Now You Can Diagnose 80% Of Your CMT1 Patients
Introducing The Comprehensive CMT1 Evaluation Profile

(Effective July 31, 1995)

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This exclusive profile, named the CMT1 Evaluation Profile, consisting of: a) pulse-field-gel electrophoresis for the identification of the CMT1A duplication in the PMP22 gene, and b) DNA sequencing for the identification of CMTX point mutations in the connexin32 gene is estimated to identify upwards of 80% of all cases of demyelinating CMT disease. No other method of evaluation can give definitive results with this level of accuracy, efficiency or convenience to your patients.

Distinguishing between CMT1A and CMTX based on clinical and family history or NCV results alone is often extremely difficult. Complicating the clinical diagnosis further is the high rate of affected female carriers of the CMTX mutations, thus the CMTX family pedigrees often do not demonstrate an X-linked transmission pattern (i.e., no male-to-male transmission of disease). CMTX should be considered in all families without male-to-male transmission of the disease. The CMT1 Evaluation Profile is particularly valuable for differentiating between these two most common causes of CMT1.

The analysis of your patients is fast and cost-effective. If a CMT1A duplication is detected, a report is generated and the test will be billed at $425. If the test is negative Athena Diagnostics will perform the CMTX analysis and the complete profile will cost $770. Your patient is only tested for what is indicated and only billed for what is tested. You only have to order testing once.

Following the molecular diagnosis of a proband with either CMT1A or CMTX, other at-risk family members can be evaluated by analysis of the individual CMT1A or CMTX analysis offered by Athena Diagnostics. For assistance in determining at-risk family members Athena Diagnostics' molecular geneticist and genetic counselor are available for complimentary consultations.

To speak with our genetics team or to obtain more information about our new CMT1 Evaluation Profile please call our Client Service Department at 1-800-394-4493.

* The CMTX analysis is specific for the identification of connexin32 gene mutations resulting in CMTX1, the most prevalent type of CMTX, accounting for approximately 21% of CMT1 cases [³].

References:

1. Chance, P.F., Genetics in Neurology Course, American Academy of Neurology 1995 Annual Meeting, 1995; 345:91-102.
2. Fairweather, N., et al. Human Molecular Genetics 1994; 3:29-34.
3. lonasescu, V.V., Muscle & Nerve 1995; 18:267-275.