GTR Home > Tests > Autism/PTEN Hamartoma Tumor Syndrome - PTEN Sequence Analaysis


Test name


Autism/PTEN Hamartoma Tumor Syndrome - PTEN Sequence Analaysis

Purpose of the test


This is a clinical test intended for Help: Diagnosis



1 condition tested. Click Indication tab for more information.


Molecular Genetics
CSequence analysis of the entire coding region
Uni-directional Sanger sequencing
  • Applied Biosystems 3730 capillary sequencing instrument
  • Qiagen QIAcube

Summary of what is tested

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


Clinical validity


Not provided

Clinical utility


Not provided

How to order


Each specimen must be accompanied by a physician's test request. Informed consent is desirable. Proper billing information should also be provided on the test requisition form.
Order URL Help:

Test services

  • Clinical Testing/Confirmation of Mutations Identified Previously

Practice guidelines

  • ACG, 2015
    ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.
  • ACMG, 2015
    ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
  • NCCN, 2014
    Genetic/familial high-risk assessment: breast and ovarian, version 1.2014.
  • ACMG, 2013
    ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
  • ACS, 2007
    American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography.

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.