Tehran University of Medical Sciences Iranian Journal of Public Health 2251-6085 48 10 2019 10 05 1910 1915 Niloofar BAZAZZADEGAN Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran Raheleh VAZEHAN Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran Mahsa FADAEE Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran Zohreh FATTAHI Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran Ayda ABOLHASSANI Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran Elham PARSIMEHR Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran Zahra KALHOR Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran Mehrshid FARAJI ZONOOZ Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran Fatemeh AHANGARI Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran Shima DEHDAHSI Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran Farshide SAMIEE Genetic Medical Counseling Center, Qazvin, Iran Payman JAMALI Shahrood Genetic Counseling Center, Welfare Office, Shahrood, Iran Haleh HABIBI Genetic Counseling Center, Family Health Clinic, Mobasher Hospital, Hamedan, Iran Younes NOURIZADEH Genetic Counseling Center Welfare Organization, Ilam, Iran Shokouh MAHDAVI Welfare Institution Genetic Office, Tehran, Iran Maryam BEHESHTIAN Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran Ariana KARIMINEJAD Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran Richard JH SMITH Department of Otolaryngology-Head and Neck Surgery, Molecular Otolaryngology & Renal Research Laboratories, Carver College of Medicine, University of Iowa, Iowa City, IA, USA Hossein NAJMABADI Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran 2019 10 05 Background: Diagnosis of hereditary hearing loss (HHL) as a heterogeneous disorder is very important espe-cially in countries with high rates of consanguinity where the autosomal recessive pattern of inheritance is preva-lent. Techniques such as next-generation sequencing, a comprehensive genetic test using targeted genomic en-richment and massively parallel sequencing (TGE + MPS), have made the diagnosis more cost-effective. The aim of this study was to determine HHL variants with comprehensive genetic testing in our country. Methods: Fifty GJB2 negative individuals with HHL were referred to the Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, one of the reference diagnostic genetic laboratories in Iran, during a 3-year period between 2014 and 2017. They were screened with the OtoSCOPE test, the targeted genomic enrichment and massively parallel sequencing (TGE + MPS) platform after a detailed history had been taken along with clinical evaluation. Results: Among 32 out of 50 GJB2 negative patients (64%), 34 known pathogenic and novel variants were de-tected of which 16 (47%) were novel, identified in 10 genes of which the most prevalent were CDH23, MYO7A and MYO15A. Conclusion: These results provide a foundation from which to make appropriate recommendations for the use of comprehensive genetic testing in the evaluation of Iranian patients with hereditary hearing loss. https://ijph.tums.ac.ir/index.php/ijph/article/view/18556 https://ijph.tums.ac.ir/index.php/ijph/article/download/18556/6545