#ExistInterpData>Background Information for CDKL5-Related Disorders (CDKL5) Deletion/Duplication:
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: Unknown.
Methodology: Multiplex ligation-dependent probe amplification (MLPA) to detect large CDKL5 coding region deletions/duplications.
Analytical Sensitivity and Specificity: 99 percent.
Limitations: Rare diagnostic errors can occur due to probe site mutations. Single base pair substitutions, small deletions/duplications, regulatory region mutations, and deep intronic mutations will not be detected. Large deletions/duplications of exon 3 will not be detected. The breakpoints of large deletions/duplications will not be determined.
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
||Atypical Rett (CDKL5) (CDKL5-Related Disorders (CDKL5) Deletion/Duplication)
, Epileptic Encehpalopathy, Early Infantile 2 (CDKL5-Related Disorders (CDKL5) Deletion/Duplication)
, Infantile Spasms/Atypical Rett (CDKL5-Related Disorders (CDKL5) Deletion/Duplication)
, Rett-Like Syndrome (CDKL5-Related Disorders (CDKL5) Deletion/Duplication)