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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.