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Athena #654 Autosomal Recessive Hereditary Spastic Paraplegia Evaluation
Test Code654
CPT Codes
81406(1), 81407(1), 81479(1)
Includes
Paraplegin (SPG7) DNA Sequencing Test, Spatacsin (SPG11) DNA Sequencing Test, CYP7B1 (SPG5A) DNA Sequencing Test, Spastizin (ZYFVE26) DNA Sequencing Test (SPG15)
Preferred Specimen
whole Blood
Minimum Volume
10 mL
Instructions
Ship within 24 hours
Transport Container
lav(EDTA)
Transport Temperature
Room Temp
Specimen Stability
Refrigerated
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
freezing
Methodology
Polymerase Chain Reaction (PCR) and DNA Sequencing
Setup Schedule
M-F
Report Available
4-6 weeks
Reference Range
No mutations 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. 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.
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 SPG7, SPG11, SPG5A, and SPG15"
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.
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 SPG7, SPG11, SPG5A, and SPG15"
