#ExistInterpData>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.
||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)