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 intellectual disability. 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 is also as part of the Rett/Angelman syndrome 2nd tier panel, the Syndromic Autism Panel, and the XLID 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: 81406

Known mutation: 81403

Deletion/Duplication Analysis: 81229
Cost $2000 for sequencing

$350 for known mutation

$700 for deletion/duplication analysis

Prenatal diagnosis for a known mutation is $1000. Please contact the laboratory for more information.

Contact For further information contact This email address is being protected from spambots. You need JavaScript enabled to view it. , MS, Lab Counselor at 1-800-473-9411.

Molecular Diagnostic Lab

The Molecular Diagnostic Lab offers DNA analysis for many genetic disorders via gene sequencing, targeted mutation analysis, MLPA deletion/duplication testing, trinucleotide repeat analysis and next generation sequencing panels.

Find out more