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Test Code Rett Panel Rett Panel

Clinical System Name

Rett Full DNA Panel

Description

Rett Syndrome is a neurodevelopmental disorder with a range of phenotypes including: Classic Rett syndrome, Atypical Rett syndrome, and mild learning disabilities. It is characterized by a rapid regression in language and motor skills, followed by long-term stability. During the phase of rapid regression, repetitive, stereotypic hand movements replace purposeful hand use.
 

This panel includes sequencing of three genes associated with Rett syndrome, MECP2, CDKL5, and FOXG1, and deletion/duplication analysis of the MECP2 gene.

Sample Requirements

Specimen: Whole blood, cord blood

Container(s): Lavender/EDTA, Yellow/ACD A or B

Preferred Vol: 3 mL

Minimum Vol: 1 mL

 

Note: Heparin samples (Green tops) are unacceptable.

  

Specimen: Cultured cells

Acceptable:  Fibroblasts

Container(s): T-25 flasks

Preferred Vol: 2 flasks

Processing Instructions

Reject due to: Heparin, extracted DNA

Spin: No

Aliquot: No

Temp: Refrigerate

Storage location: Molecular Genetics box in CPA refrigerator #2

 

Off-site collection: Refrigerate blood samples until ready to ship.  Transport all sample types at room temperature via overnight shipping.

Stability

Specimen Type Temperature Time
Cultured cells Room temp 3 days
Whole blood Room temp 3-5 days
Whole blood Refrigerated 7 days

 

Note: Whole blood samples > 7days may be submitted to be assessed by our lab for acceptability for testing.

Availability

STAT Performed TAT
Contact lab Monday - Friday 3-4 weeks

 

Performing Laboratory

Seattle Children's Laboratory

Department

Department:  Molecular Genetics Laboratory

Phone: 206-987-3872

 

Lab Client Services: 206-987-2617

 

Lab Genetic Counselor: LabGC@seattlechildrens.org

Reference Range

Interpretive report will be provided

Methodology

Method: Bi-directional sequencing of all exons and exon-intron boundaries of MECP2, CDKL5,  and FOXG1. Deletion/duplication of MECP2 is performed by MLPA.

 

Limitations: Mutations in the promoter region, large deletions, large duplications, or rare recombinant mutations may not be detected by sequencing.

CPT Codes

81302, 81304, 81406, 81404

Special Instructions

Links to: MECP2-Related Disorders GeneReviews

Requisition

Molecular Genetics

Clinical Utility

Rett Syndrome is a neurodevelopmental disorder with a range of phenotypes including: Classic Rett syndrome, Atypical Rett syndrome, and mild learning disabilities. It is characterized by a rapid regression in language and motor skills, followed by long-term stability. During the phase of rapid regression, repetitive, stereotypic hand movements replace purposeful hand use. It affects approximately 1/10,000 to 1/15,000 females and is the most common genetic cause of intellectual disability in females.