U.S. flag

An official website of the United States government

GTR Home > Tests > Peripheral myelin protein 22 (PMP22) gene dosage evaluation by MLPA analysis

Overview

Test order codeHelp: 28-6.05

Test name

Help

Peripheral myelin protein 22 (PMP22) gene dosage evaluation by MLPA analysis (CMT1A)

Purpose of the test

Help

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

Condition

Help

Loading data ......

Click Indication tab for more information.

How to order

Help

Completion of the laboratory referral letter by the referring physician/scientist. Provision of a signed informed consent form. Both forms are available on the laboratory website.
Order URL Help: http://www.cing.ac.cy/easyconsole.cfm/id/364

Specimen source

Isolated DNA
Peripheral (whole) blood

Methodology

Help
Molecular Genetics
DDeletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
  • Applied Biosystems 3130 Genetic Analyzer

Summary of what is tested

Loading data ......

Click Methodology tab for more information.

Clinical utility

Help

Establish or confirm diagnosis

Clinical validity

Help

Not provided

Test services

Help
  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Custom Prenatal Testing
  • Custom mutation-specific/Carrier testing

Practice guidelines

  • EuroGenetest, 2010
    Clinical utility gene card for: HMSN/HNPP HMSN types 1, 2, 3, 6 (CMT1,2,4, DSN, CHN, GAN, CCFDN, HNA); HNPP

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.