TESTING FOR THE NEMO MUTATION

With the identification of the NEMO gene and a common mutation present in over 85% of families, it is now possible to test individuals for their mutation by methods such as "Southern blotting", "PCR amplification" or "DNA sequencing". These are definitive methods expected to detect most (~95%) mutations.

Laboratories engaged in Incontinentia Pigmenti research can do the testing, but may be limited by the time and volume of work necessary to do it. These laboratories are primarily research-oriented, and therefore do not typically engage in large volumes of DNA testing. Research laboratories usually do not charge for the test, but participants need to be enrolled in an approved research study protocol.

Clinical testing is available currently for the common mutation in the US through referral by a physician. Please see the contact details below:

Medical Genetics Laboratories
Department of Molecular and Human Genetics
Mail: One Baylor Plaza, NAB 2015
Houston, TX 77030

Phone: 800-411-GENE (4363)
Fax: 713-798-6584

Email: genetictest@bcm.edu

HOW IS TESTING DONE AND WHO SHOULD BE TESTED?

Testing consists of sending a small blood sample to a designated laboratory. It may be possible to use other samples, such as cheek swabs, but this will be a subject of research. Laboratory analysis may take weeks or even months. Samples from all members of an IP patient's family can be tested to determine who carries the mutation. This may be helpful in family planning. If possible a genetic test should be done on all fetuses that are spontaneously aborted by a woman with IP. Ideally, genetic testing should be carried out in conjunction with an environment that offers genetic counseling.

Testing for mutation is especially indicated in affected females contemplating pregnancy, and considering prenatal testing. Confirmation of a diagnosis of IP will also be a significant use of DNA testing.

Appropriate genetic counseling should be sought in addition to a genetic test. Please consult your physician for a genetics consultation--your genetic counselor should be able to refer your case to the appropriate testing location closest to your home country.