Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Gamma-glutamyl carboxylase

The gene encodes an enzyme that is responsible for posttranslational modification of a vitamin K-dependent protein. Mutations of this gene result in bleeding disorders as seen durin wafarin medication. Coagulation factors II, VII, IX, and X are reduced.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Combined deficiency of vitamin K-dependent clotting factors type 1
GGCX
Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency
GGCX
Update:
Copyright © 2005-2020 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues