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Nonprevalent Autosomal Recessive Hereditary Spastic Paraplegia Advanced Sequencing Evaluation
Test Code93075
CPT Codes
81479<br /> This test is not available for New York patient testing<br /> Limited Access Code
Physician Attestation of Informed Consent
This germline genetic test requires physician attestation that patient consent has been received if ordering medical facility is located in AK, DE, FL, GA, IA, MA, MN, NV, NJ, NY, OR, SD or VT or test is performed in MA.
Preferred Specimen
8 mL whole blood collected in EDTA (lavender-top) tubes, or
Pediatric 0-3 years: 2 mL whole blood
Pediatric 0-3 years: 2 mL whole blood
Minimum Volume
6 mL • 1 mL pediatric whole blood
Transport Temperature
Room temperature
Specimen Stability
Room temperature: 10 days
Refrigerated: 10 days
Frozen: Unacceptable
Refrigerated: 10 days
Frozen: Unacceptable
Methodology
Next Generation Sequencing
Setup Schedule
Set up: Varies; Report available: 28-42 days
Reference Range
See Laboratory Report
Clinical Significance
This test includes sequencing 9 genes including CYP7B1, ALS2, AP5Z1, FA2H, KIF1A, PNPLA6, SACS, SPG20, and SPG21. This test will detect nonprevalent causes of HSP.
