Molecular characteristics

Detection of genetic variants in PRDM16 occurs with routine diagnostic next generation approaches such as gene panel or whole exome sequencing. For LVNC and DCM protein length changing and missense PRDM16 variants were identified.

Cytogenetic analysis of the 1p36 deletion syndrome occurs in routine diagnostics with ffluorescence in situ hybridization (FISH) testing, multiplex ligation-dependent probe amplification (MLPA) or microarray based comparative genome hybridization (array-CGH). The deleted chromosomal region is variable in a range of approx. 1.5 Mbp up to 10 Mbp.