GTR Home > Tests > AKT1 Gene Sequencing

Overview

Test order codeHelp: 003176

Test name

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AKT1 Gene Sequencing

Purpose of the test

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

Condition

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5 conditions tested. Click Indication tab for more information.

Methodology

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Molecular Genetics
SMutation scanning of the entire coding region
Bi-directional Sanger Sequence Analysis
  • ABI3700XL

Summary of what is tested

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

Genes

Clinical validity

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>95% of mutations are found through entire coding sequencing

Citations

Not provided

Clinical utility

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Establish or confirm diagnosis

Testing strategy

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PCR amplification of the coding sequence and bidirectional sequencing.

How to order

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The requirements for each test are listed at www.genetix.com.co. For further questions, please contact us at genetix@genetix.com.co
Order URL Help: http://www.genetix.com.co/

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Custom Sequence Analysis
  • Genetic counseling
  • Result interpretation
  • Custom Prenatal Testing
  • Custom mutation-specific/Carrier testing

Suggested reading

  • Lindhurst et al., 2011
    A mosaic activating mutation in AKT1 associated with the Proteus syndrome.
  • Turner et al., 2004
    Reassessment of the Proteus syndrome literature: application of diagnostic criteria to published cases.
  • Biesecker et al., 1998
    Proteus syndrome: diagnostic criteria, differential diagnosis, and patient evaluation.

Clinical 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.