Position Statement of the Indian Academy of Medical Genetics on Next Generation Sequencing-Based Testing for Rare Genetic Disorders
PediatriaResumo original em inglês
O que aconteceu
Next-generation sequencing (NGS)-based tests are being increasingly employed by clinicians for obtaining a genetic diagnosis in individuals and families with possible genetic disorders. However, there is a significant disparity in the genomic knowledge and skills of the clinicians employing these tests for care and management of families with rare genetic disorders. Through the current document, the Society for Indian Academy of Medical Genetics (SIAMG) aims to provide guidance and consideration in terms of the type of tests available, their appropriate applications, and result interpretation in order to make judicious use of these tests for rare disease diagnosis.
Resumo publicado sob licença CC BY. A tradução para o português ainda não chegou a este estudo.
O estudo original
Position Statement of the Indian Academy of Medical Genetics on Next Generation Sequencing-Based Testing for Rare Genetic Disorders
Anju Shukla, Sameer Bhatia, Mounika Endrakanti, Deepti Gupta, Amita Moirangthem, Prajnya Ranganath, Executive Committee of the Society for Indian Academy of Medical Genetics (SIAMG)
Descritores MeSH
- Genetic Diseases, Inborn
- Rare Diseases
- High-Throughput Nucleotide Sequencing
- Genetic Testing
- Genetics, Medical
- India
- Humans
- Genetic Counseling