CDKL5-Related Disorders (CDKL5) Sequencing
2004931
Ordering Recommendation
Order to confirm the clinical diagnosis of a CDKL5 mutation-related disorder (eg, infantile spasm syndrome or MECP2-negative atypical Rett syndrome).
Mnemonic
CDKL5 FGS
Methodology
Polymerase Chain Reaction/Sequencing
Performed
Varies
Reported
Within 28 days  
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
Specimen Required
Patient Preparation
  
Collect
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).  
Specimen Preparation
Transport 3 mL whole blood. (Min: 1 mL)  
Storage/Transport Temperature
Refrigerated.  
Unacceptable Conditions
  
Remarks
  
Stability
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable  
Reference Interval
   
Interpretive Data
Background Information for CDKL5-Related Disorders (CDKL5) Sequencing:
Characteristics:
Vary widely but may include early onset intractable seizures, severe developmental delay, with females often exhibiting features of Rett syndrome.
Incidence
: Unknown; more frequent in females than males.
Inheritance:
X-linked dominant; reported cases are de novo.
Penetrance:
100 percent.
Cause:
Pathogenic CDKL5 gene mutations.
Clinical Sensitivity:
Approximately 17 percent in females with infantile spasms/seizures.
Methodology:
Bidirectional sequencing of theCDKL5 coding region and intron-exon boundaries.
Analytical Sensitivity and Specificity
: 99 percent.
Limitations
: Diagnostic errors can occur due to rare sequence variations. Regulatory region mutations, deep intronic mutations, and large deletions/duplications will not be detected.



Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.

See Compliance Statement C: www.aruplab.com/CS  
Note
 
CPT Code(s)
81406
Components
Component Test Code*Component Chart Name
2004932CDKL5-Related Disorders Seq Specimen
2004933CDKL5-Related Disorders Seq Interp
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
Aliases
  • Atypical Rett
  • Epileptic Encehpalopathy, Early Infantile 2
  • Infantile Spasms/Atypical Rett
  • Rett-like Syndrome