Molecular Diagnostic Procedures and Genetics in Neuromuscular Disorders
Clues for Differential Diagnosis of Neuromuscular Disorders, Springer International Publishing Ag, ss.95-102, 2023
- Yayın Türü: Kitapta Bölüm / Araştırma Kitabı
- Basım Tarihi: 2023
- Doi Numarası: 10.1007/978-3-031-33924-0_7
- Yayınevi: Springer International Publishing Ag
- Sayfa Sayıları: ss.95-102
- Anahtar Kelimeler: Genetics, Molecular diagnostics, Multiplex ligation-dependent probe amplification, Next generation sequencing, Sanger sequence method, Triplet-primed PCR
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
Hereditary neuromuscular disorders occur when the function of a gene is disrupted. Different molecular genetic testing approaches are used to identify this loss of function. However, without the guidance of the clinician or pathologist, it is difficult to determine the candidate genes for analysis and the methods to be used. In addition, loss of time, resources and workforce may occur. For this reason, the diagnosis of neuromuscular disorders should be made with a multidisciplinary approach. In this chapter, the principles of molecular analysis used in the differential diagnosis of neuromuscular disorders and the techniques of different analysis methods used are explained. How are the results of these investigations interpreted? Questions such as whether every genetic change indicates a disease or whether DNA extracted from a blood sample, such as mitochondrial diseases, may not be diagnostic, are answered. In addition, a glossary of genetic terms is presented.