Monday, 13 October 2014

October 13th
Mutations in genes come in many different guises. They may be small changes in the thousands of units (bases) that make up the NEMO gene, or they may be larger alterations that cut out part or the entire gene. 83% of IP woman carry an identical change in the NEMO gene, where over ½ of the gene is missing. This can be tested via blood sample by means of molecular testing and will consistently show 83% with the common deletion.
About 20% of woman with IP do not have the common mutation. They may have a different change in the NEMO genetic code or have a different condition from IP altogether. Finding these changes is less routine as it requires rigorous searching of the whole gene sequence. Presently this cannot be done in many diagnostic laboratories but it is being undertaken by some.
Fact –
A diagnosis of IP can only be confirmed when a mutation in the gene is found. If nothing is found she may still have IP but it cannot be confirmed or ruled out. There also does not seem to be a difference in the severity of IP symptoms between those in the 80% and those in the 20%.
A woman with IP who is pregnant and her mutation is unknown may not be able to determine if the fetus she is carrying has the mutated NEMO gene, where as a woman who has IP confirmed through molecular testing can have her fetus tested and IP may be ruled out if she in fact did not pass it on to the current pregnancy.
The more IP cases that can be confirmed by DNA (molecular) testing the better.
*Attached is a link to all IP testing laboratories worldwide that are available and includes the type of testing each offer for IP. A worthy share for your geneticist if you are still searching for answers for your family.
October is IP awareness month... Spread the word... Spread awareness !
The Genetic Testing Registry (GTR) provides a central location for voluntary submission of genetic test information by providers. The scope includes the test's purpose, methodology, validity, evidence of the test's usefulness, and laboratory contacts and credentials. The overarching goal of the GTR…

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