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Genetic Diagnostics: Precision Tools for Disease Detection
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Genetic Diagnostics: Precision Tools for Disease Detection

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Genetic Diagnosis".

Deadline for manuscript submissions: closed (30 June 2025) | Viewed by 1054

Special Issue Editor

Dr. Honey Reddi

E-Mail Website
Guest Editor
Department of Pathology and Laboratory Medicine, Medical College of Wisconsin, Milwaukee, WI, USA
Interests: tools for genetic diagnostics, variant interpretation, clinical assay validation precision medicine; genetic association studies; genetic predisposition to disease; genetic testing for somatic cancer
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Genetic diagnostics enables the identification of genetic causation in the case of inherited disorders, the determination of variants in cancer diagnosis and in the treatment of disease, as well as risk assessments for disease, enabling individualized or tailored applications in disease management. Furthermore, advances in precision medicine have expanded the scope of genetic diagnostics, as with, for example, the variability of an individual’s genetic makeup in the context of their lifestyle and environment.

This Special Issue, entitled “Genetic Diagnostics: Precision Tools for Disease Detection”, is intended to provide a platform for a wide range of reviews, research articles and communications related to genetics and genomic studies in clinical diagnostics. We encourage submissions that focus on a strong precision medicine component and are devoted to assay validation, novel variants of disease, functional studies that impact variant evaluation for clinical pathogenicity, and machine learning for genetic markers associated with inherited diseases and cancer.

Please contact the Guest Editor should you have any questions related to the scope of this Special Issue.

Dr. Honey Reddi
Guest Editor

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. Genes is an international peer-reviewed open access monthly 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

  • genetic diagnostics
  • precision medicine
  • disease detection
  • inherited disorders

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Published Papers (2 papers)

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16 pages, 2312 KiB  
Article
A Modified FLT3 PCR Assay Using a TapeStation Readout
by Elizabeth Adele Blake, Madhurya Ramineni and Zoltán N. Oltvai
Genes 2025, 16(6), 684; https://doi.org/10.3390/genes16060684 - 31 May 2025
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Abstract
Background: FLT3 mutation testing is a key ancillary molecular assay for diagnosing and managing patients with acute myeloid leukemia (AML), including assessing the utility of FLT3 inhibitors during induction chemotherapy. FLT3 PCR utilizing fluorescently labeled primers and capillary electrophoresis readout is the most [...] Read more.
Background: FLT3 mutation testing is a key ancillary molecular assay for diagnosing and managing patients with acute myeloid leukemia (AML), including assessing the utility of FLT3 inhibitors during induction chemotherapy. FLT3 PCR utilizing fluorescently labeled primers and capillary electrophoresis readout is the most used technique for the rapid detection of FLT3 internal tandem duplications (ITDs) (including very small ITDs) and tyrosine kinase domain (TKD) mutations. However, capillary electrophoresis (CE) is a relatively lengthy and technically demanding result readout mode that could potentially be replaced by faster alternatives. Methods: Here, we describe the validation of a modified FLT3 PCR assay that uses the Agilent 4200 TapeStation platform for result readouts. This platform generates quantifiable electropherograms and gel images in under two minutes and at a low cost. We validated its ability to detect FLT3-ITD and -TKD mutations using 22 and 18 previously tested patient samples, respectively. Results: The TapeStation 4200 instrument is 100% sensitive, specific, and highly reproducible for post-PCR fragment analysis in detecting FLT3-ITD (greater than 15 bp in size) and TKD mutations in AML patients. Its results are nearly 100% concordant with those obtained from our previously validated NGS and PAGE methods. However, the limitation of this readout mode is its inability to reliably detect FLT3-ITDs smaller than 15 bp in size. Conclusions: Given the widespread use of TapeStation instruments in molecular diagnostics laboratories as part of next-generation sequencing (NGS) workflows, this modified assay is well-suited as a companion test for rapid NGS platforms to detect larger FLT3-ITDs, which are NGS often miscalledor under-called by the NGS bioinformatics algorithms. However, it is not suitable for use as a standalone assay, as it is unable to reliably detect very short FLT3-ITDs. Full article
(This article belongs to the Special Issue Genetic Diagnostics: Precision Tools for Disease Detection)
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9 pages, 666 KiB  
Case Report
Severe Elimination Disorders and Normal Intelligence in a Case of MAP1B Related Syndrome: A Case Report
by Aniel Jessica Leticia Brambila-Tapia, María Teresa Magaña-Torres, Luis E. Figuera, María Guadalupe Domínguez-Quezada, Thania Alejandra Aguayo-Orozco, Jesua Iván Guzmán-González, Hugo Ceja and Ingrid Patricia Dávalos-Rodríguez
Genes 2025, 16(8), 870; https://doi.org/10.3390/genes16080870 - 24 Jul 2025
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Abstract
Pathogenic variants in the MAP1B gene have been associated with neurological impairment, including intellectual disability, attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder, brain malformations, cognitive hearing loss, short stature, and dysmorphic features. However, few cases with detailed clinical characterization have been reported. We describe [...] Read more.
Pathogenic variants in the MAP1B gene have been associated with neurological impairment, including intellectual disability, attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder, brain malformations, cognitive hearing loss, short stature, and dysmorphic features. However, few cases with detailed clinical characterization have been reported. We describe a 12-year-old boy carrying a loss-of-function MAP1B variant, presenting with severe elimination disorders despite normal intelligence. He was referred to the genetics service due to persistent elimination issues, including daytime urinary incontinence, nocturnal enuresis, and fecal incontinence. He had normal motor and cognitive development, with an IQ of 99; however, he also presented with ADHD, short stature, microcephaly, and myopia. Brain MRI revealed bilaterial subependymal periventricular nodular heterotopia (PVNH). Audiometry showed normal bilateral hearing. Testing fragile X syndrome (FXS) and karyotype analyses yielded normal results. Whole exome sequencing (WES) revealed a nonsense pathogenic variant in MAP1B (c.895 C>T; p.Arg299*). No other family members showed a similar phenotype; however, a great-uncle and a great-aunt had a history of nocturnal enuresis until age 10. The patient’s deceased mother had short stature and psychiatric disorders, and a history of consanguinity was reported on the maternal side. This case broadens the phenotypic spectrum associated with MAP1B syndrome, suggesting that elimination disorder, frequently reported in FXS, should also be evaluated in MAP1B pathogenic variant carriers. In addition, the presence of short stature also appears to be part of the syndrome. Full article
(This article belongs to the Special Issue Genetic Diagnostics: Precision Tools for Disease Detection)
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