Rett Syndrome Sequence Analysis

Test Code

15088

CPT Codes
81302

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.

Includes

If amniotic fluid or chorionic villi sampling (CVS) is received, then an additional charge will be added for cell culture work (CPT code(s): 88235) if not already ordered

Preferred Specimen

5 mL whole blood collected in an EDTA (lavender-top), EDTA (royal blue-top), ACD (yellow-top), sodium heparin (green-top) or sodium heparin (royal blue-top) tube

Minimum Volume

3 mL whole blood
10 mL amniotic fluid
10 mg chorionic villi

Other Acceptable Specimens

10 mL amniotic fluid collected in a sterile, leak-proof container • 10 mg chorionic villi collected in a sterile, leak-proof container • Cultured cells (75% confluent minimum) collected in each of two sterile T-25 flasks

Instructions

Do not hold specimen; forward to laboratory when specimen arrives. Contact performing laboratory for stability determination. For any other sample type call 866-GENE-INFO (1-866-436-3463).

Whole blood: Normal phlebotomy procedure. Specimen stability is crucial. Store and ship at room temperature immediately. Do not freeze.

For fetal testing:
1) Please call 1-866-GENE-INFO (1-866-436-3463) prior to submission.
2) Documentation of parental carrier status must be provided.
3) It is required that Maternal Cell Contamination Study, STR Analysis be ordered in conjunction with fetal testing. A separate tube of maternal blood (EDTA) is required for this test.

Amniotic fluid: Normal collection procedure. Specimen stability is crucial. Store and ship at room temperature immediately. Do not refrigerate or freeze; forward to laboratory when sample arrives.

Amniocyte or Chorionic Villus (CVS) culture: Two sterile T25 flasks, 75% confluent, filled with culture medium. Specimen stability is crucial. Store and ship at room temperature immediately. Do not refrigerate or freeze; forward to laboratory when cells arrive.

Dissected Chorionic Villus (CVS) biopsy: 10-20 mg dissected chorionic villi collected in a sterile tube, filled with sterile culture medium. Specimen stability is crucial. Store and ship at room temperature immediately. Do not refrigerate or freeze; forward to laboratory when sample arrives.

Transport Temperature

Room temperature

Specimen Stability

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

Fetal specimens
Room temperature: 48 hours
Refrigerated: Unacceptable
Frozen: Unacceptable

Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)

Do not reject. Forward to performing laboratory for evaluation of sample.

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

Set up: Mon; Report available: 11-15 days

Limitations

The sequencing test can only detect mutations in about 80% of patients with classic Rett syndrome. Therefore, a negative test result does not rule out the clinical diagnosis of Rett syndrome.

Reference Range

See Laboratory Report

Clinical Significance

Sequence analysis of the entire amino acid coding region (exons 1-4) and splice junction sites of the MECP2 gene will detect disease causing variants in approximately 80% Of individuals with classic Rett Syndrome. This test will establish a clinical diagnosis of Rett Syndrome in females. This test will also establish the etiology of severe neonatal encephalopathy in males.

Performing Laboratory

Quest Diagnostics Nichols Institute-San Juan Capistrano, CA

33608 Ortega Highway

San Juan Capistrano, CA 92675-2042

Last Updated: May 19, 2016

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.