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)
103280,604115 180860 Silver-Russell syndrome   methylation sensitive MLPA     2-4
  180860 Silver-Russell syndrome (maternal uniparental disomy 7)   methylation sensitive MLPA STR analysis In case of STR analysis parental samples are needed. 2-4
103280,604115 130650 Beckwith-Wiedemann syndrome   methylation sensitive MLPA     2-4
600856 130650 Beckwith-Wiedemann syndrome   Sanger sequencing     6-8
  616222 Temple syndrome (maternal uniparental disomy 14)   methylation sensitive MLPA STR analysis In case of STR analysis parental samples are needed. 2-4
312865 300582 SHOX deficiency short stature,Leri-Weill syndrome MLPA Sanger sequencing   2-3