Targeted gene panels may be performed on amniocentesis or CVS sample if a specific abnormalities are suspected because of specific fetal abnormalities detected on ultrasound scan (e.g. increased nuchal translucency, heart abnormalities, brain abnormalities).
The main advantages of doing targeted gene panels are that:
1. only specific genes in the panel are tested for, and hence avoids the difficulty sometimes of interpreting variants of unknown significance when using more exploratory tests like whole exome sequencing and whole genome sequencing
2. generally cheaper than whole exome sequencing or whole genome sequencing
The main disadvantage of doing targeted gene panels is that other genetic diseases are not tested by such a panel and hence would not be discovered by such a test. This would nclude other genetic conditions not suspected by the doctor. The panels for similar fetal abnormalities may include different genes in different laboratories.
Comentarios