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 |