Mechanisms and diagnostic methods in neurogenetic disease

BİŞGİN A., Rencuzogullari C., Bozdogan S. T.

CUKUROVA MEDICAL JOURNAL, vol.44, pp.13-16, 2019 (ESCI) identifier

  • Publication Type: Article / Article
  • Volume: 44
  • Publication Date: 2019
  • Journal Name: CUKUROVA MEDICAL JOURNAL
  • Journal Indexes: Emerging Sources Citation Index (ESCI), TR DİZİN (ULAKBİM)
  • Page Numbers: pp.13-16
  • Çukurova University Affiliated: Yes

Abstract

Neurogenetic diseases are caused by different mechanisms and mutations both at chromosomal and/or molecular levels. Using different methods in the clinical laboratory increases the positively rate of genetic diagnosis due to heterogenous genetic etiology and type of mutations. Thus, the genetic testing methodologies used for clinical labarotory diagnosis are summarized in this review.