Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The protein encoded by MAT1A is an important enzyme of sulfur-containing amino acid metabolism. It is mostly that homozygous loss-of-function mutations cause isolated persistent hypermethioninemia and toxic effects on several organs ensue. Although predominantly an recessive disorder, the mutation p.R264H(CGT>CAT) causes a dominant type of inheritance.
| 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 | 20 days | |
| Specimen type | genomic DNA |
 |
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 |
