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SCA17 (TBP) Repeat Expansion Test
Test Code92909
CPT Codes
81401<br /> *** RESTRICTED USE *** This code is available for Client #54840, 55738, 56176, 51618, 51921, 57748, 55851, 53814 and 54329 ONLY.
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 an EDTA (lavender-top) tube
Minimum Volume
6 mL
Instructions
Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form.
Transport Temperature
Room temperature
Specimen Stability
Room temperature: 10 days
Refrigerated: 10 days
Frozen: Unacceptable
Refrigerated: 10 days
Frozen: Unacceptable
Methodology
Repeat Expansion Detection • Polymerase Chain Reaction (PCR) • Fragment Size Analysis
Setup Schedule
Report available: 14-21 days
Clinical Significance
Detects CAG/CAA triplet repeat expansions in the SCA17
gene. The usual clinical characteristics of the
spinocerebellar ataxias are a slowly progressive
incoordination of gait that is often associated with poor
coordination of hands, speech, and eye movements.
gene. The usual clinical characteristics of the
spinocerebellar ataxias are a slowly progressive
incoordination of gait that is often associated with poor
coordination of hands, speech, and eye movements.
