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SPG7 (Paraplegin) DNA Sequencing Test - Athena #632
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
PARAPLEGIN(ATH#632)
Includes
Genes Included: SPG7
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. SPG7 is associated with both pure and complicated forms of HSP. Gene mutations are associated with adult onset, insidiously severe and progressive lower limb weakness and spasticity; variable age of onset, cerebellar signs, optic atrophy, and neuropathy.
Indications for testing: To confirm a specific diagnosis or prognosis of known paraplegin (SPG7) - related HSP.
Disease(s) tested for: Hereditary Spastic Paraplegia
Utility: Detect mutations in Paraplegin (SPG7) providing ability to confirm a specific diagnosis.
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 associated with both pure and complicated forms of HSP. Gene mutations are associated with adult onset, insidiously severe and progressive lower limb weakness and spasticity; variable age of onset, cerebellar signs, optic atrophy, and neuropathy.
Indications for testing: To confirm a specific diagnosis or prognosis of known paraplegin (SPG7) - related HSP.
Disease(s) tested for: Hereditary Spastic Paraplegia
Utility: Detect mutations in Paraplegin (SPG7) providing ability to confirm a specific diagnosis.
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
