Detection of genetic variants in PRDM16 occurs with routine diagnostic next generation approaches such as targeted gene panels or whole exome sequencing. In non-syndromic cardiomyopathy protein length changing and missense PRDM16 variants were identified. Rare, protein length changing PRDM16 variants are likely causative for LVNC and DCM. Genetic interpretation of PRDM16 missense variants is currently limited due to missing functional protein information.
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 and no common breakpoint was identified. Genetic defects of PRM16 associated with 1p36 deletion syndrome need to be identified with MLPA or region-specific microarray based comparative genome hybridization (array-CGH).