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Athena #653 Autosomal Dominant Hereditary Spastic Paraplegia Evaluation
MessageConsider testing SPG3A for childhood onset HSP
Test Code
653
CPT Codes
81404(1), 81405(2), 81406(3), 81407(1), 81479(1)
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)
Preferred Specimen
whole Blood
Minimum Volume
20 mL
Instructions
Ship within 24 hours
Transport Container
lav(EDTA)
Transport Temperature
Room Temp
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
freezing
Methodology
Polymerase Chain Reaction (PCR) and DNA Sequencing. Multiplex Ligation-dependent Probe Analysis for SPG4. SPG31 includes deletion analysis and DNA sequencing
Setup Schedule
M-F
Report Available
4-6 weeks
Reference Range
No mutations or deletions detected
Clinical Significance
"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
Detect mutations in the most common HSP genes: SPG3a, SPG4, SPG6, SPG8, SPG10, SPG31,SPG17"
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
Detect mutations in the most common HSP genes: SPG3a, SPG4, SPG6, SPG8, SPG10, SPG31,SPG17"
