Single gene sequencing? MLPA?

 

In addition to the latest high-throughput sequencing, we also offer a broad spectrum of other methods such as Sanger sequencing or MLPA (multiplex ligation-dependent probe amplification) for the diagnosis of a variety of diseases and syndromes. Here you will find a selection of these analyses for the selected indication area. Please contact us if you have any questions or if you cannot find the analysis you are looking for in the list.

OMIM-G OMIM-P Disease Synonym(s) Method 1 Method 2 Material (if different from 3-5 ml EDTA or 1-5 µg DNA) TAT method 1 (weeks)
141800/141850 604131 alpha thalassemia hemoglobinopathy, microcytic hypochrome anemia       2-4
141900 613985 beta thalassemia hemoglobinopathy, microcytic hypochrome anemia       2-4
141900 603903 sickle cell anemia HbS       1-2
305900 300908 glucose-6-phosphate dehydrogenase deficiency G6PD deficiency Pyrosequencing     2-3