REEP1 (SPG31) DNA Sequencing Test, Spastin (SPG4) Deletion Test, Spastin (SPG4) DNA Sequencing Test
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| Informed Consent Required: |
Yes |
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| Special Notes: |
Consider testing SPG3A for childhood onset HSP. |
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| Technical Information |
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| Utility: |
Detect mutations in the most common HSP genes: SPG3a, SPG4, SPG6, SPG8, SPG10, SPG31,SPG17 |
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| Methodology: |
Polymerase Chain Reaction (PCR) and DNA Sequencing. Multiplex Ligation-dependent Probe Analysis for SPG4. SPG31 includes deletion analysis and DNA sequencing |
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| Reference Value: |
No mutations or deletions detected |
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| Patents: |
6,924,126, 7,108,975, 7,582,425, 7,811,762 |
| 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(111), 83900(2), 83901(39), 83904(111), 83909(113), 83912(1), 83914(43) |
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| CPT 2013: |
81404(1), 81405(2), 81406(3), 81407(1), 81479(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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| Shipping Conditions: |
Room temperature, avoid freezing, ship within 24 hours Monday - Friday |
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| Test Turnaround: |
4-6 weeks |
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