CDKL5 Sequencing

Mutations in CDKL5 (aka STK9) have been termed atypical Rett syndrome, X-linked infantile spasm syndrome 2, and autism/mental retardation. Many individuals with a CDKL5 mutation have early onset encephalopathy and infantile spasms/seizure disorder as well as global developmental delay and intellectual disability. Other features may include hypotonia, scoliosis, microcephaly, lack of speech, stereotypic hand movements, and repetitive behaviors. In rare cases the only manifestations of the condition are mild mental retardation and autism spectrum disorder. This laboratory performs Sanger sequencing of the CDKL5 gene.

Forms & Docs

Ordering

Place an order

Test Code
S0231

Turn Around Time
3-5 weeks

Billing

CPT Code
81406×1

Ordering Guidance

To be ordered if methylation and deletion analysis for Angelman syndrome was normal and/or if MECP2 sequencing and deletion/duplication for Rett syndrome was normal.

If there are questions regarding this test, please contact Client Services at 617-553-5880 or clientservices@claritasgenomics.com

Details

Genes Covered
CDKL5

Methods
Sanger