This page copies a portion of a pamphlet produced by Athena Diagnostics. Last updated: 4/28/1996.

Athena Diagnostics

Example of diagnostic service report CMT1 Evaluation profile

Athena Diagnostics, formerly Genica Pharmaceuticals Corporation, is located at Four Biotech Park, 377 Plantation Street, Worchester, MA 01605. They can be reached by calling 1-800-394-4493.

Diagnostic Service Reports provide comprehensive test results including detailed interpretation with in-depth comments and follow-up recommendations.

EXAMPLE OF DIAGNOSTIC SERVICE REPORT

CMT1 Evaluation Profile - CMTX1 positive male
Interpretation:
This individual possesses a mutation in the coding region of the connexin32 gene and therefore is likely to be affected with or predisposed to the most common form of X-linked Charcot-Marie-Tooth disease (CMTX1).

Technical Results:

PMP-22

allele 1: normal
allele 2: normal

Connexin32 allele

DNA mutation:transition (C -->T)
Nucleotide position: (509)
Codon position: (45)
Amino acid change: (leucine --> valine)

Methods:
Direct testing for the CMT1A mutation (a duplication of the PMP-22 gene) and the HNPP mutation (a deletion of the PMP-22 gene) was performed by Southern blot analysis of pulsedfield gel electrophoresed genomic DNA. Direct testing for connexin32 gene mutations was performed by PCR amplification and automated DNA sequencing.

This test is performed pursuant to a PCR license agreement with Roche Molecular Systems, Inc.
CMT1A U S Patent No. 5,306,616

Comments:
Sequencing of this individual's connexin32 gene demonstrated the presence of a CMTX1 mutation. Although individuals with this mutation are likely to demonstrate symptoms associated with CMTX1, clinical prognosis cannot be predicted based on the identification of this mutation. This analysis did not detect either a duplication or deletion of the PMP-22 gene associated with CMT1A or HNPP. This analysis, as performed here, is greater than 99% accurate.

CMTX1 is inherited as an X-linked dominant disorder in which both males and females manifest symptoms of the disease. All female offspring of affected males will inherit the mutation. Genetic counseling for this individual's family members is recommended and CMTX1 testing for at- risk family members may be indicated, Family member testing for these individuals is available from Athena Diagnostics.

References:
  1. Lupski, J.R., et al. Cell 1991; 66: 219-232@
  2. Lupski, J.R., et al. JAMA 1993; 270: 2326-2330@
  3. Bergoffen, J., et al. Science 1993; 262: 2039-204 1.
  4. Ionasescu, V.V., et al. Muscle & Nerve 1995; 18: 267-275.