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)
Angelman syndrome SNRPN gene region 182279 105830   methylation sensitive MLPA methylation sensitive Pyrosequencing   2-4  
Angelman syndrome UBE3A 601623 105830   NGS/Sanger sequencing     2-4  
Angelman syndrome (paternal uniparental disomy 15) Chromosome 15   105830   methylation sensitive MLPA STR analysis In case of STR analysis parental samples are needed. 2-4  
Fabry disease GLA 300644 301500 Anderson-Fabry disease Sanger sequencing MLPA   2  
X-linked Adrenoleukodystrophie ABCD1 300371 300100   Sanger sequencing     2-4  
Transthyretin-related amyloidosis TTR 176300 105210   Sanger sequencing     2-4  
biotin-responsive basal ganglia disease SLC19A3 606152 607483   Sanger sequencing     2-4  
Hereditary motor and sensory neuropathy type 1A PMP22 601097 118220 Charcot-Marie-Tooth neuropathy type 1A MLPA NGS/Sanger sequencing   2-4 4-6
hereditary neuropathy with liability to pressure palsies PMP22 601097 162500 HNPP MLPA Sanger sequencing   2-4 2-4
spinal muscular atrophy SMN1 600354   SMA MLPA     1-3  
spinocerebellar ataxia ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, TBP     SCA Fragment analysis     2-4  
Pelizaeus-Merzbacher Disease PLP1 300401 312080   MLPA Sanger sequencing   2-4 2-4
Friedreich ataxia FXN* 606829 229300   Fragment analysis     2-4  
episodic ataxia type 2 CACNA1A 601011 108500   NGS/Sanger sequencing     2-4  
small fiber neuropathy SCN9A 603415 133020   NGS/Sanger sequencing     2-4  
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 NOTCH3 600276 125310 CADASIL, DEMENTIA, HEREDITARY MULTI-INFARCT TYPE NGS Sanger sequencing 4-5 ml EDTA blood 4-6 2-4
fragile X tremor ataxia syndrome FMR1 309550 300623 FXTAS Fragment analysis     2-4  


*External laboratory services. All other tests listed are carried out at site Ingelheim.