Sign in →

Test Code CDKL5 KNOWN CDKL5 Known Mutation

Clinical System Name

CDKL5 (Rett) Known Mutation

Description

This test involves targeted analysis for variants previously identified through clinical testing of a family member or  research testing of the individual.  It can be used for carrier testing for at-risk relatives and prenatal testing for confirmed carriers. Variants must be known. For full gene sequencing please see CDKL5 Sequencing

 

Pathogenic variants in the CDKL5 gene are a cause of atypical Rett syndrome, a progressive neurologic developmental disorder with early-onset infantile spasm, profound global developmental arrest, hypsarrhythmia and severe intellectual disability. Some patients present with Angelman syndrome-like phenotype.

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 Counselors: LabGC@seattlechildrens.org

Reference Range

Interpretive report will be provided

Methodology

Method: PCR + Sequencing

 

Limitations: This test is for targeted known mutation analysis only.  Mutations must be known.

CPT Codes

81403 (updated 2/2/16 by jconta)

Special Instructions

Please provide copies of proband reports when requesting known mutation analysis for cases NOT performed by Seattle Children's Lab.

 

Links to: Cyclin-Dependent Kinase-Like 5 OMIM

Requisition

Molecular Genetics

Clinical Utility

Pathogenic variants in the CDKL5 gene are a cause of atypical Rett syndrome, a progressive neurologic developmental disorder with early-onset infantile spasm, profound global developmental arrest, hypsarrhythmia and severe mental retardation. Some patients present with Angelman syndrome-like phenotype.

Related Tests