Rett Syndrome Rearrangement (Deletion/Duplication)

Test Code

16662

CPT Codes
<p>81304</p>

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

5 mL whole blood collected in each of two separate EDTA (lavender-top) tubes

Minimum Volume

3 mL

Transport Temperature

Room temperature

Specimen Stability

Room temperature: 14 days
Refrigerated: 14 days
Frozen: Unacceptable

Methodology
Next Generation Sequencing

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

Setup Schedule

Set up: Tues; Report available: 3-4 weeks

Limitations

Some individuals with mental retardation who do not have Rett syndrome may have other chromosomal or DNA abnormalities not detected by this test.

Reference Range

See Laboratory Report

Clinical Significance

Detect MECP2 gene deletions or duplications in patients who are suspected of having Rett syndrome despite negative results in the Rett Syndrome Sequence Analysis assay (test code 15088).

Diagnose MECP2 duplication syndrome.

Performing Laboratory

Quest Diagnostics Nichols Institute-San Juan Capistrano, CA

33608 Ortega Highway

San Juan Capistrano, CA 92675-2042

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.