GeneDx :: Tests :: Rett syndrome, Atypical Rett syndrome, Autism/Autism Spectrum Disorder. Atypical Rett syndrome, X-linked infantile spasm syndrome-2 (Infantile spasms, Autism, Mental Retardation-West syndrome)

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Rett syndrome, Atypical Rett syndrome, Autism/Autism Spectrum Disorder

MECP2

Atypical Rett syndrome, X-linked infantile spasm syndrome-2 (Infantile spasms, Autism, Mental Retardation-West syndrome)

CDKL5

Rett syndrome is a progressive neuro-developmental disorder that predominantly affects females. It is diagnosed based on a defined set of clinical criteria, including apparently normal development in the first 6-18 months, followed by an arrest in development and subsequent regression in language and motor skills. In addition, several forms of “atypical” Rett syndrome exist, which can be milder or more severe than typical Rett syndrome. The majority of patients with Rett syndrome and 20-40% of patients with atypical Rett syndrome have a mutation in the MECP2 gene, and a smaller percentage has an abnormal number of copies of this gene (gene deletion or duplication). Among all females with non-syndromic autism or autism spectrum disorders (ASD), a MECP2 mutation has been reported in 3-13% of patients.

CDKL5 mutations have been associated with X-linked mental retardation and a broad spectrum of neurological symptoms that show broad overlap with atypical Rett syndrome and Angelman syndrome. The majority of patients are females. Most patients have a severe phenotype with early-onset encephalopathy and infantile spasms, global developmental delay and mental retardation, although cases with much milder symptoms have been reported.

MECP2 and CDKL5 mutations are inherited as X-linked dominant trait and are usually sporadic.

Using genomic DNA obtained from a venous blood sample (1-5 mL in EDTA), GeneDx will perform bi-directional sequence analysis of the 4 exons of the MECP2 gene or the 21 exons of the CDKL5 gene. This analysis is expected to identify most types of mutation, if one exists, with the exception of genomic deletions, duplications or rearrangements. Multiplex Ligation-dependent Probe Amplification (MLPA) analysis with probes in each exon of MECP2 is available to evaluate for a partial or whole deletion/duplication of one copy of the MECP2 gene in affected females and also for genomic gains in affected males.

Information Sheet, including prices and CPT codes (MECP2)
Information Sheet, including prices and CPT codes (CDKL5)
Consent Document (MECP2)
Consent Document (CDKL5)
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options

Rett Syndrome, Pervasive Developmental Disorder Not Otherwise Specified, Autistic Disorde, Infantile Encephalitis, Infantile Seizures, early-onset epilepsy, profound developmental delay, Angelman syndrome, mental retardation, male, female, microcephaly, Atypical Rett syndrome, West syndrome, X-linked Infantile spasm syndrome 2, Autism, X-linked Mental Retardation; neurological symptoms; encephalopathy, infantile spasms, epileptic seizure disorder, developmental delay, intellectual impairment, hypotonia, scoliosis, microcephaly, delayed or absent speech development, stereotypic hand movements, repetitive behavior, loss of speech, loss of purposeful hand use, ataxia, seizures, CDKL5, cyclin dependent kinase-like 5, STK9, serine threonine kinase 9, MECP2, methyl CpG binding protein 2 transcriptional repressor