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.





See Compliance Statement C: www.aruplab.com/CS
Statement C: The performance characteristics of this test were validated by ARUP Laboratories. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test; however, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
 
Note
 
CPT Code(s)
81406
Components
Component Test Code*Component Chart NameLOINC
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