HIBM/IBM2 Genetic Testing & Consultation

We offer genetic consultation and testing for HIBM/IBM2. The test maybe performed either on whole blood or buccal epithelial cells (obtained by mouth swab/mouthwash).

Information from genetic testing can affect the lives of individuals and their families. Therefore, we require pre and post-test genetic consultation by a qualified healthcare professional. Patients considering genetic testing should see a genetic counselor, or another qualified healthcare professional, prior to testing. It is important to discuss all possible test results, and consider how such results may affect the life of the individual and his/her loved ones.

HRG performs genetic testing necessary for the identification, diagnosis, and/or treatment of patients. Most patients from middle-east affected with HIBM/IBM2 share the founder Iranian-Jewish mutation GNE-M712T. The method used to detect the GNE-M712T mutation associated with people of Iranian-Jewish heritage involves a multiplex PCR technique designed specifically to amplify both normal and mutated alleles.

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In the above gel picture, lanes 1-4 contain product from 4 controls, respectively wildtype (WT), heterozygous (HT), homozygous (HO), and buffer control (BC). Lane 5 contains DNA size ladder (SL). Product result from test specimens were loaded in lanes 6-20. The test results for specimens in lanes 8 and 11 are WT, test results for specimens in lanes 15, 16, and 20 are HO, and the test results for the rest of the specimens are HT. Except for lanes 4 (buffer control) and 5 (size ladder), all other lanes show the top band (399 bp DNA segment); HT and HO also show the middle band (299 bp); HT and WT also show the lower band (147 bp).

For more information , please contact us.

*Revenue generated from services are used to speed up development of a treatment for IBM2.
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