Genetic testing for diffuse lung diseases in children

© 2023 Wiley Periodicals LLC..

Newly developing genomic technologies are an increasingly important part of clinical care and thus, it is not only important to understand the technologies and their limitations, but to also interpret the findings in an actionable fashion. Clinical geneticists and genetic counselors are now an integral part of the clinical team and are able to bridge the complexities of this rapidly changing science between the bedside clinicians and patients. This manuscript reviews the terminology, the current technology, some of the known genetic disorders that result in lung disease, and indications for genetic testing with associated caveats. Because this field is evolving quickly, we also provide links to websites that provide continuously updated information important for integrating genomic technology results into clinical decision-making.

Medienart:

E-Artikel

Erscheinungsjahr:

2023

Erschienen:

2023

Enthalten in:

Zur Gesamtaufnahme - year:2023

Enthalten in:

Pediatric pulmonology - (2023) vom: 16. Mai

Sprache:

Englisch

Beteiligte Personen:

Hamvas, Aaron [VerfasserIn]
Chaudhari, Bimal P [VerfasserIn]
Nogee, Lawrence M [VerfasserIn]

Links:

Volltext

Themen:

Childhood
Genetic testing
Genetics
Interstitial lung disease
Journal Article
Respiratory distress syndrome

Anmerkungen:

Date Revised 19.05.2023

published: Print-Electronic

Citation Status Publisher

doi:

10.1002/ppul.26447

funding:

Förderinstitution / Projekttitel:

PPN (Katalog-ID):

NLM356940055