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 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  
GLA Fabry disease Anderson-Fabry disease Sanger sequencing MLPA   2  
ABCD1 X-linked Adrenoleukodystrophie   Sanger sequencing     2-4  
TTR Transthyretin-related amyloidosis   Sanger sequencing     2-4  
SLC19A3 biotin-responsive basal ganglia disease   Sanger sequencing     2-4  
PMP22 Hereditary motor and sensory neuropathy type 1A Charcot-Marie-Tooth neuropathy type 1A MLPA NGS/Sanger sequencing   2-4 4-6
PMP22 hereditary neuropathy with liability to pressure palsies HNPP MLPA Sanger sequencing   2-4 2-4
SMN1 spinal muscular atrophy SMA MLPA     1-3  
ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, TBP spinocerebellar ataxia SCA Fragment analysis     2-4  
MECP2 Rett syndrome   Sanger sequencing MLPA   2-4 2-4
PLP1 Pelizaeus-Merzbacher Disease   MLPA Sanger sequencing   2-4 2-4
FXN Friedreich ataxia   Fragment analysis     2-4  
CACNA1A episodic ataxia type 2   NGS/Sanger sequencing     2-4  
SCN9A small fiber neuropathy   NGS/Sanger sequencing     2-4  
NOTCH3 Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 CADASIL, DEMENTIA, HEREDITARY MULTI-INFARCT TYPE NGS Sanger sequencing 4-5 ml EDTA blood 4-6 2-4
FMR1 fragile X syndrome   Fragment analysis     2-4  
FMR1 fragile X tremor ataxia syndrome FXTAS Fragment analysis     2-4