Naslov
Genetic diagnostics of intellectual disability disorder, autism spectrum disorder and epilepsy

Autori
Borovecki, Fran ; Brecevic, Lukrecija ; Gotovac Jerčić, Kristina ; Rincic, Martina

Sažetak
Abstract: NOVELTY - Gene chip comprises genetic sequences selected from one or more of 179 sequences (SEQ ID NOs: 1-179), given in the specification. Sequences not defined here may be found at ftp://ftp.wipo.int/pub/published_pct_sequences/p ublication. USE - The gene chip is used for diagnostics of intellectual disorder i.e. developmental intellectual disorder or autism spectrum disorder. It is used for identification of the disorder or predisposition for disorder in human patient using aCGH technique, where the disorder is epilepsy. (all claimed) DETAILED DESCRIPTION - INDEPENDENT CLAIMS are included for: (1) identification of the disorder or predisposition for disorder in human patient using array comparative genomic hybridization on chip (aCGH) technique comprising collecting individual blood sample, isolation of DNA from the sample, fluorescent staining of test and referent DNA, hybridization of samples on a gene chip, washing and scanning of the chip, analysis and interpretation of the data, and identification of relevant gene aberration ; (2) gene panel comprising genetic sequences selected from one or more of 137 sequences (SEQ ID NOs: 180-316), given in the specification ; and (3) identification of disorder or predisposition for disorder in human patient using targeted sequencing technique comprising collecting individual blood sample, isolation of DNA from the sample, preparation of libraries for sequencing, library hybridization using gene panel, library sequencing, analysis and interpretation of the data, and identification of relevant gene aberration.

Izvorni jezik
Engleski

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