Rett Syndrome Sequence Analysis

Test Code

15088

CPT Codes
81302<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 an EDTA (lavender-top) tube

Minimum Volume

3 mL

Other Acceptable Specimens

Whole blood collected in ACD solution (yellow-top), EDTA (royal blue-top), sodium heparin (green-top), or sodium heparin (royal blue-top) • Chorionic villi, chorionic villus sampling, cultured amniocytes or cultured cells from amniotic fluid,cultured cells (confluent), cultured cells from CVS, cultured chorionic villi collected in two of separate T-25 flasks • Amniotic fluid collected in flasks

Instructions

Whole blood: Normal phlebotomy procedure. Specimen stability is crucial. Store and ship ambient immediately. Do not freeze.
Amniocyte culture: Sterile T-25 flask, filled with culture medium. Specimen stability is crucial. Store and ship immediately. Do not refrigerate or freeze.
For amniotic fluid: please contact laboratory.
For tissue samples: please contact laboratory.

Transport Temperature

Room temperature

Specimen Stability

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

Amniotic fluid
Room temperature: 8 days
Refrigerated: 8 days
Frozen: Unacceptable

Chorionic villi and cultured cells
Room temperature: 48 hours
Refrigerated: Unacceptable
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

Set up: Mon; Report Available: 10-14 days following set up

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.

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.

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.