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GTR Home > Tests > PCDH15 Deletion/Duplication Analysis

Overview

Test order codeHelp: 2373

Test name

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PCDH15 Deletion/Duplication Analysis

Purpose of the test

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This is a clinical test intended for Help: Diagnosis, Mutation Confirmation, Pre-symptomatic, Risk Assessment, Screening

Condition

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Click Indication tab for more information.

How to order

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For specimen requirements and shipping conditions, please check the test code specific information page. To view the test code specific information page, simply type the test code into the MGL search box found on our home page. Label all specimen tubes with full name and date of birth of the patient. Provide billing information. If we are billing patient insurance, provide a copy of the front and back of the insurance card. For additional information, contact the laboratories at 1-800-411-GENE (4363) or genetictest@bcm.edu.
Order URL Help: https://www.bcm.edu/geneticlabs/index.cfm?PMID=15828

Methodology

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Molecular Genetics
DDeletion/duplication analysis
Comparative Genomic Hybridization

Summary of what is tested

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Clinical utility

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Not provided

Clinical validity

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Not provided

Practice guidelines

  • ACMG ACT, 2011
    American College of Medical Genetics ACT Sheet, Carrier Screening ACT Sheet Ashkenazi Jewish Genetic Disorders
  • EuroGenetest, 2011
    Clinical utility gene card for: Usher syndrome.

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.