|
Test Catalog
|
|
Autosomal Dominant HSP Evaluation |
#651 |
|
| Type of Disorder: |
Motor Neuron Disease |
|
| 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 |
|
| 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. |
|
| Disease(s) tested for: |
Hereditary Spastic Paraplegia |
|
| Test Details |
|
| Test Code: |
651 |
|
| Profile includes: |
Atlastin (SPG3A) DNA Sequencing Test , BSCL2 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
|
|
| Informed Consent Required: |
Yes |
|
| Medicare ABN Required: |
Yes |
|
| Special Notes: |
Consider testing SPG3A for childhood onset HSP. |
|
| Technical Information |
|
| Utility: |
Detect mutations in the most common HSP genes: SPG3a, SPG4, SPG6, SPG8, SPG31,SPG17 |
|
| Methodology: |
Polymerase Chain Reaction (PCR) and DNA Sequencing. Multiplex Ligation-dependent Probe Analysis for SPG4 deletion |
|
| Reference Value: |
No mutations detected. For SPG4 deletion: all exons present. |
|
| CPT Code(s): |
83891(1), 83896(20), 83898(85), 83900(1), 83901(18), 83904(85), 83914(20), 83909(7), 83912(1) |
|
| Patents: |
7,108,975, 6,924,126, 7,582,425 |
|
| Shipping Considerations |
|
| Preferred Specimen Requirements |
| Type: |
Whole blood |
| Minimum Volume: |
20 mL |
| Collection Tube: |
Lavender top (EDTA) |
|
| Shipping Conditions: |
Room temperature, avoid freezing, ship within 24 hours Monday - Friday |
|
| Test Turnaround: |
4-6 weeks |
|
|
|
