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A B C D E F G H I J K L M N O P Q R S T U V W X Y Z # |
Rett Syndrome Sequence Analysis
Test Code15088
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 or royal blue-top), acid citrate dextrose ACD (yellow-top), or sodium heparin (green or royal blue-top) tube
Minimum Volume
3 mL whole blood • 2 mL amniotic fluid
Other Acceptable Specimens
Chorionic villi or Chorionic villus sampling or Cultured Amniocytes or Cultured cells from Amniotic fluid or Cultured cells (confluent) or Cultured cells from CVS or Cultured Chorionic Villi collected in two (x2) of separate T-25 Flask • 5 mL amniotic fluid collected in Flasks
Instructions
-Whole blood (preferred): 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.
-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 (preferred)
Room temperature: 14 days
Refrigerated: 14 days
Frozen: Unacceptable
Chorionic villi or 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 or 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 the 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.