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Rett Syndrome Sequence Analysis
MessageWHOLE BLOOD - DO NOT CENTRIFUGE
Test Code
15088
Alias/See Also
LAB00296
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.
Preferred Specimen
5 mL whole blood collected in an EDTA (lavender-top or royal blue-top), ACD (yellow-top), or sodium heparin (green-top or royal blue-top) tube
Minimum Volume
3 mL whole blood • 2 mL amniotic fluid
Other Acceptable Specimens
Chorionic villi, chorionic villus sampling, cultured amniocytes, cultured cells from amniotic fluid, cultured cells (confluent), cultured cells from CVS, or cultured chorionic villi collected in: Two separate T25 flasks • 5 mL amniotic fluid collected in Flasks
Instructions
Whole blood (preferred): Normal phlebotomy procedure. Specimen stability is crucial. Store and ship room temperature immediately. Do not freeze.
Amniocyte culture (acceptable): Sterile T25 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.
Amniocyte culture (acceptable): Sterile T25 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 Container
EDTA (lavender-top)
Transport Temperature
Room temperature
Specimen Stability
Whole blood
Room temperature: 14 days
Refrigerated: 14 days
Frozen: Unacceptable
Chorionic villi and cultured cells
Room temperature: 48 hours
Refrigerated: Unacceptable
Frozen: Unacceptable
Amniotic fluid
Room temperature: 8 days
Refrigerated: 8 days
Frozen: Unacceptable
Room temperature: 14 days
Refrigerated: 14 days
Frozen: Unacceptable
Chorionic villi and cultured cells
Room temperature: 48 hours
Refrigerated: Unacceptable
Frozen: Unacceptable
Amniotic fluid
Room temperature: 8 days
Refrigerated: 8 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
Mon
Report Available
10-14 days after 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.
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 |