CDKL5-related Atypical Rett Syndrome (STK9) Sequencing
| Disorder | Atypical Rett syndrome variant | |
| Gene Name | CDKL5/STK9 | |
| Clinical info | 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. | |
| Indications | Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutation within a family to allow for carrier testing and prenatal diagnosis. | |
| Associated Tests | CDKL5 can also be performed as part of our Rett/Angelman syndrome 2nd tier panel. | |
| Specimen Requirements | 5 to 10 ml of peripheral blood collected in an EDTA (lavender top) Vacutainer tube is preferred. The minimal blood needed for reliable DNA isolation is 3 ml | |
| Transport | The specimen should be kept at room temperature and delivered via overnight shipping. FedEx is preferred. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery | |
| Turnaround time | Sequencing: 6 weeks | |
| Prenatal testing | Prenatal diagnosis is available if the familial mutation is known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen. | |
| CPT Codes | Unknown mutation 83898 (x10), 83904 (x10), 83909 (x10) Known mutation 83898, 83904 (x2), 83909 (x2), 83912 |
|
| Cost | $2000 for sequencing $350 for known mutation |
|
| Contact | For further information contact This email address is being protected from spambots. You need JavaScript enabled to view it. , MS, Lab Counselor or This email address is being protected from spambots. You need JavaScript enabled to view it. , DNA Diagnostic Laboratory Coordinator at 1-800-473-9411 | |
Form Needed
Download molecular-lab-request-form.pdf
Have Questions Need Support?
Contact our Laboratory Representative for assistance.
Kellie King, MS, CGC