CDKL5-Related Atypical Rett Syndrome (STK9), Known
| Order Code: | CDKL5KNM |
| Epic Lab Code: | LAB7290 |
| Order Form: | A-1a Miscellaneous Request or Epic Req |
Commercial Mail-out Laboratory
01250 PFP
356-3527
01250 PFP
356-3527
Specimen:
Whole Blood
Collection Medium:
 |
| Lavender top tube 4 mL (EDTA) |
Minimum:
3 mL whole blood; suggest drawing in a 4 mL
Lavender EDTA 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:
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.
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:
83898, 83904 (x2), 83909 (x2)