The utility of whole-exome sequencing in accurate diagnosis of neuromuscular disorders in consanguineous families in Jordan

CONCLUSION: Utilization of WES is helpful to facilitate rapid and accurate NMDs diagnosis, complementing a thorough clinical evaluation. This approach can be invaluable to aid in the identification of genetic risks among consanguineous couples. Subsequently, well-informed genetic counselling and potential individualized treatment can be provided.PMID:34624274 | DOI:10.1016/j.cca.2021.10.001

Source: International Journal of Clinical Chemistry - October 8, 2021 Category: Chemistry Authors: Nidaa A Ababneh Dema Ali Ban Al-Kurdi Raghda Barham Isam K Bsisu Deema Dababseh Sally Arafat Asim N Khanfar Leen Makahleh Abdee T Ryalat Malik Sallam Mohammed El-Khateeb Basil Sharrack Abdalla Awidi Source Type: research