Acceptable initial test to confirm the clinical diagnosis of a CDKL5-related disorder in individuals with infantile seizures, X-linked infantile spasm syndrome, MECP2-negative atypical Rett syndrome, autism, or intellectual disability with seizure disorder.
Polymerase Chain Reaction/Sequencing
Lavender (K2EDTA), Pink (K2EDTA), or Yellow (ACD Solution A or B).
Transport 3 mL whole blood. (Min: 1 mL)
Ambient: 1 Week; Refrigerated: 1 Month; Frozen: 6 Months
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: Rare; more frequent in females than males.
Inheritance: X-linked dominant; reported cases are de novo.
Penetrance: 100 percent.
Cause: Pathogenic variants in CDKL5 gene.
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: Diagnostic errors can occur due to rare sequence variations. Regulatory region variants, deep intronic variants, and large deletions/duplications will not be detected.
Compliance Statement C: For human genetic inheritable conditions and mutations. This test was developed and its performance characteristics determined by ARUP Laboratories. The U. S. Food and Drug Administration has not approved or cleared this test; however, FDA clearance or approval is not currently required for clinical use. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
|Component Test Code*||Component Chart Name||LOINC|
|2004932||CDKL5-Related Disorders Seq Specimen||31208-2|
|2004933||CDKL5-Related Disorders Seq Interp||48978-1|
- Atypical Rett
- Epileptic Encehpalopathy, Early Infantile 2
- Infantile Spasms/Atypical Rett
- Rett-like Syndrome