| Interpretive Data: |
Background Information for CDKL5-Related Disorders (CDKL5) Sequencing and 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: Approximately 17 percent in females with infantile spasms or seizures.
Methodology: Bidirectional sequencing of the CDKL5 coding region and intron-exon boundaries. Multiplex ligation-dependent probe amplification (MLPA) to detect large CDKL5 coding region deletions/duplications.
Analytical Sensitivity and Specificity of Sequencing and MLPA: 99 percent.
Limitations: Rare diagnostic errors can occur due to primer or probe site mutations. 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.
Refer to Statement C under Testing Information at http://www.aruplab.com.
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| CPT Code(s): |
Sequencing: 83891 Isolation; 83898 x26 Amplification; 83904 x26 Sequencing; 83909 Capillary electrophoresis; 83912 Interpretation and report. DelDup: 83896 x21 Nucleic Acid Probes; 83898 x21 Amplification; 83914 x21 Extension; 83909 Capillary Electrophoresis - Additional CPT code modifiers may be required for procedures performed to test for oncologic or inherited disorders.
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Cross References: |
Atypical Rett (CDKL5-Related Disorders (CDKL5) Sequencing and Deletion/Duplication)
, Epileptic Encephalopathy, Early Infantile 2 (CDKL5-Related Disorders (CDKL5) Sequencing and Deletion/Duplication)
, Infantile Spasms/Atypical Rett (CDKL5-Related Disorders (CDKL5) Sequencing and Deletion/Duplication)
, Rett-Like Syndrome (CDKL5-Related Disorders (CDKL5) Sequencing and Deletion/Duplication)
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