HSP, Comprehensive Evaluation

Test Code
6630

Test Details


Test code: 6630
Type of disorder: Motor Neuron Disorders
Disease(s) tested for: Hereditary Spastic Paraplegia
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
Informed Consent Required: This test requires physician attestation that patient consent has been received

Technical Information


Clinical Significance: 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.
Methodology: Next Generation Sequencing, Dosage Analysis
Reference Range: Accompanies report

CPT Coding


The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

CPT: 81448(1)

Specimen Requirements


Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form.

Specimen Type: Whole blood
Specimen Stability: Room temperature: 10 days, Refrigerated: 10 days, Frozen: Unacceptable
Specimen Requirements: 8 mL (6 mL minimum) whole blood collected in two (lavender-top) EDTA tubes.
Instructions: Higher blood volumes ensure adequate DNA quantity, which varies with WBC, specimen condition, and need for confirmatory testing.

Shipping Considerations


Transport Temperature: Room temperature
Set-up/Analytic Time: 21-28 days

Additional Resources

Letters of Medical Necessity

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