Test Catalog

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Test ID: PMPDD    
PMP22 Gene, Large Deletion and Duplication Analysis

Useful For Suggests clinical disorders or settings where the test may be helpful

Diagnosis of Charcot-Marie-Tooth type 1A or hereditary neuropathy with liability to pressure palsies

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

This test assesses for large deletions and duplications only.

Highlights

This test may aid in the diagnosis of Charcot-Marie-Tooth type 1A or hereditary neuropathy with liability to pressure palsies.

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

See Hereditary Peripheral Neuropathy Diagnostic Algorithm in Special Instructions.

Special Instructions Library of PDFs including pertinent information and forms related to the test

Method Name A short description of the method used to perform the test

Dosage Analysis by Polymerase Chain Reaction (PCR)/Multiplex Ligation-Dependent Probe Amplification (MLPA)

NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

PMP22 Gene, Deletion/Duplication

Aliases Lists additional common names for a test, as an aid in searching

CMT1A
Charcot-Marie-Tooth type 1A
Hereditary neuropathy
Motor and Sensory Neuropathy
Hereditary neuropathy with liability to pressure palsies
PMPDD
PMP22