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)
G6PD glucose-6-phosphate dehydrogenase deficiency G6PD deficiency Pyrosequencing     2-3  
LCT lactose intolerance   Pyrosequencing     1-2  
MTHFR MTHFR deficiency Homocystinuria due to MTHFR deficiency; MTHFR variant C677T Pyrosequencing     1-2  
BTD biotinidase deficiency   Sanger sequencing     2-4  
SERPINE1 Plasminogen activator inhibitor-1 deficiency PAI1 deficiency Pyrosequencing     1-2  
UGT1A1 Gilbert syndrome   Pyrosequencing     1-2  
ATP7B Wilson disease   NGS MLPA   4-6 2-3
CFTR Cystic Fibrosis   specific kit NGS/Sanger sequencing   2-3 4-6
CFTR CBAVD congenital bilateral absence of vas deferens specific kit NGS/Sanger sequencing   2-3 4-6
CFTR Hereditary pancreatitis   specific kit NGS/Sanger sequencing   2-3 4-6
PRSS1 Hereditary pancreatitis   Sanger sequencing     2-4  
SPINK1 Hereditary pancreatitis   Sanger sequencing     2-4  
ALDOB Hereditary fructose intolerance   Sanger sequencing     2-3  
HEXA Tay Sachs syndrome   NGS/Sanger sequencing MLPA   2-4 2-4
GBA* Gaucher disease   Sanger sequencing     2-4  
HPRT1 Lesch-Nyhan syndrome   Sanger sequencing MLPA   2-4 2-4
PNPLA3 non-alcoholic fatty liver disease NASH Pyrosequencing   4-5 ml EDTA blood 1-2  
FMO3 Trimethylaminuria fish odor syndrome, FOS NGS/Sanger sequencing     2-4  


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