Test Sensitivity

Connective Tissue Gene Test offers DNA sequencing and where appropriate high-density targeted array for copy number variation analysis. This approach will provide the highest sensitivity possible for mutation detection.

Connective Tissue Gene Tests has performed many thousands of genetic tests and has compiled very extensive mutation and polymorphism databases on individuals suspected of having connective tissue disorders.

Based on this experience it is clear that published estimates of test sensitivity for genes linked to certain disorders can be very inaccurate, and that it’s difficult to predict the probability of detecting a mutation in any single gene for one individual.  There are a number of factors that contribute to this challenge:

• Many disorders have overlapping phenotypes.
• Some disorders are linked to mutations in more than one gene.
• In some instances genes remain to be linked to specific disorders.
• For most disorders, proper diagnosis requires that clinical findings are considered along with genetic test findings.

Because of these factors, the accurate interpretation of specific mutations in genes often requires considerable skill and experience.  Connective Tissue Gene Tests’ extensive experience and unique databases enable us to determine the significance of changes detected in analyzed genes.  In several instances, the structure and sequence of genes that we offer mutation detection for were first determined by a member of our laboratory.  In other instances Connective Tissue Gene Tests was the first to offer testing for specific disorders.  These facts ensure that we have the knowledge and experience to generate reports containing information in which the submitting facility can have confidence.

As an ordering clinician, you can help to ensure the highest test accuracy by providing as much clinical information about your patient and their family as possible. When required, our experts are available for consultation to aid you with test selection and diagnosis.

To speak with a physician or genetic counselor at CTGT, please select Contact Us.