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Test Catalog
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Complete Hereditary Spastic Paraplegia Evaluation |
#650 |
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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. SPG7 is often associated with cerebellar signs, optic atrophy, neuropathy while SPG11 is associated with cognitive decline, thin corpus collosum, upper extremity weakness, dysarthria and nystagmus. |
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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: |
650 |
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| Profile includes: |
Atlastin (SPG3A) DNA Sequencing Test , BSCL2 DNA Sequencing Test, KIAA0196 (SPG8) DNA Sequencing Test, NIPA1 (SPG6) DNA Sequencing Test , Paraplegin (SPG7) DNA Sequencing Test, REEP1 (SPG31) DNA Sequencing Test, Spastin (SPG4) Deletion Test, Spastin (SPG4) DNA Sequencing Test , Spatacsin (SPG11) 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: |
Detect mutations in the most common HSP genes: SPG3a, SPG4, SPG6, SPG7, SPG8, SPG11, SPG17, SPG31. HSP is highly variable even in the same family members for disease progression, age of onset, type of symptoms and disease severity. |
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| Methodology: |
Polymerase Chain Reaction (PCR) and DNA Sequencing. Multiplex Ligation-dependent Probe Analysis (MLPA) for SPG4 deletion |
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| Reference Value: |
No mutations detected. For SPG4 deletion: all exons present. |
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| CPT Code(s): |
83891(1), 83896(20), 83898(143), 83900(1), 83901(18), 83904(143), 83914(20), 83909(9), 83912(1) |
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| Patents: |
7,108,975, 6,924,126, 7,582,425 |
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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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| 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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