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HSP, Comprehensive Evaluation - Athena #6630
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
HSP,COMPLETE(ATH#6630)
Alias/See Also
Hereditary Spastic Paraplegia
Includes
Genes Included: ALS2, AP5Z1, BSCL2, CYP7B1, FA2H, HSPD1, KIAA0196, KIF1A, KIF5A, L1CAM, NIPA1, PLP1, PNPLA6, REEP1, RTN2, SACS, SLC33A1, SPAST, SPG11, SPG20, SPG21, SPG3A, SPG7, ZFYVE26
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, Dosage Analysis
Report Available
28 - 42 days
Reference Range
Provided with patient report in CPRS.
Clinical Significance
Type of disorder: Motor Neuron Disorders
Typical Presentation: Stiffness, weakness, spasticity of lower limbs, cramping, sensory disturbances, bladder dysfunction. Complex HSP may include seizures, intellectual disability, muscle wasting, retinopathy, dystonia, hearing loss, cerebellar involvement.
Disease(s) tested for: Hereditary Spastic Paraplegia
Utility: This test offering is for HSP with an unclear or unavailable family history and no other laboratory results compatible with spastic paraplegia. This test includes 24 genes sequenced and SPAST deletion test, which is our complete offering. Smaller panels of its components are also available.
Typical Presentation: Stiffness, weakness, spasticity of lower limbs, cramping, sensory disturbances, bladder dysfunction. Complex HSP may include seizures, intellectual disability, muscle wasting, retinopathy, dystonia, hearing loss, cerebellar involvement.
Disease(s) tested for: Hereditary Spastic Paraplegia
Utility: This test offering is for HSP with an unclear or unavailable family history and no other laboratory results compatible with spastic paraplegia. This test includes 24 genes sequenced and SPAST deletion test, which is our complete offering. Smaller panels of its components are also available.
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
