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SPG11 (Spatacsin) DNA Sequencing Test - Athena #633
MessageThis test is currently only available in BHS CPRS. If you are a Bedford provider and wish to see this test offered in Bedford CPRS- please contact the Bedford Laboratory.
Test Code
SPATACSIN(ATH#633)
Alias/See Also
Hereditary Spastics Paraplegia, HSP
Includes
Genes Included: SPG11
Preferred Specimen
Whole blood - Lavender EDTA - 3 tubes
Minimum Volume
Preferred: 8 mL
Minimum: 6 mL
Minimum: 6 mL
Transport Temperature
Room temperature. Avoid freezing.
Specimen Stability
Room temperature: 10 days
Refrigerated: 10 days
Frozen: Unacceptable
Refrigerated: 10 days
Frozen: Unacceptable
Methodology
Next Generation Sequencing
Report Available
28 - 42 days
Reference Range
Provided with patient report in CPRS
Clinical Significance
Type of disorder: Motor Neuron Disorders
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. 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
Utility: Detect mutations in SPG11. SPG11 is known to be the most common ARHSP gene and mutations have been found worldwide.
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. 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
Utility: Detect mutations in SPG11. SPG11 is known to be the most common ARHSP gene and mutations have been found worldwide.
Performing Laboratory
Athena Diagnostics, Inc.
200 Forest Street, 2nd Floor
Marlborough, MA 01752
Additional Information
Link to Athena Diagnostics test catalog
Last Updated: December 18, 2015
