XPC and xeroderma pigmentosum group C: NGS, with a minimal set of long-range PCR primers, detected a homozygous frameshift mutation in <i>XPC</i>; NM_004628.5:c.218_219insT p.(Lys73AsnfsTer9), confirmed by Sanger sequencing, leading to a rapid diagnosis of XP group C. This shortcut strategy is applicable to all autosomal recessive diseases caused by consanguineous marriages, especially in scenarios with a moderate number of genes to test, a common occurrence in clinical genetic practice.