Mechanisms and diagnostic methods in neurogenetic disease


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

CUKUROVA MEDICAL JOURNAL, cilt.44, ss.13-16, 2019 (ESCI İndekslerine Giren Dergi) identifier

  • Cilt numarası: 44
  • Basım Tarihi: 2019
  • Dergi Adı: CUKUROVA MEDICAL JOURNAL
  • Sayfa Sayıları: ss.13-16

Özet

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.