Orders for this test for patients residing in New York state cannot be accepted at this time.
| Test code: | 116 |
| Type of disorder: | Movement Disorders |
| Disease(s) tested for: | Huntington's Disease |
| Genes Included: |
IT15, |
| Profiles that contain this test: | Chorea Differential Evaluation |
| Informed Consent Required: | This test requires confirmation of informed patient consent. Test code 1315, Confirmed Patient Consent for Genetic Testing, should be ordered in conjunction with this test. |
| Clinical Significance: | Detects CAG triplet repeat expansion in the IT15 gene
Typical Presentation: Chorea and idiopathic behavior change (may not be present in children) |
| Methodology: |
Repeat Expansion Detection by PCR, Long Read Sequencing
|
| Reference Range: | Normal: >5 and ≤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: |
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. |
| Transport Temperature: | Room temperature |
| Set-up/Analytic Time: | 14-28 days |
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