Orders for this test for patients residing in New York state cannot be accepted at this time.
| Clinical Significance: | Detects CAG triplet repeat expansion in the ITI5 gene and CAG triplet repeat expansions in the DRPLA gene
Typical Presentation: Chorea, ataxia or progressive myoclonus epilepsy and idiopathic behavior change (may not be present in children) |
| Methodology: |
Repeat Expansion Detection by PCR, Long Read Sequencing
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| Reference Range: | DRPLA normal < 35 CAG trinucleotide repeats; Huntington's normal 5 - 26 CAG trinucleotide repeats |
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.
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: |
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| 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: | 14-21 days |
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