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.
| Disease | Gene/chromosomal region | OMIM-G | OMIM-P | 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) |
| Duchenne/Becker muscular dystrophy | DMD | 300377 | 310200, 300376 | DMD, BMD | MLPA | NGS | 2-3 | 4-6 | |
| Myotonic dystrophy type 1 | DMPK* | 605377 | 160900 | DM1, Dystrophia myotonica 1, Steinert disease | Fragment analysis | 10ml EDTA | 4-5 | ||
| Myotonic dystrophy type 2 | CNBP* | 116955 | 602668 | DM2, Dystrophia myotonica 2, Proximal myotonic myopathie, PROMM, Ricker syndrome | Fragment analysis | 10ml EDTA | 4-5 | ||
| Facioscapulohumeral muscular dystrophy | DUX4/DUX4L1* | 606009 | 158900 | FSHD, Landouzy-Dejerine muscular dystrophy | Fragment analysis | 10ml EDTA | 4-5 |
*External laboratory services. All other tests listed are carried out at site Ingelheim.