CDKL5 Gene Analysis Full Gene Sequence
Label Mnemonic: CDKL5
Epic Lab Code: LAB7289
Downtime Form: A-1a Miscellaneous Request
Commercial Mail-out Laboratory
5231 RCP
356-8593
Specimen(s):
Whole Blood
Collection Medium:
Pink top tube 6 mL (K2-EDTA)
Minimum:
3 mL whole blood; suggest drawing in a 6 mL pink top tube
Testing Schedule:
Collect Monday - Thursday, no weekends or holidays.
Turn Around Time:
Testing will be completed within 6 weeks of sample receipt in reference laboratory
Reference Range:
Technical staff members assess the quality and interpretation of all test results. Following an independent analysis of results by the Director of the Laboratory, a hard copy report will be issued.
Comments:
This mailout test requires pathologist approval for orders during inpatient encounters. Mailouts staff will not process order without approval. The pathologist covering mailouts approval can be reached at pager #5379. If approval is given, the name of the pathologist can be selected in the drop-down menu to the right of the approval warning in Epic when ordering the test.

Please print, complete and submit the Molecular Diagnostic Request Form from Greenwood Genetic Center, with the specimen and the A-1a Miscellaneous Request.

Cyclin-dependent kinase-like 5 (CDKL5 or STK9) has been associated with an atypical variant of Rett syndrome, with severe early-onset seizures or infantile spasms, loss of communication and motor skills, and severe mental retardation. The CDKL5/STK9 gene has been localized to Xp22, and mutations in this gene are predominantly seen in females.
CPT Code:
81406