Huntington Disease Repeat Expansion Test

Test Code

92393

CPT Codes
81271<br /> Limited Access Code

Preferred Specimen

8 mL whole blood collected in two EDTA (lavender-top) tubes

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.

Note: Higher blood volumes ensure adequate DNA quantity, which varies with WBC, specimen condition, and need for confirmatory testing.

⁠⁠⁠⁠⁠⁠⁠Shipping Conditions: Room temperature, avoid freezing. Ship within 24 hours, Monday to Thursday only.

Transport Temperature

Room temperature

Specimen Stability

Room temperature: 10 days
Refrigerated: 10 days
Frozen: Unacceptable

Methodology
Repeat Expansion Detection by Polymerase Chain Reaction, Southern Blot

FDA Status
This test was developed and its analytical performance characteristics have been determined by Athena Diagnostics. It has not been cleared or approved by FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.

Setup Schedule

Set up: Varies; Report available: 14-28 days

Reference Range

Normal: ≤ 26 CAG
trinucleotide repeats

Clinical Significance

Chorea and idiopathic behavior change (may not be present in children)

Disease tested for: Huntington's disease

Use: Detects CAG triplet repeat expansion in the IT15 gene

The CPT Codes provided in this document 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 payor being billed. Any Profile/panel component may be ordered separately. Reflex tests are performed at an additional charge.