Mechanisms and diagnostic methods in neurogenetic disease

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

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

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 44
  • Basım Tarihi: 2019
  • Dergi Adı: CUKUROVA MEDICAL JOURNAL
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.13-16
  • Çukurova Üniversitesi Adresli: Evet

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.