Whole genome sequencing of an autoimmune polyglandular involvement patient

Detection Method This test employs whole-genome high-throughput sequencing technology. Data analysis is conducted using Berry Genomics' proprietary Verita Trekker variant detection system and Enliven variant annotation and interpretation system. Test Results A variant in the KMT2D gene was detected in the sample, interpreted as likely pathogenic. This variant is associated with syndromes such as branchial arch anomalies, choanal atresia, nipple hypoplasia, hearing loss, and hypothyroidism (OMIM:620186), as well as Kabuki syndrome type 1 (OMIM:147920). No relevant abnormal tandem repeats within the dynamic mutation range were detected in the subject or family members.