DNA

Background and utility

The Radboudumc Iron Center offers DNA diagnostics for nuclear encoded genes related  to inherited disorders of iron metabolism.

 

Technique(s)

Single gene analysis by Sanger Sequencing is available for 21 iron metabolism- related genes. Multiplex Ligation-dependent Probe Amplification (MLPA) is available to detect small deletions in the TMPRSS6 gene.
In addition to sequencing individual genes, we also offer: 1. sequencing of phenotype-specific gene panels (congenital dyserythropoietic anemia; sideroblastic anemia; microcytic anemia due to iron disorder; hemochromatosis) and 2. whole exome sequencing (WES) as a diagnostic test for genes involved in iron metabolism. Analysis of WES data is performed in two steps. First, a package of more than 40 genes known to be associated with iron metabolism disorders is examined and results are reported. In case there are no pathogenic mutants found in this package, the complete exome is examined for mutations in genes not previously known to be associated with human iron metabolism disorders. All variants that are identified by exome sequencing are validated by Sanger sequencing.

 

Responsible laboratory

DNA analysis are performed by the Department of Laboratory Medicine – Translational Metabolic Laboratory –  and the Department of Genetics of Radboudumc.

 

More information

For requests single gene analysis

  Link Dutch version

  Link English version

For phenotypic gene panels

  Link Dutch version

  Link English version

For requests exome sequencing

  Links Dutch version: link 1; link 2

  Link English version