Genetic Tests

Item	Details
Gene/Locus name	PMP22 What are gene names?
Long Name	peripheral myelin protein 22
Edit date	01:15 PM, 07 Dec 2011
MBS listing	No MBS Listing
Laboratories	Australian and New Zealand laboratories providing this test can be found by clicking here.
Method	Laboratories may use a variety of methods to identify genetic variants. The sensitivity and specificity of these methods can vary, and some pathogenic variants in the gene may not be identified. The failure to identify a pathogenic variant may not necessarily mean that the gene is normal. Requestors should seek further advice from the laboratory.
Reference sequence	NM_000304
Application	Variations in this gene/locus can be associated with following disorder/s: DEJERINE-SOTTAS DISEASE, OMIM 145900 ROUSSY-LEVY SYNDROME, OMIM 180800 CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A, OMIM 118220 CHARCOT-MARIE-TOOTH DISEASE, TYPE 1E, OMIM 118300 NEUROPATHY, RECURRENT, WITH PRESSURE PALSIES, OMIM 162500 Requestors should be aware that testing for inherited genetic variants often raises significant medical, ethical, psychological, and legal issues. Testing should be done in accordance with national guidelines which address clinical issues NHMRC and laboratory requirements NPAAC. Consultation with the genetics laboratory, a specialist clinician, or a clinical genetics service may be warranted.
Interpretation / Comment	Laboratory methods do not necessarily identify all of the clinically significant variants in a gene. The failure to identify a variant does not necessarily mean that the gene is normal. Variants in a gene may cause more than one disease, and the identification of a clinically significant variant does not necessarily indicate the specific disease that the patient or relatives may be at risk of developing. Conversely, the disease/s associated with a gene might also be caused by mutations in other genes, and the failure to identify a clinically significant variant in one gene does not necessarily alter the clinical diagnosis or risk for relatives.
Reference	OMIM 601097

The following information is provided and updated from time to time by laboratories providing genetic testing. The list of laboratories is not an exhaustive list of the laboratories that provide such testing. Links to a third party website are provided for convenience only. The Royal College of Pathologists of Australasia (RCPA) accepts no responsibility for, and makes no representation concerning, the accuracy, appropriateness, and completeness of the information contained on the following pages or on any linked websites. The RCPA does not provide any direct or implied endorsement of the tests or laboratories listed, and accepts no responsibility for the information provided. The RCPA recommends that all medical testing be performed in an accredited laboratory, and emphasises that the listing of a test or laboratory on this page does not imply that it has been accredited by NATA/RCPA or any other organisation. Users of this information should seek expert professional advice before making any decisions based on this information. Please note that charges may apply for gene tests; enquiries about charges should be made to the laboratory to which a sample is to be referred prior to referral. Users access the linked websites at their own risk.

The Rotal College of Pathologists of Australia