Improved – ME033 TNDM – Featuring Updated Target and Reference Probes

Transient Neonatal Diabetes Mellitus (TNDM) is an imprinting disorder caused by disruption or epimutation of imprinted genes. Major causes of TNDM are: 

• Paternal uniparental disomy of chromosome 6 (pUPD6): ~40% of cases 
• Duplication of the 6q24 paternal allele: ~30% of cases
• Hypomethylation of the maternal PLAGL1 differentially methylated region: ~30% of TNDM cases. Hypomethylation can be related to either an isolated imprinting variant or to broader multi-locus imprinting disturbances, with the ZFP57 gene playing an important role in the latter.

SALSA^® MLPA^® Probemix ME033 TNDM is an assay for the detection of aberrant methylation of one or more sequences of the PLAGL1 gene on the 6q24 chromosomal region as well as deletions/duplications in the PLAGL1 gene, the chromosomal regions 6p22 and 6q24, and the chromosomal region 11p15.

ME033 TNDM just received a major update with version B1 featuring the addition of five new target probes and the replacement of seven target probes as well as all ten reference probes, further refining the performance of the probemix in order to detect the majority of TNDM cases.