Guest guest Posted March 3, 2007 Report Share Posted March 3, 2007 hi, what kind of test do i need to tell the type of my cmt i have? john b Quote Link to comment Share on other sites More sharing options...
Guest guest Posted March 3, 2007 Report Share Posted March 3, 2007 , The " types " , or rather the individual " subtypes " , can be tested by DNA bloodwork. One lab in the USA does it. Your doc can get in touch withhttp://www.athenadiagnostics.com/ DNA material is extracted from the white blood cells. As of Nov. 2005, when I last spoke with Amar at Athena, testing can be done for types CMT1A, 1B, 1C, 1D, 1E, 1F, 1X, 2X, 3X, 2A, 2B, 2C, 2D 2E, 2F, 2I, 2J, 2K, 4A, 4E, 4F, HNPP, CHN, DSN . In addition, testing is now available for CMT Type 3 (formerly known as Dejerine Sottas) and now considered to be a variant of CMT Type 1. The CMT Genes related to these " types " are: PMP22, CX32, MPZ (P0), EGR2, NFL, PRX, GDAP1, LITAF/SIMPLE, MFN2. Of all the clinically diagnosed CMT cases, DNA testing from Athena can confirm approx. 70- 80% of cases. To order tests from Athena, physicians simply have to complete the appropriate test requisition, fax it to Athena to schedule a blood draw or send the patient to a local lab for blood draw. If Athena schedules the blood draw, the person collecting the blood will FedEx the blood sample to Athena. If a local lab performs the blood draw, they FedEx the sample to us. Either way, the sample arrives at Athena within 48 hrs of blood draw. DNA can be extracted from the blood for up to 30 days after the draw, so this does not cause any problem. Athena pays all blood draw and shipping costs. ~ Gretchen Quote Link to comment Share on other sites More sharing options...
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