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

Overview

Test order codeHelp: 2040

Test name

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CDKL5-Related Infantile Spasms and Atypical Rett Syndrome

Purpose of the test

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

Condition

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1 condition tested. Click Indication tab for more information.

Methodology

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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.

Genes

Clinical validity

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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.

Citations

Not provided

Clinical utility

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Not provided

Testing strategy

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

How to order

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Order URL Help: http://ambrygen.com/forms

Test services

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  • 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

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.