#ExistInterpDataSet>
| Interpretive Data: |
#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.
*ExistInterpData>
|
*ExistInterpDataSet>
#ExistCPT>
| CPT Code(s): |
83891 Isolation; 83898 x26 Amplification; 83904 x26 Sequencing; 83909 Capillary electrophoresis; 83912 Interpretation and report - Additional CPT code modifiers may be required for procedures performed to test for oncologic or inherited disorders.
|
*ExistCPT>
#ExistCrossReferences>
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)
|
*ExistCrossReferences>