Test Diagnosis

There are now several places that can perform DNA test for the COL6a diseases.

University of Utah Genome Center

CHOPS-Children's Hospital of Philadelphia, Dr. Carsten Bonnemann, skin test for Collagen 6 defects.

Tom Winder of Prevention Genetics-more info to follow soon.

OTHER TESTS

It has been shown recently that patients suffering from the col6a diseases might have a Vitamin D deficiency thus promoting bone weakness.  A vitamin D blood test can test for this deficiency.  Also a DXA bone scan may be needed to detect whether you are subject to fractures.

Patients are encouraged to have a sleep study done to detect diaphragmatic weakness.  A BiPAP machine may be needed to help with night time breathing.   As I have recently started using a BiPAP I can give you my experiences if you are interested.  Please use the contact us page to send me an email.