Author/Editor		Peterlin, Ana Marija; Peterlin, Borut
Title		Sovremen pristap kon dijagnosticiranje na genetskite pričini za intelektualna poprečenost
Translated title		Contemporary approach to diagnosis of genetic causes of intellectual disability
Type		članek
Vol. and No.		Letnik 17, št. 3/4
Publication year		2016
Volume		str. 62-70
ISSN		1409-6099
Language		mac, eng
Abstract		Intellectual disability is a lifelong debilitating developmental disorder with important genetic contribution, which remains challenging to investigate due to high clinical and genetic variability. Finding the etiologic diagnosis of ID, however comes with great benefits for patients and their families, therefore establishing a genetic diagnostic pathway with right combination and succession of diagnostic tools is crucial for both prevention and appropriate treatment and/or rehabilitation of patients with ID. New diagnostic tools in genetics such as array comparative genomic hybridization (aCGH) and next-generation sequencing (NGS) have much higher detection rate for genetic aberrations responsible for ID and have enormous potential to shorten the path to diagnosis, as early diagnosis is a cornerstone for medical and non-medical management of persons suffering from ID.
Keywords		intelektualna prizadetost genetsko testiranje sodobni pristop intellectual disability genetic testing contemporary approach