Rett/Angelman Syndrome 2nd Tier Panel

Lab studies request form | CPT Codes/Price List (PDF)

The Greenwood Genetic Center is offering a second-tier panel for patients with features consistent with Rett and/or Angelman syndromes, yet with normal MECP2 analysis and chromosome 15 methylation. Rett and Angelman syndromes, particularly those cases with non-classical findings, can have overlapping phenotypes, thus choosing the appropriate second tier of testing may be challenging.

While each of the genes included in this panel can be requested separately through our Molecular Diagnostic Laboratory, ordering as a panel can provide valuable time and financial savings for your patients.

Sequence analysis of the following five genes is available through this panel. Click on each gene for more detailed information.

UBE3A – 15q11-q13 – Implicated in approximately 11% of clinically diagnosed Angelman syndrome patients
CDKL5 (STK9) - Xp22 - Rett syndrome variant with severe early-onset seizures, MR, loss of motor and communication skills
SLC9A6 – Xq26.3 – Christianson syndrome/ X-linked Angelman syndrome phenotype
FOXG1 – 14q12 – Congenital variant of Rett syndrome
TCF4 - 18q21.1 - Pitt-Hopkins syndrome

Specimen requirements: 5 to 10 ml of peripheral blood collected in an EDTA (lavender top) Vacutainer tube is preferred. The minimal blood needed for reliable DNA isolation is 3 ml. If necessary, ACD solution A Vacutainer tubes (yellow top) may be submitted. Please contact the laboratory for more information.

Transport: Please contact the Molecular Diagnostic Lab Coordinator (1-800-473-9411) for shipping information. The specimen should be kept at room temperature and delivered via overnight shipping. FedEx is preferred. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.

Analysis Standards: Analysis will be complete within 6 weeks of sample receipt. The laboratory director and technical staff members independently assess the quality and interpretation of the test. The Greenwood Genetic Center Molecular Diagnostic Laboratory is CLIA certified and actively participates in CAP proficiency surveys.

Reporting of Test Results: Test results with interpretation will be mailed and/or faxed following completion of the test. Verbal reports will be telephoned to the person(s) requesting the test when an abnormal test result occurs. Consultation with the laboratory director and explanations of testing protocols are available upon request.

CPT Codes: 83890, 83898 (x22), 83904 (x22), 83909 (x22), 83912