Disorders

RIDDLE Syndrome

Synonym(s): Radiosensitivity, Immunodeficiency, Dysmorphic Features, and Learning Difficulties, RNF168 Deficiency

Gene	Locus	Protein
RNF168	3q29	E3 ubiquitin-protein ligase RNF168

Laboratory	Test Method	Prenatal	Carrier *
UCLA Medical Center, DNA Repair Clinical Testing Laboratory - Los Angeles, CA, USA	• Sequence analysis of the entire coding region • Protein analysis • Immunohistochemistry • Protein expression

^* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.