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Test Catalog
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Complete Hereditary Spastic Paraplegia Evaluation |
#628 |
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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 |
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| Indications for Testing: |
Hereditary Spastic Paraplegia , Autosomal Dominant Hereditary Spastic Paraplegia |
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| Disease(s) tested for: |
Hereditary Spastic Paraplegia , Autosomal Dominant Hereditary Spastic Paraplegia |
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| Test Details |
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| Test Code: |
628 |
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| Profile includes: |
Atlastin (SPG3A) DNA Sequencing Test , KIAA0196 (SPG8) DNA Sequencing Test, NIPA1 (SPG6) DNA Sequencing Test , 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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| Medicare ABN Required: |
Yes |
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| Technical Information |
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| Utility: |
Detects mutations in the SPG4(spastin), SPG3A(atlastin), REEP1 (SPG31) and NIPA1(SPG6) genes |
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| Methodology: |
Polymerase Chain Reaction (PCR) and DNA Sequencing. Multiplex Ligation-dependent Probe Analysis for SPG4 deletion. |
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| Reference Value: |
No mutation detected
For SPG4 Deletion: All exons present |
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| CPT Code(s): |
83891(1), 83896(40), 83898(74), 83900(1), 83901(18), 83904(74), 83914(20), 83909(6), 83912(1)
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| Shipping Considerations |
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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: |
Regrigerate |
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| Shipping Conditions: |
Room temperature, avoid freezing, ship within 24 hours Monday - Thursday only |
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| Test Turnaround: |
4-6 weeks |
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