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Rett Syndrome Rearrangement (Deletion or Duplication)
Test Code16662
CPT Codes
81304<br />
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 in each of two separate tubes
Transport Temperature
Room temperature
Specimen Stability
Room temperature: 14 days
Refrigerated: 14 days
Frozen: Unacceptable
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 FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
Setup Schedule
Night Set up: 1 day a week; Report available: 16 days
Report Available
Reports in 16 days.
Limitations
Some individuals with mental retardation who do not have Rett syndrome may have other chromosomal or DNA abnormalities not detected by this test.
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.
Diagnose MECP2 duplication syndrome.