Rett Syndrome (MECP2) Duplication/Deletion Analysis

Test Code

901098

CPT Codes
81304<br>Restricted Client Code

Preferred Specimen

10 mL whole blood collected in EDTA (lavender-top) tube

Minimum Volume

6 mL

Instructions

Informed Consent Required.

Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form.

Shipping Conditions: Room temperature, avoid freezing.

Transport Temperature

Room temperature

Specimen Stability

Room temperature: 72 hours
Refrigerated: 72 hours
Frozen: Unacceptable

Methodology
Multiplex-Ligation Probe Amplification (MLPA)

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 the 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

Clinical Significance

Use: Detects deletions in the MECP2 gene. Note: Also detects MECP2 duplications in males.

Indication for Testing: Female with classic Rett Syndrome or ASD.
Disease(s) tested for: Rhett Syndrome.

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.