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)
182279 176270 Prader-Willi syndrome   methylation sensitive MLPA methylation sensitive Pyrosequencing   2-4
  176270 Prader-Willi syndrome (maternal uniparental disomy 15)   methylation sensitive MLPA STR analysis In case of STR analysis parental samples are needed. 2-4
182279 105830 Angelman syndrome   methylation sensitive MLPA methylation sensitive Pyrosequencing   2-4
601623 105830 Angelman syndrome   NGS/Sanger sequencing     2-4
  105830 Angelman syndrome (paternal uniparental disomy 15)   methylation sensitive MLPA STR analysis In case of STR analysis parental samples are needed. 2-4
    Uniparental disomies   STR analysis   In case of STR analysis parental samples are needed. 2-4
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