GTR Home > Tests > CDKL5-Related Infantile Spasms and Atypical Rett Syndrome


Test order codeHelp: 2040

Test name


CDKL5-Related Infantile Spasms and Atypical Rett Syndrome

Purpose of the test


This is a clinical test intended for Help: Diagnosis, Mutation Confirmation



1 condition tested. Click Indication tab for more information.


Molecular Genetics
CSequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis

Summary of what is tested

1 genes and variants. Click Methodology tab for more information.


Clinical validity


Mutations in the CDKL5 gene can cause mental retardation, seizures and infantile spasms, hypotonia, hand stereotypies in 85% of individuals, and autism in 75% of patients with ISSX. Approximately 17% of patients diagnosed with ISSX have a CDKL5 mutation.


Not provided

Clinical utility


Not provided

Testing strategy


Test can be run as individual gene sequence analysis, reflexively as part of panel, or specific site analysis.

How to order


Order URL Help:

Test services

  • Clinical Testing/Confirmation of Mutations Identified Previously, Order code: 2040

Clinical resources

Practice guidelines

  • ACMG, 2013
    Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.
  • ISCA, 2010
    Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.
  • ACMG, 2008
    Statement on guidance for genetic counseling in advanced paternal age
  • ACMG, 2008
    Clinical genetics evaluation in identifying the etiology of autism spectrum disorders
  • ACMG, 2005
    American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardation

Consumer resources

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