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|
|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|
|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.