Research Topic · Peer-Reviewed

Genetic Diagnosis

Genetic diagnosis is the use of laboratory testing to identify genes, gene mutations, or chromosomal changes that cause or contribute to disease. By analyzing a person's DNA, chromosomes, or gene products, genetic diagnosis can confirm a suspected inherited condition, clarify an uncertain clinical picture, identify …

Curated from this journal's research 📚 7 peer-reviewed articles cited Cited 1× across the literature 🗓 Reviewed July 2026

Overview

Genetic diagnosis is the use of laboratory testing to identify genes, gene mutations, or chromosomal changes that cause or contribute to disease. By analyzing a person's DNA, chromosomes, or gene products, genetic diagnosis can confirm a suspected inherited condition, clarify an uncertain clinical picture, identify carriers, and estimate the risk of disease in an individual or their relatives. It is applied across many settings, including the evaluation of children with suspected genetic syndromes, prenatal and preimplantation testing, and the characterization of tumors and rare disorders. The results inform medical management, reproductive decisions, and preventive strategies, and increasingly guide targeted therapies. Research within Hereditary Diseases relevant to this topic includes a trio study identifying a novel LAMB3 gene mutation causing junctional epidermolysis bullosa, molecular analysis of the 6-pyruvoyltetrahydropterin synthase gene in patients with atypical phenylketonuria, and identification of a new PRKAR1A mutation in a case of Carney complex. These studies illustrate how detecting specific gene mutations enables accurate diagnosis of inherited conditions. This page gathers peer-reviewed, open-access research relevant to genetic diagnosis, the identification of disease-causing mutations, and the molecular characterization of hereditary disorders.

Research published in this journal

7 peer-reviewed articles, ranked by relevance. Each links to its DOI.

2021

A New Gene Mutation of PRKAR1A was found in a Carney Complex Case

Yang LiCorresponding author
Department of Endocrinology, Hunan Provincial People's Hospital (The First Affiliated Hospital of Hunan Normal University), Changsha, Hunan 410000, China.
Clinical Case Reports and Images doi:10.14302/issn.2641-5518.jcci-21-3914

How this research is being cited

The 7 articles above have been cited 1 time in the scholarly literature. Citation data via OpenAlex and Crossref, updated Oct 2025.

A sample of recent works citing this journal's research on Genetic Diagnosis, linking to each citing work.

Editorial oversight

Curated from peer-reviewed research published in Hereditary Diseases.

This page summarises published research for orientation; it is not medical or professional advice.