Comprehensive Spinocerebellar Ataxia Repeat Expansion Panel

CPT: 81177; 81178; 81179; 81180; 81181; 81182; 81183; 81184; 81343; 81344; 81479

Expected Turnaround Time

24 - 28 days


Specimen Requirements


Specimen

Whole blood


Volume

4 mL


Minimum Volume

1 mL


Container

Lavender-top (EDTA) tube


Test Details


Limitations

Maximum reportable sizing: ATN1 - 110 repeats, ATXN1 - 150 repeats, ATXN10 - 90 repeats, ATXN2 - 150 repeats, ATXN3 - 120 repeats, ATXN7 - 125 repeats, ATXN8OS/ATXN8 - 150 repeats, CACNA1A - 145 repeats, NOP56 - 65 repeats, PPP2R2B - 150 repeats, TBP - 120 repeats. SCA1 repeat expansion testing is unable to determine if an allele greater than 40 repeats contains CAT interruptions.


Methodology

See individual test components.


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