Single-nucleotide polymorphism arrays and unexpected consanguinity: considerations for clinicians when returning results to families

摘要

Purpose: The broad use of single-nucleotide polymorphism micro-arrays has increased identification of unexpected consanguinity. Therefore, guidelines to address reporting of consanguinity have been published for clinical laboratories. Because no such guidelines for clinicians exist, we describe a case and present recommendations for clinicians to disclose unexpected consanguinity to families.