ARUP's Laboratory Test Directory

CDKL5-Related Disorders (CDKL5) Sequencing : 2004931
[ image for: Patient History for Rett Syndrome (MECP2) or CDKL5-Related Disorders (CDKL5) Testing]
Patient History for Rett Syndrome (MECP2) or CDKL5-Related Disorders (CDKL5) Testing
  


Mnemonic: CDKL5 FGS

Ordering Recommendation: Order to confirm the clinical diagnosis of a CDKL5 mutation-related disorder (eg, infantile spasm syndrome or MECP2-negative atypical Rett syndrome).
Methodology: Polymerase Chain Reaction/Sequencing
Performed: Varies
Reported: Within 28 days
Specimen Required: 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.

Stability (collection to initiation of testing): Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
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 the CDKL5 coding region and intron-exon boundaries.
Analytical Sensitivity and Specificity: 99 percent.
Limitations: Rare diagnostic errors can occur due to primer site mutations. 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.

Refer to Statement C under Testing Information at http://www.aruplab.com.
CPT Code(s): 81406
Cross References: Atypical Rett (CDKL5-Related Disorders (CDKL5) Sequencing) , Epileptic Encehpalopathy, Early Infantile 2 (CDKL5-Related Disorders (CDKL5) Sequencing) , Infantile Spasms/Atypical Rett (CDKL5-Related Disorders (CDKL5) Sequencing) , Rett-like Syndrome (CDKL5-Related Disorders (CDKL5) Sequencing)