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.

Gene/chromosomal region Disease Synonym(s) Method 1 Method 2 Material (if different from 3-5 ml EDTA or 1-5 µg DNA) TAT method 1 (weeks) TAT method 2 (weeks)
SNRPN gene region Prader-Willi syndrome   methylation sensitive MLPA methylation sensitive Pyrosequencing   2-4  
Chromosome 15 Prader-Willi syndrome (maternal uniparental disomy 15)   methylation sensitive MLPA STR analysis In case of STR analysis parental samples are needed. 2-4  
SNRPN gene region Angelman syndrome   methylation sensitive MLPA methylation sensitive Pyrosequencing   2-4  
UBE3A Angelman syndrome   NGS/Sanger sequencing     2-4  
Chromosome 15 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  
Chromosomal region 11p15 Silver-Russell syndrome   methylation sensitive MLPA     2-4  
Chromosome 7 Silver-Russell syndrome (maternal uniparental disomy 7)   methylation sensitive MLPA STR analysis In case of STR analysis parental samples are needed. 2-4  
Chromosomal region 11p15 Beckwith-Wiedemann syndrome   methylation sensitive MLPA     2-4  
CDKN1C Beckwith-Wiedemann syndrome   Sanger sequencing     6-8  
Chromosome 14 Temple syndrome (maternal uniparental disomy 14)   methylation sensitive MLPA STR analysis In case of STR analysis parental samples are needed. 2-4  
GLA Fabry disease Anderson?Fabry disease Sanger sequencing MLPA   2  
chromosomal region 22q11.2 DIGeorge syndrome CATCH22 MLPA     2-4  
HEXA Tay Sachs syndrome   NGS/Sanger sequencing MLPA   2-4 2-4
MECP2 Rett syndrome   Sanger sequencing MLPA   2-4 2-4
FMR1 fragile X syndrome   Fragment analysis     2-4