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Test Code MECP2 SEQ MECP2 Sequencing

Clinical System Name

MECP2 Sequencing

 

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 test is appropriate for diagnostic confirmation in symptomatic individuals who have a presumptive diagnosis of Rett Syndrome.

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: Extracted DNA

Minimum: 10µg

Note: DNA concentration minimum 50 µg/mL; 260/280 ratio 1.70-2.00

  

Specimen: Cultured cells

Acceptable:  Fibroblasts

Container(s): T-25 flasks

Preferred Vol: 2 flasks

Processing Instructions

Reject due to: Heparin

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, extracted DNA Room temp 3-5 days
Whole blood, extracted DNA Refrigerated 7 days
Extracted DNA Frozen ok

 

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 2-3 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

 

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

CPT Codes

81302 (code is correct for sequencing only and sequencing and del/dup if ordered together)

 

Contact LabGC@seattlechildrens.org if you have questions.

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.