| Test code: | 6611 |
| Type of disorder: | Motor Neuron Disorders |
| Disease(s) tested for: | Hereditary Spastic Paraplegia |
| Genes Included: | ATL1, KIF5A, REEP1, SPAST, |
| Informed Consent Required: | This test requires physician attestation that patient consent has been received |
| Clinical Significance: | This test includes sequencing 4 genes including ATL1, SPAST, REEP1, KIF5A, and a SPAST deletion test. This test will detect 70-80% of genetic causes of autosomal dominant HSP. 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 |
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: | 81405(2), 81406(2), 81479(1) |
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. Patients, 0-3 years have higher WBC, yielding more DNA per mL of blood |
| Transport Temperature: | Room temperature |
| Set-up/Analytic Time: | 21-28 days |
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