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Diagnostics
Special Issues
Microarray Technology in Diagnostics
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Microarray Technology in Diagnostics

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Point-of-Care Diagnostics and Devices".

Deadline for manuscript submissions: closed (31 July 2023) | Viewed by 1996

Special Issue Editors

Dr. Chen-Han Huang

E-Mail Website
Guest Editor
Department of Biomedical Sciences and Engineering, National Central University, Taoyuan, Taiwan
Interests: rapid on-site diagnosis platform and point-of-care devices for healthcare solutions; computational imaging methods and applications in microscopy and bioimaging systems; machine learning applications in biomedical imaging and analysis
Dr. Hsing-Ying Lin

E-Mail Website
Guest Editor
Institute of Biomedical Engineering, National Tsing Hua university, Hsinchu, Taiwan
Interests: point-of-care devices and analytical methods in healthcare; translational medicine applications; nanophotonics and plasmonics
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

As a multiplex lab on a chip, microarray technology has developed rapidly in the field of medical diagnosis in recent years. It analyses a large number of biological materials by using high-throughput screening miniaturization, multiplexing, and parallel processing and detection methods. The samples generally include DNA, proteins, cells, tissues, etc. It has the characteristics of fast response, high specificity, and low cost as a diagnostics tool. Our Special Issue will focus on the latest advances in microarray technology in clinical/laboratory disease screening, diagnosis, treatment, and prognosis. We welcome submissions of original research, brief communications, and review articles from researchers.

Research areas may include, but are not limited to, the following:

  • Identification of gene mutations;
  • Tumor classification;
  • Identification of cancer biomarkers;
  • Early clinical trials;
  • Personalized medicine;
  • Analysis of bacterial infections;
  • Analysis of oral diseases.

Dr. Chen-Han Huang
Dr. Hsing-Ying Lin
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Diagnostics is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • microarray
  • protein microarrays
  • tissue microarray
  • DNA microarray
  • human genome
  • disease diagnosis
  • biomarker detection
  • cancer
  • microbial identification

Published Papers (1 paper)

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Research

16 pages, 461 KiB  
Article
Pathogenic Copy Number Variations Involved in the Genetic Etiology of Syndromic and Non-Syndromic Intellectual Disability—Data from a Romanian Cohort
by Ioana Streață, Alexandru Caramizaru, Anca-Lelia Riza, Simona Șerban-Sosoi, Andrei Pîrvu, Monica-Laura Cara, Mihai-Gabriel Cucu, Amelia Mihaela Dobrescu, Ro-NMCA-ID Group, CExBR Pediatric Neurology Obregia Group, CExBR Pediatric Neurology “V. Gomoiu” Hospital Group, Elena-Silvia Shelby, Adriana Albeanu, Florin Burada and Mihai Ioana
Diagnostics 2022, 12(12), 3137; https://doi.org/10.3390/diagnostics12123137 - 12 Dec 2022
Viewed by 1617
Abstract
The investigation of unexplained global developmental delay (GDD)/intellectual disability (ID) is challenging. In low resource settings, patients may not follow a standardized diagnostic process that makes use of the benefits of advanced technologies. Our study aims to explore the contribution of chromosome microarray [...] Read more.
The investigation of unexplained global developmental delay (GDD)/intellectual disability (ID) is challenging. In low resource settings, patients may not follow a standardized diagnostic process that makes use of the benefits of advanced technologies. Our study aims to explore the contribution of chromosome microarray analysis (CMA) in identifying the genetic etiology of GDD/ID. A total of 371 Romanian patients with syndromic or non-syndromic GDD/ID, without epilepsy, were routinely evaluated in tertiary clinics. A total of 234 males (63.07%) and 137 (36.93%) females, with ages ranging from 6 months to 40 years (median age of 5.5 years), were referred for genetic diagnosis between 2015 and 2022; testing options included CMA and/or karyotyping. Agilent Technologies and Oxford Gene Technology CMA workflows were used. Pathogenic/likely pathogenic copy number variations (pCNVs) were identified in 79 patients (21.29%). Diagnosis yield was comparable between mild ID (17.05%, 22/129) and moderate/severe ID 23.55% (57/242). Higher rates were found in cases where facial dysmorphism (22.97%, 71/309), autism spectrum disorder (ASD) (19.11%, 26/136) and finger anomalies (20%, 27/96) were associated with GDD/ID. GDD/ID plus multiple congenital anomalies (MCA) account for the highest detection rates at 27.42% (17/62). pCNVs represent a significant proportion of the genetic causes of GDD/ID. Our study confirms the utility of CMA in assessing GDD/ID with an uncertain etiology, especially in patients with associated comorbidities. Full article
(This article belongs to the Special Issue Microarray Technology in Diagnostics)
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