P279: Application of next-generation sequencing in the diagnosis of inherited metabolic disorders in Iran: An 11-year overview
The most common test ordered in individuals with diagnosis after 2 tests was exome (N=12), with diagnosis after 3 tests was Noonan/RASopathy panel (N=12), with diagnosis after 4 tests was exome (N=1).The individual who was diagnosed after 9 tests was diagnosed by a cardiac panel.This individual never had a Noonan/RASopathy panel or exome ordered, however symptoms were non-specific including developmental delays and mitral valve prolapse. Conclusion:The majority of individuals in this cohort did have a molecular diagnosis confirmed which demonstrates the remarkable advance in the molecular understanding of RASopathies.The most commonly ordered test was Noonan/RASopathy panel.Exome testing was the second most common test leading to diagnosis with utilization increasing over time.Of note, exome had a higher diagnostic yield than Noonan/RASopathy panel.This could be due to ongoing discovery of new genes in the RASopathy pathway and the ability of exome to incorporate candidate genes and non-specific clinical indications whereas a panel is curated and updates may be delayed.Exome should be considered an alternative first-tier testing to a Noonan/RASopathy panel when there is suspicion for a RASopathy diagnosis in order to improve diagnostic yield and timely diagnosis.
Authors
- Mahsa Tahmasebivand (ORCID: https://orcid.org/0009-0007-8215-0027)
- Bahram Haghi Ashtiani (ORCID: https://orcid.org/0000-0002-3373-740X)
- Kimia Kahrizi (ORCID: https://orcid.org/0000-0002-6587-7706)
- Parishad Saei
- Fatemeh Fatehi
- Ariana Kariminejad (ORCID: https://orcid.org/0000-0002-8467-4728)
- Mina Makvand (ORCID: https://orcid.org/0000-0001-7428-1106)
- Hilda Yazdan
- Zohreh Elahi
- Saeed Talebi (ORCID: https://orcid.org/0000-0002-8055-9335)
- Mahsa Fadaee
- Fatemeh Ahangari
- Shahriar Nafissi (ORCID: https://orcid.org/0000-0003-4763-4310)
- Mahmoud Reza Ashrafi (ORCID: https://orcid.org/0000-0001-5483-6549)
- Amir Ahmadpour (ORCID: https://orcid.org/0000-0002-7021-6275)
- Mehri Ashki
- Parvaneh Karimzadeh (ORCID: https://orcid.org/0000-0002-6302-9973)
- Farzad Fatehi (ORCID: https://orcid.org/0000-0002-6774-7825)
- Haleh Habibi
- Ali Asghar Okhovat (ORCID: https://orcid.org/0000-0002-9286-4943)
- Banafsheh Salmani
- Babak Zamani (ORCID: https://orcid.org/0000-0002-4527-5134)
- Maryam Beheshtian (ORCID: https://orcid.org/0000-0002-5609-7724)
- Shima Dehdahsi (ORCID: https://orcid.org/0009-0005-8188-5019)
- Fariba Afroozan
- Raheleh Vazehan (ORCID: https://orcid.org/0009-0001-6604-0836)
- Hossein Najmabadi (ORCID: https://orcid.org/0000-0002-6084-7778)
- Farhad Mahvelati Shamsabadi
- Abbas Ghaderi (ORCID: https://orcid.org/0000-0003-0849-3375)
- Zohreh Vahidi (ORCID: https://orcid.org/0000-0001-6471-2486)
- Afshin Fayyazi
- Elham Parsimehr
- Khadijeh Noudehi
- Shima Zamanian Najafabadi (ORCID: https://orcid.org/0009-0003-0514-2710)
- Payam Sarraf (ORCID: https://orcid.org/0000-0002-8386-5493)
- Mahdieh Kooshki
- Maryam Mozaffarpour Nouri
- Negar Molaei (ORCID: https://orcid.org/0009-0008-4360-3617)
- Parnian Alagha (ORCID: https://orcid.org/0009-0005-0574-6535)
- Elmira Shiuokhi
Institutions
- Hamedan University of Medical Sciences (IR)
- Iran University of Medical Sciences (IR)
- Imam Khomeini Hospital (IR)
- Firoozgar General Hospital (IR)
- Isfahan Fertility and Infertility Center (IR)
- Children's Medical Center (IR)
- University of Social Welfare and Rehabilitation Sciences (IR)
- Shahid Beheshti University of Medical Sciences (IR)
- Tehran University of Medical Sciences (IR)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.102244
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00