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15088: Rett Syndrome Sequence Analysis Print View
Rett Syndrome Sequence NGS     
Clinical Indication:      

PRIMARY
1 Whole Blood EDTA 5 (3) mL   Refrigerated - 14 Day(s)/Room Temperature - 14 Day(s)  
ALTERNATE
  Whole Blood ACD Sol A 5 (3) mL   Refrigerated - 14 Day(s)/Room Temperature - 14 Day(s)  
  Whole Blood ACD Sol B 5 (3) mL   Room Temperature - 14 Day(s)/Refrigerated - 14 Day(s)  
  WB NaHep Trace Metal   Room Temperature - 14 Day(s)/Refrigerated - 14 Day(s)  
  Chorionic Villus Specimen   Room Temperature - 48 Hour(s)  
  Amniotic Fluid   Room Temperature - 8 Day(s)/Refrigerated - 8 Day(s)  
  Whole Blood Heparin 5 (3) mL   Room Temperature - 14 Day(s)/Refrigerated - 14 Day(s)  

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.

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.
Setup Schedule
Monday

Reported (Analytical Time)
10 days

CPT Code
81302

The CPT codes provided 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 payer being billed.

Notes
Transport Temperature: Room temperature
Methodology: Next Generation Sequencing Specimen Requirements
Preferred:
5 mL (3 mL minimum) 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
Acceptable:
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 of separate T-25 Flask 5 mL (2 mL minimum) amniotic fluid collected in Flasks






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