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  Laura M Richter
  President and CEO
  30 East 72nd Street
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  Mailing Address:
  78 Saint Moritz Dr
  Erial, NJ 08081 U.S.A.

  Tel: 212 452 1231
  Fax: 212 452 1231
  Email: ipif@ipif.org

  Susanne Bross Emmerich
  Founder

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  Incontinentia Pigmenti International Foundation



TESTING FOR THE NEMO GENE

With the identification of the NEMO gene and a mutation present in some 70% of families, it is now possible to test individuals for their specific 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.

A list of laboratories where testing can be done will be routinely updated here.

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.

How long will it take to get results? The test itself should take 4 weeks to perform, but heavy demand may extend this period.

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.

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.


The following laboratories test the NEMO gene for mutations in IP:

FRANCE

Hôpital Necker - Enfants Malades
Tour Lavoisier 149 rue de Sèvres –
75743 PARIS cedex 15
Mme Asma Smahi
Tel: (33) 01 44 49 78 15
Fax: 01 47 34 85 14
Email: asma.smahi@inserm.fr
Web site:  http://www.necker.fr/irnem    

ITALY

Institute of Genetics and Biophysics
"Adriano Buzzati-Traverso"
111, Via Pietro Castellino
80131 Napoli Italy
phone/FAX: +39 081 6132262
Att: M. Valeria Ursini
Email: ursini@igb.cnr.it
Web site: www.igb.cnr.it

UNITED KINGDOM

Rebecca J L Treacy
FRCPath Deputy Director 
Genetics Laboratories (Molecular Genetics)
East Anglian Medical Genetics Service
Genetics Laboratories
Molecular Genetics, Box 158
Level 6, Addenbrooke's Treatment Centre
Addenbrooke's Hospital
Cambridge CB2 0QQ
Tel: 01223 348866 Fax: 01223 348870
Email:
 becky.treacy@addenbrookes.nhs.uk
Website:
 www.addenbrookes.org.uk/moleculargenetics

UNITED STATES

Baylor College of Medicine
Medical Genetics Laboratories
2450 Holcombe,Houston,Texas 77021-2024
Tel: 713-798-6555 • 1-800-411-GENE (4363)
Fax: 713-798-6584
Email: genetictest@bcm.tmc.edudnalab@bcm.tmc.edu
Website: www.bcmgeneticlabs.org

Additional List of Testing Laboratories Supplied by NIH
http://www.ncbi.nlm.nih.gov/gtr/tests/?term=Incontinentia+Pigmenti


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