While, linkage analysis is inapplicable for de novo mutations or in subjects that lack a positive family history.[10, 11] For instance, Neurofibromatosis type 1 (NF1, prevalence 1:2500‐1:3000) is caused by mutations in the NF1 gene and is a common neurocutaneous disorder with a de novo mutation rate of up to 50%.[14] This high de novo mutation rate and the existence of multiple pseudogenes altogether presents a challenge for both linkage analysis and direct mutation detection in embryos.[15]. Here, NF1 is linked to neurofibromatosis type 1.